psui3905/ncbi_genes_summary huggingface dataset:
NDUFS5, Official Symbol NDUFS5provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit S5provided by HGNC Primary source HGNC:HGNC:7712 See related Ensembl:ENSG00000168653 MIM:603847; AllianceGenome:HGNC:7712 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 CI15K; CI-15k Summary This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010] Expression Ubiquitous expression in heart (RPKM 174.0), fat (RPKM 138.7) and 25 other tissues See more Orthologs mouse all
NDUFS5P1, Official Symbol NDUFS5P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit S5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44039 See related Ensembl:ENSG00000218424 AllianceGenome:HGNC:44039 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFS5P2, Official Symbol NDUFS5P2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit S5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44040 See related Ensembl:ENSG00000234226 AllianceGenome:HGNC:44040 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFS5P3, Official Symbol NDUFS5P3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit S5 pseudogene 3provided by HGNC Primary source HGNC:HGNC:44041 See related AllianceGenome:HGNC:44041 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFS5P4, Official Symbol NDUFS5P4provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit S5 pseudogene 4provided by HGNC Primary source HGNC:HGNC:44042 See related AllianceGenome:HGNC:44042 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFS5P6, Official Symbol NDUFS5P6provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit S5 pseudogene 6provided by HGNC Primary source HGNC:HGNC:44044 See related Ensembl:ENSG00000255531 AllianceGenome:HGNC:44044 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFS6, Official Symbol NDUFS6provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit S6provided by HGNC Primary source HGNC:HGNC:7713 See related Ensembl:ENSG00000145494 MIM:603848; AllianceGenome:HGNC:7713 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 MC1DN9; CI-13kA; CI13KDA; CI-13kD-A Summary This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in colon (RPKM 56.7), kidney (RPKM 56.2) and 25 other tissues See more Orthologs mouse all
NDUFS6P1, Official Symbol NDUFS6P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit S6 pseudogene 1provided by HGNC Primary source HGNC:HGNC:52274 See related Ensembl:ENSG00000241905 AllianceGenome:HGNC:52274 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFS7, Official Symbol NDUFS7provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase core subunit S7provided by HGNC Primary source HGNC:HGNC:7714 See related Ensembl:ENSG00000115286 MIM:601825; AllianceGenome:HGNC:7714 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 PSST; CI-20; MY017; MC1DN3; CI-20KD Summary This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 13.3), duodenum (RPKM 11.5) and 25 other tissues See more Orthologs mouse all
NDUFS8, Official Symbol NDUFS8provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase core subunit S8provided by HGNC Primary source HGNC:HGNC:7715 See related Ensembl:ENSG00000110717 MIM:602141; AllianceGenome:HGNC:7715 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 TYKY; CI-23k; CI23KD; MC1DN2 Summary This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in heart (RPKM 31.6), adrenal (RPKM 30.6) and 25 other tissues See more Orthologs mouse all
NDUFV1, Official Symbol NDUFV1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase core subunit V1provided by HGNC Primary source HGNC:HGNC:7716 See related Ensembl:ENSG00000167792 MIM:161015; AllianceGenome:HGNC:7716 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 UQOR1; CI-51K; CI51KD; MC1DN4 Summary The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in heart (RPKM 100.7), kidney (RPKM 86.9) and 25 other tissues See more Orthologs mouse all
NDUFV2, Official Symbol NDUFV2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase core subunit V2provided by HGNC Primary source HGNC:HGNC:7717 See related Ensembl:ENSG00000178127 MIM:600532; AllianceGenome:HGNC:7717 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 CI-24k; MC1DN7 Summary The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in heart (RPKM 60.6), liver (RPKM 55.1) and 25 other tissues See more Orthologs mouse all
NDUFV2-AS1, Official Symbol NDUFV2-AS1provided by HGNC Official Full Name NDUFV2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50826 See related Ensembl:ENSG00000266053 AllianceGenome:HGNC:50826 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 Biased expression in testis (RPKM 7.6), bone marrow (RPKM 1.4) and 12 other tissues See more
NDUFV2P1, Official Symbol NDUFV2P1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase core subunit V2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:7718 See related AllianceGenome:HGNC:7718 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NDUFV3, Official Symbol NDUFV3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit V3provided by HGNC Primary source HGNC:HGNC:7719 See related Ensembl:ENSG00000160194 MIM:602184; AllianceGenome:HGNC:7719 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 CI-10k; CI-9KD Summary The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 8.3), heart (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
