psui3905/ncbi_genes_summary huggingface dataset:
NEK4, Official Symbol NEK4provided by HGNC Official Full Name NIMA related kinase 4provided by HGNC Primary source HGNC:HGNC:11399 See related Ensembl:ENSG00000114904 MIM:601959; AllianceGenome:HGNC:11399 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NRK2; STK2; pp12301 Summary The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017] Expression Broad expression in testis (RPKM 13.9), thyroid (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
NEK4P1, Official Symbol NEK4P1provided by HGNC Official Full Name NIMA-related kinase 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39649 See related Ensembl:ENSG00000225735 AllianceGenome:HGNC:39649 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NEK4P2, Official Symbol NEK4P2provided by HGNC Official Full Name NIMA-related kinase 4 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39650 See related Ensembl:ENSG00000264359 AllianceGenome:HGNC:39650 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NEK5, Official Symbol NEK5provided by HGNC Official Full Name NIMA related kinase 5provided by HGNC Primary source HGNC:HGNC:7748 See related Ensembl:ENSG00000197168 MIM:616731; AllianceGenome:HGNC:7748 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable ATP binding activity; metal ion binding activity; and protein kinase activity. Predicted to be involved in protein phosphorylation. Predicted to act upstream of or within positive regulation of cysteine-type endopeptidase activity and positive regulation of striated muscle cell differentiation. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.0), lung (RPKM 0.4) and 1 other tissue See more Orthologs mouse all
NEK6, Official Symbol NEK6provided by HGNC Official Full Name NIMA related kinase 6provided by HGNC Primary source HGNC:HGNC:7749 See related Ensembl:ENSG00000119408 MIM:604884; AllianceGenome:HGNC:7749 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SID6-1512 Summary The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in placenta (RPKM 13.1), appendix (RPKM 13.0) and 25 other tissues See more Orthologs mouse all
NEK7, Official Symbol NEK7provided by HGNC Official Full Name NIMA related kinase 7provided by HGNC Primary source HGNC:HGNC:13386 See related Ensembl:ENSG00000151414 MIM:606848; AllianceGenome:HGNC:13386 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002] Expression Ubiquitous expression in heart (RPKM 38.5), fat (RPKM 31.8) and 24 other tissues See more Orthologs mouse all
NEK8, Official Symbol NEK8provided by HGNC Official Full Name NIMA related kinase 8provided by HGNC Primary source HGNC:HGNC:13387 See related Ensembl:ENSG00000160602 MIM:609799; AllianceGenome:HGNC:13387 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JCK; NPHP9; RHPD2; NEK12A Summary This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 2.8), lymph node (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
NEK9, Official Symbol NEK9provided by HGNC Official Full Name NIMA related kinase 9provided by HGNC Primary source HGNC:HGNC:18591 See related Ensembl:ENSG00000119638 MIM:609798; AllianceGenome:HGNC:18591 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NC; APUG; NERCC; LCCS10; NERCC1 Summary This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in ovary (RPKM 24.4), testis (RPKM 21.8) and 25 other tissues See more Orthologs mouse all
NELFA, Official Symbol NELFAprovided by HGNC Official Full Name negative elongation factor complex member Aprovided by HGNC Primary source HGNC:HGNC:12768 See related Ensembl:ENSG00000185049 MIM:606026; AllianceGenome:HGNC:12768 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WHSC2; NELF-A; P/OKcl.15 Summary This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 9.8), ovary (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
NELFB, Official Symbol NELFBprovided by HGNC Official Full Name negative elongation factor complex member Bprovided by HGNC Primary source HGNC:HGNC:24324 See related Ensembl:ENSG00000188986 MIM:611180; AllianceGenome:HGNC:24324 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as COBRA1; NELF-B Summary NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 16.5), fat (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
NELFCD, Official Symbol NELFCDprovided by HGNC Official Full Name negative elongation factor complex member C/Dprovided by HGNC Primary source HGNC:HGNC:15934 See related Ensembl:ENSG00000101158 MIM:605297; AllianceGenome:HGNC:15934 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TH1; TH1L; NELF-C; NELF-D; HSPC130 Summary The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 29.3), thyroid (RPKM 23.1) and 25 other tissues See more Orthologs mouse all
NELFE, Official Symbol NELFEprovided by HGNC Official Full Name negative elongation factor complex member Eprovided by HGNC Primary source HGNC:HGNC:13974 See related Ensembl:ENSG00000204356 MIM:154040; AllianceGenome:HGNC:13974 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RD; RDP; RDBP; D6S45; NELF-E Summary The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 52.1), ovary (RPKM 20.1) and 25 other tissues See more Orthologs mouse all