NEAT1, Official Symbol NEAT1provided by HGNC Official Full Name nuclear paraspeckle assembly transcript 1provided by HGNC Primary source HGNC:HGNC:30815 See related Ensembl:ENSG00000245532 MIM:612769; AllianceGenome:HGNC:30815 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VINC; TncRNA; TP53LC15; LINC00084; NCRNA00084 Summary This gene produces a long non-coding RNA (lncRNA) transcribed from the multiple endocrine neoplasia locus. This lncRNA is retained in the nucleus where it forms the core structural component of the paraspeckle sub-organelles. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer progression. [provided by RefSeq, Mar 2015] Orthologs mouse all
NEB, Official Symbol NEBprovided by HGNC Official Full Name nebulinprovided by HGNC Primary source HGNC:HGNC:7720 See related Ensembl:ENSG00000183091 MIM:161650; AllianceGenome:HGNC:7720 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 AMC6; NEM2; NEB177D Summary This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] Expression Biased expression in prostate (RPKM 10.5), esophagus (RPKM 3.3) and 4 other tissues See more Orthologs mouse all
NEBL, Official Symbol NEBLprovided by HGNC Official Full Name nebuletteprovided by HGNC Primary source HGNC:HGNC:16932 See related Ensembl:ENSG00000078114 MIM:605491; AllianceGenome:HGNC:16932 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 LASP2; LNEBL; C10orf113; bA165O3.1 Summary This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Expression Biased expression in heart (RPKM 103.7), thyroid (RPKM 26.9) and 7 other tissues See more Orthologs mouse all
NEBL-AS1, Official Symbol NEBL-AS1provided by HGNC Official Full Name NEBL antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44899 See related Ensembl:ENSG00000231920 AllianceGenome:HGNC:44899 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 Biased expression in kidney (RPKM 4.2), brain (RPKM 3.2) and 6 other tissues See more
NECAB1, Official Symbol NECAB1provided by HGNC Official Full Name N-terminal EF-hand calcium binding protein 1provided by HGNC Primary source HGNC:HGNC:20983 See related Ensembl:ENSG00000123119 AllianceGenome:HGNC:20983 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 EFCBP1; STIP-1 Summary Enables identical protein binding activity. Predicted to be involved in regulation of amyloid precursor protein biosynthetic process. Predicted to act upstream of or within blastocyst hatching. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 31.1), testis (RPKM 8.9) and 12 other tissues See more Orthologs mouse all
NECAB2, Official Symbol NECAB2provided by HGNC Official Full Name N-terminal EF-hand calcium binding protein 2provided by HGNC Primary source HGNC:HGNC:23746 See related Ensembl:ENSG00000103154 MIM:618130; AllianceGenome:HGNC:23746 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 EFCBP2; stip-2 Summary The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016] Expression Biased expression in brain (RPKM 9.4), kidney (RPKM 3.0) and 3 other tissues See more Orthologs mouse all
NECAB3, Official Symbol NECAB3provided by HGNC Official Full Name N-terminal EF-hand calcium binding protein 3provided by HGNC Primary source HGNC:HGNC:15851 See related Ensembl:ENSG00000125967 MIM:612478; AllianceGenome:HGNC:15851 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 NIP1; XB51; STIP3; EFCBP3; SYTIP2; APBA2BP; dJ63M2.4; dJ63M2.5 Summary The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in prostate (RPKM 16.7), adrenal (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
NECAP1, Official Symbol NECAP1provided by HGNC Official Full Name NECAP endocytosis associated 1provided by HGNC Primary source HGNC:HGNC:24539 See related Ensembl:ENSG00000089818 MIM:611623; AllianceGenome:HGNC:24539 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 DEE21; EIEE21 Summary This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in brain (RPKM 49.7), bone marrow (RPKM 34.9) and 25 other tissues See more Orthologs mouse all
NECAP1P2, Official Symbol NECAP1P2provided by HGNC Official Full Name NECAP endocytosis associated 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:43913 See related Ensembl:ENSG00000234632 AllianceGenome:HGNC:43913 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NECAP2, Official Symbol NECAP2provided by HGNC Official Full Name NECAP endocytosis associated 2provided by HGNC Primary source HGNC:HGNC:25528 See related Ensembl:ENSG00000157191 MIM:611624; AllianceGenome:HGNC:25528 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 This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in lymph node (RPKM 34.8), spleen (RPKM 33.6) and 25 other tissues See more Orthologs mouse all
NECTIN1, Official Symbol NECTIN1provided by HGNC Official Full Name nectin cell adhesion molecule 1provided by HGNC Primary source HGNC:HGNC:9706 See related Ensembl:ENSG00000110400 MIM:600644; AllianceGenome:HGNC:9706 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 ED4; PRR; HIgR; HV1S; HVEC; OFC7; PRR1; PVRR; CD111; PVRL1; PVRR1; SK-12; CLPED1; nectin-1 Summary This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009] Expression Biased expression in skin (RPKM 64.2), esophagus (RPKM 38.3) and 8 other tissues See more Orthologs mouse all