NELL1, Official Symbol NELL1provided by HGNC Official Full Name neural EGFL like 1provided by HGNC Primary source HGNC:HGNC:7750 See related Ensembl:ENSG00000165973 MIM:602319; AllianceGenome:HGNC:7750 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NRP1; IDH3GL Summary This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Biased expression in brain (RPKM 7.1), kidney (RPKM 6.6) and 2 other tissues See more Orthologs mouse all
NELL2, Official Symbol NELL2provided by HGNC Official Full Name neural EGFL like 2provided by HGNC Primary source HGNC:HGNC:7751 See related Ensembl:ENSG00000184613 MIM:602320; AllianceGenome:HGNC:7751 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NRP2 Summary The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009] Expression Biased expression in brain (RPKM 55.4), duodenum (RPKM 9.0) and 5 other tissues See more Orthologs mouse all
NEMF, Official Symbol NEMFprovided by HGNC Official Full Name nuclear export mediator factorprovided by HGNC Primary source HGNC:HGNC:10663 See related Ensembl:ENSG00000165525 MIM:608378; AllianceGenome:HGNC:10663 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RQC2; IDDSAPN; NY-CO-1; SDCCAG1 Summary This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in brain (RPKM 12.2), thyroid (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
NEMP1, Official Symbol NEMP1provided by HGNC Official Full Name nuclear envelope integral membrane protein 1provided by HGNC Primary source HGNC:HGNC:29001 See related Ensembl:ENSG00000166881 MIM:616496; AllianceGenome:HGNC:29001 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TMEM194; TMEM194A Summary Involved in nuclear membrane organization. Predicted to be located in nuclear inner membrane. Predicted to be integral component of membrane. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 5.8), testis (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
NEMP2, Official Symbol NEMP2provided by HGNC Official Full Name nuclear envelope integral membrane protein 2provided by HGNC Primary source HGNC:HGNC:33700 See related Ensembl:ENSG00000189362 MIM:616497; AllianceGenome:HGNC:33700 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TMEM194B Summary Predicted to be located in nuclear inner membrane. Predicted to be integral component of membrane. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 2.0), lymph node (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
NENF, Official Symbol NENFprovided by HGNC Official Full Name neudesin neurotrophic factorprovided by HGNC Primary source HGNC:HGNC:30384 See related Ensembl:ENSG00000117691 MIM:611874; AllianceGenome:HGNC:30384 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CIR2; SPUF; SCIRP10 Summary This gene encodes a neurotrophic factor that may play a role in neuron differentiation and development. A pseudogene of this gene is found on chromosome 12. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2009] Expression Ubiquitous expression in ovary (RPKM 25.5), prostate (RPKM 23.2) and 25 other tissues See more Orthologs mouse all
NENFP1, Official Symbol NENFP1provided by HGNC Official Full Name neudesin neurotrophic factor pseudogene 1provided by HGNC Primary source HGNC:HGNC:50298 See related Ensembl:ENSG00000233647 AllianceGenome:HGNC:50298 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NENFP3, Official Symbol NENFP3provided by HGNC Official Full Name neudesin neurotrophic factor pseudogene 3provided by HGNC Primary source HGNC:HGNC:50300 See related Ensembl:ENSG00000248462 AllianceGenome:HGNC:50300 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NEO1, Official Symbol NEO1provided by HGNC Official Full Name neogenin 1provided by HGNC Primary source HGNC:HGNC:7754 See related Ensembl:ENSG00000067141 MIM:601907; AllianceGenome:HGNC:7754 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NGN; IGDCC2; NTN1R2 Summary This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] Expression Broad expression in colon (RPKM 23.2), skin (RPKM 16.0) and 23 other tissues See more Orthologs mouse all
NEPRO, Official Symbol NEPROprovided by HGNC Official Full Name nucleolus and neural progenitor proteinprovided by HGNC Primary source HGNC:HGNC:24496 See related Ensembl:ENSG00000163608 MIM:617089; AllianceGenome:HGNC:24496 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ANXD3; NET17; C3orf17 Summary Predicted to be involved in negative regulation of neuron differentiation and positive regulation of Notch signaling pathway. Predicted to be located in nucleolus. Predicted to be active in nucleus. Implicated in anauxetic dysplasia 3. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 9.6), lymph node (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
NES, Official Symbol NESprovided by HGNC Official Full Name nestinprovided by HGNC Primary source HGNC:HGNC:7756 See related Ensembl:ENSG00000132688 MIM:600915; AllianceGenome:HGNC:7756 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Nbla00170 Summary This gene encodes a member of the intermediate filament protein family and is expressed primarily in nerve cells. [provided by RefSeq, Sep 2011] Expression Broad expression in heart (RPKM 67.0), fat (RPKM 29.0) and 17 other tissues See more Orthologs mouse all
NET1, Official Symbol NET1provided by HGNC Official Full Name neuroepithelial cell transforming 1provided by HGNC Primary source HGNC:HGNC:14592 See related Ensembl:ENSG00000173848 MIM:606450; AllianceGenome:HGNC:14592 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NET1A; ARHGEF8 Summary This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in colon (RPKM 43.6), small intestine (RPKM 31.5) and 25 other tissues See more Orthologs mouse all
NETO1, Official Symbol NETO1provided by HGNC Official Full Name neuropilin and tolloid like 1provided by HGNC Primary source HGNC:HGNC:13823 See related Ensembl:ENSG00000166342 MIM:607973; AllianceGenome:HGNC:13823 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BCTL1; BTCL1 Summary This gene encodes a transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. This protein is thought to play a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2017] Expression Biased expression in brain (RPKM 5.4) and spleen (RPKM 0.5) See more Orthologs mouse all
NETO1-DT, Official Symbol NETO1-DTprovided by HGNC Official Full Name NETO1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55333 See related Ensembl:ENSG00000263958 AllianceGenome:HGNC:55333 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
NETO2, Official Symbol NETO2provided by HGNC Official Full Name neuropilin and tolloid like 2provided by HGNC Primary source HGNC:HGNC:14644 See related Ensembl:ENSG00000171208 MIM:607974; AllianceGenome:HGNC:14644 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BTCL2; NEOT2 Summary This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Broad expression in spleen (RPKM 8.8), brain (RPKM 6.7) and 17 other tissues See more Orthologs mouse all
NEU1, Official Symbol NEU1provided by HGNC Official Full Name neuraminidase 1provided by HGNC Primary source HGNC:HGNC:7758 See related Ensembl:ENSG00000204386 MIM:608272; AllianceGenome:HGNC:7758 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NEU; NANH; SIAL1 Summary The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 39.2), placenta (RPKM 29.4) and 25 other tissues See more Orthologs mouse all
NEU2, Official Symbol NEU2provided by HGNC Official Full Name neuraminidase 2provided by HGNC Primary source HGNC:HGNC:7759 See related Ensembl:ENSG00000115488 MIM:605528; AllianceGenome:HGNC:7759 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SIAL2 Summary This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
NEU3, Official Symbol NEU3provided by HGNC Official Full Name neuraminidase 3provided by HGNC Primary source HGNC:HGNC:7760 See related Ensembl:ENSG00000162139 MIM:604617; AllianceGenome:HGNC:7760 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SIAL3 Summary This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 5.8), prostate (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
NEU4, Official Symbol NEU4provided by HGNC Official Full Name neuraminidase 4provided by HGNC Primary source HGNC:HGNC:21328 See related Ensembl:ENSG00000204099 MIM:608527; AllianceGenome:HGNC:21328 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009] Expression Biased expression in colon (RPKM 9.5), liver (RPKM 4.5) and 5 other tissues See more Orthologs mouse all
NEURL1, Official Symbol NEURL1provided by HGNC Official Full Name neuralized E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:7761 See related Ensembl:ENSG00000107954 MIM:603804; AllianceGenome:HGNC:7761 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as neu; NEUR1; NEURL; RNF67; neu-1; bA416N2.1 Summary Predicted to enable translation factor activity, non-nucleic acid binding and ubiquitin protein ligase activity. Involved in negative regulation of Notch signaling pathway; negative regulation of cell population proliferation; and positive regulation of apoptotic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 4.6), colon (RPKM 2.4) and 15 other tissues See more Orthologs mouse all
NEURL1-AS1, Official Symbol NEURL1-AS1provided by HGNC Official Full Name NEURL1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51220 See related Ensembl:ENSG00000235470 AllianceGenome:HGNC:51220 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
NEURL1B, Official Symbol NEURL1Bprovided by HGNC Official Full Name neuralized E3 ubiquitin protein ligase 1Bprovided by HGNC Primary source HGNC:HGNC:35422 See related Ensembl:ENSG00000214357 MIM:615893; AllianceGenome:HGNC:35422 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as neur2; NEURL3; RNF67B; hNeur2 Summary Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in ubiquitin-dependent endocytosis. Located in actin cytoskeleton and cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 15.4), colon (RPKM 11.9) and 23 other tissues See more Orthologs mouse all
NEURL2, Official Symbol NEURL2provided by HGNC Official Full Name neuralized E3 ubiquitin protein ligase 2provided by HGNC Primary source HGNC:HGNC:16156 See related Ensembl:ENSG00000124257 MIM:608597; AllianceGenome:HGNC:16156 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OZZ; OZZ-E3; C20orf163 Summary This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in kidney (RPKM 2.2), ovary (RPKM 2.0) and 25 other tissues See more Orthologs mouse all
NEURL3, Official Symbol NEURL3provided by HGNC Official Full Name neuralized E3 ubiquitin protein ligase 3provided by HGNC Primary source HGNC:HGNC:25162 See related Ensembl:ENSG00000163121 MIM:617206; AllianceGenome:HGNC:25162 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LINCR; RNF132 Summary Predicted to enable ubiquitin protein ligase activity. Predicted to act upstream of or within protein ubiquitination. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in salivary gland (RPKM 4.9), kidney (RPKM 1.8) and 5 other tissues See more Orthologs mouse all
NEURL4, Official Symbol NEURL4provided by HGNC Official Full Name neuralized E3 ubiquitin protein ligase 4provided by HGNC Primary source HGNC:HGNC:34410 See related Ensembl:ENSG00000215041 MIM:615865; AllianceGenome:HGNC:34410 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 8.3), testis (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
NEUROD1, Official Symbol NEUROD1provided by HGNC Official Full Name neuronal differentiation 1provided by HGNC Primary source HGNC:HGNC:7762 See related Ensembl:ENSG00000162992 MIM:601724; AllianceGenome:HGNC:7762 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as T2D; BETA2; BHF-1; MODY6; NEUROD; bHLHa3 Summary This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 3.1), duodenum (RPKM 3.0) and 4 other tissues See more Orthologs mouse all
NEUROD2, Official Symbol NEUROD2provided by HGNC Official Full Name neuronal differentiation 2provided by HGNC Primary source HGNC:HGNC:7763 See related Ensembl:ENSG00000171532 MIM:601725; AllianceGenome:HGNC:7763 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NDRF; DEE72; EIEE72; bHLHa1 Summary This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 7.8) See more Orthologs mouse all
NEUROD4, Official Symbol NEUROD4provided by HGNC Official Full Name neuronal differentiation 4provided by HGNC Primary source HGNC:HGNC:13802 See related Ensembl:ENSG00000123307 MIM:611635; AllianceGenome:HGNC:13802 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATH3; ATH-3; Atoh3; MATH3; MATH-3; bHLHa4 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in amacrine cell differentiation; positive regulation of cell differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including Notch signaling pathway; camera-type eye development; and neurogenesis. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 1.3), brain (RPKM 0.2) and 1 other tissue See more Orthologs mouse all
NEUROD6, Official Symbol NEUROD6provided by HGNC Official Full Name neuronal differentiation 6provided by HGNC Primary source HGNC:HGNC:13804 See related Ensembl:ENSG00000164600 MIM:611513; AllianceGenome:HGNC:13804 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Nex1; Atoh2; MATH2; NEX1M; Math-2; bHLHa2 Summary This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012] Expression Restricted expression toward brain (RPKM 7.3) See more Orthologs mouse all
NEUROG1, Official Symbol NEUROG1provided by HGNC Official Full Name neurogenin 1provided by HGNC Primary source HGNC:HGNC:7764 See related Ensembl:ENSG00000181965 MIM:601726; AllianceGenome:HGNC:7764 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AKA; ngn1; CCDDRD; Math4C; bHLHa6; NEUROD3 Summary Enables E-box binding activity and protein homodimerization activity. Involved in several processes, including animal organ morphogenesis; cranial nerve development; and hard palate morphogenesis. Predicted to be located in neuronal cell body. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
NEUROG2, Official Symbol NEUROG2provided by HGNC Official Full Name neurogenin 2provided by HGNC Primary source HGNC:HGNC:13805 See related Ensembl:ENSG00000178403 MIM:606624; AllianceGenome:HGNC:13805 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NGN2; Atoh4; ngn-2; Math4A; bHLHa8 Summary This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012] Expression Restricted expression toward testis (RPKM 1.1) See more Orthologs mouse all
NEUROG3, Official Symbol NEUROG3provided by HGNC Official Full Name neurogenin 3provided by HGNC Primary source HGNC:HGNC:13806 See related Ensembl:ENSG00000122859 MIM:604882; AllianceGenome:HGNC:13806 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ngn3; Atoh5; NGN-3; Math4B; bHLHa7 Summary The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010] Expression Biased expression in duodenum (RPKM 1.5), small intestine (RPKM 0.6) and 2 other tissues See more Orthologs mouse all
NEXMIF, Official Symbol NEXMIFprovided by HGNC Official Full Name neurite extension and migration factorprovided by HGNC Primary source HGNC:HGNC:29433 See related Ensembl:ENSG00000050030 MIM:300524; AllianceGenome:HGNC:29433 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as XPN; MRX98; KIDLIA; XLID98; KIAA2022 Summary An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009] Expression Biased expression in brain (RPKM 2.3), adrenal (RPKM 0.6) and 12 other tissues See more Orthologs mouse all
NEXN, Official Symbol NEXNprovided by HGNC Official Full Name nexilin F-actin binding proteinprovided by HGNC Primary source HGNC:HGNC:29557 See related Ensembl:ENSG00000162614 MIM:613121; AllianceGenome:HGNC:29557 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMH20; NELIN Summary This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] Expression Broad expression in heart (RPKM 72.6), prostate (RPKM 22.2) and 20 other tissues See more Orthologs mouse all
NEXN-AS1, Official Symbol NEXN-AS1provided by HGNC Official Full Name NEXN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:31983 See related Ensembl:ENSG00000235927 MIM:618370; AllianceGenome:HGNC:31983 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C1orf118 Expression Biased expression in heart (RPKM 3.8), prostate (RPKM 1.2) and 12 other tissues See more
NF1, Official Symbol NF1provided by HGNC Official Full Name neurofibromin 1provided by HGNC Primary source HGNC:HGNC:7765 See related Ensembl:ENSG00000196712 MIM:613113; AllianceGenome:HGNC:7765 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WSS; NFNS; VRNF Summary This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 9.3), brain (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
NF1P1, Official Symbol NF1P1provided by HGNC Official Full Name neurofibromin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:7772 See related Ensembl:ENSG00000270831 AllianceGenome:HGNC:7772 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NF1HHS Annotation information Note: The name of this locus was changed from NF1P2 to NF1P1 in collaboration with HGNC. [13 Sep 2011]
NF1P11, Official Symbol NF1P11provided by HGNC Official Full Name neurofibromin 1 pseudogene 11provided by HGNC Primary source HGNC:HGNC:51738 See related AllianceGenome:HGNC:51738 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NF1P12, Official Symbol NF1P12provided by HGNC Official Full Name neurofibromin 1 pseudogene 12provided by HGNC Primary source HGNC:HGNC:51739 See related Ensembl:ENSG00000258360 AllianceGenome:HGNC:51739 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NF1P4, Official Symbol NF1P4provided by HGNC Official Full Name neurofibromin 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:7769 See related AllianceGenome:HGNC:7769 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NF1L4; NF1L6
NF1P7, Official Symbol NF1P7provided by HGNC Official Full Name neurofibromin 1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:34230 See related AllianceGenome:HGNC:34230 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NF1L7
NF1P8, Official Symbol NF1P8provided by HGNC Official Full Name neurofibromin 1 pseudogene 8provided by HGNC Primary source HGNC:HGNC:7767 See related Ensembl:ENSG00000236956 AllianceGenome:HGNC:7767 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NF1L2
NF1P9, Official Symbol NF1P9provided by HGNC Official Full Name neurofibromin 1 pseudogene 9provided by HGNC Primary source HGNC:HGNC:51736 See related AllianceGenome:HGNC:51736 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NF2, Official Symbol NF2provided by HGNC Official Full Name NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressorprovided by HGNC Primary source HGNC:HGNC:7773 See related Ensembl:ENSG00000186575 MIM:607379; AllianceGenome:HGNC:7773 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACN; SCH; BANF; SWNV; merlin-1 Summary This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded protein is involved in regulation of contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling. The encoded protein has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics, and proteins involved in regulating ion transport. Disruption of this protein's function has been implicated in tumorigenesis and metastasis. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. [provided by RefSeq, May 2022] Expression Ubiquitous expression in testis (RPKM 5.3), brain (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
NFAM1, Official Symbol NFAM1provided by HGNC Official Full Name NFAT activating protein with ITAM motif 1provided by HGNC Primary source HGNC:HGNC:29872 See related Ensembl:ENSG00000235568 MIM:608740; AllianceGenome:HGNC:29872 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CNAIP Summary The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regulate the signaling and development of B-cells. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 10.9), appendix (RPKM 7.1) and 16 other tissues See more Orthologs mouse all