NECTIN1-AS1, Official Symbol NECTIN1-AS1provided by HGNC Official Full Name NECTIN1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54270 See related Ensembl:ENSG00000255247 AllianceGenome:HGNC:54270 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
NECTIN2, Official Symbol NECTIN2provided by HGNC Official Full Name nectin cell adhesion molecule 2provided by HGNC Primary source HGNC:HGNC:9707 See related Ensembl:ENSG00000130202 MIM:600798; AllianceGenome:HGNC:9707 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 HVEB; PRR2; CD112; PVRL2; PVRR2 Summary This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 24.8), testis (RPKM 23.6) and 25 other tissues See more Orthologs mouse all
NECTIN3, Official Symbol NECTIN3provided by HGNC Official Full Name nectin cell adhesion molecule 3provided by HGNC Primary source HGNC:HGNC:17664 See related Ensembl:ENSG00000177707 MIM:607147; AllianceGenome:HGNC:17664 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 PPR3; PRR3; CD113; PVRL3; PVRR3; CDW113; NECTIN-3 Summary This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Broad expression in thyroid (RPKM 7.4), testis (RPKM 7.4) and 22 other tissues See more Orthologs mouse all
NECTIN4, Official Symbol NECTIN4provided by HGNC Official Full Name nectin cell adhesion molecule 4provided by HGNC Primary source HGNC:HGNC:19688 See related Ensembl:ENSG00000143217 MIM:609607; AllianceGenome:HGNC:19688 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 LNIR; PRR4; EDSS1; PVRL4; nectin-4 Summary This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011] Expression Biased expression in skin (RPKM 30.6), esophagus (RPKM 23.7) and 7 other tissues See more Orthologs mouse all
NEDD1, Official Symbol NEDD1provided by HGNC Official Full Name NEDD1 gamma-tubulin ring complex targeting factorprovided by HGNC Primary source HGNC:HGNC:7723 See related Ensembl:ENSG00000139350 MIM:600372; AllianceGenome:HGNC:7723 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 GCP-WD; TUBGCP7 Summary Predicted to be involved in protein localization to centrosome. Located in centrosome; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.1), lymph node (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
NEDD4, Official Symbol NEDD4provided by HGNC Official Full Name NEDD4 E3 ubiquitin protein ligaseprovided by HGNC Primary source HGNC:HGNC:7727 See related Ensembl:ENSG00000069869 MIM:602278; AllianceGenome:HGNC:7727 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 RPF1; NEDD4-1 Summary This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in placenta (RPKM 6.4), liver (RPKM 5.9) and 23 other tissues See more Orthologs mouse all
NEDD4L, Official Symbol NEDD4Lprovided by HGNC Official Full Name NEDD4 like E3 ubiquitin protein ligaseprovided by HGNC Primary source HGNC:HGNC:7728 See related Ensembl:ENSG00000049759 MIM:606384; AllianceGenome:HGNC:7728 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 RSP5; PVNH7; NEDD4-2; NEDD4.2; hNEDD4-2 Summary This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] Expression Broad expression in prostate (RPKM 13.1), kidney (RPKM 13.0) and 25 other tissues See more Orthologs mouse all
NEDD8, Official Symbol NEDD8provided by HGNC Official Full Name NEDD8 ubiquitin like modifierprovided by HGNC Primary source HGNC:HGNC:7732 See related Ensembl:ENSG00000129559 MIM:603171; AllianceGenome:HGNC:7732 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 NEDD-8 Summary Enables ubiquitin protein ligase binding activity. Acts upstream of or within protein neddylation. Located in cytosol and nucleoplasm. Biomarker of Parkinson's disease and malignant astrocytoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 81.8), kidney (RPKM 81.6) and 25 other tissues See more Orthologs mouse all
NEDD8-MDP1, Official Symbol NEDD8-MDP1provided by HGNC Official Full Name NEDD8-MDP1 readthroughprovided by HGNC Primary source HGNC:HGNC:39551 See related Ensembl:ENSG00000255526 AllianceGenome:HGNC:39551 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 This locus represents naturally occurring read-through transcription between the neighboring NEDD8 (neural precursor cell expressed, developmentally down-regulated 8) and MDP1 (magnesium-dependent phosphatase 1) genes on chromosome 14. One of the read-through transcripts on this locus encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in kidney (RPKM 46.4), fat (RPKM 46.0) and 25 other tissues See more Orthologs all
NEDD9, Official Symbol NEDD9provided by HGNC Official Full Name neural precursor cell expressed, developmentally down-regulated 9provided by HGNC Primary source HGNC:HGNC:7733 See related Ensembl:ENSG00000111859 MIM:602265; AllianceGenome:HGNC:7733 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 CAS2; CASL; HEF1; CAS-L; CASS2 Summary The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Broad expression in lung (RPKM 35.3), placenta (RPKM 25.4) and 22 other tissues See more Orthologs mouse all
NEFH, Official Symbol NEFHprovided by HGNC Official Full Name neurofilament heavy chainprovided by HGNC Primary source HGNC:HGNC:7737 See related Ensembl:ENSG00000100285 MIM:162230; AllianceGenome:HGNC:7737 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 NFH; CMT2CC Summary Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008] Expression Biased expression in prostate (RPKM 140.1), brain (RPKM 16.4) and 2 other tissues See more Orthologs mouse all
NEFHP1, Official Symbol NEFHP1provided by HGNC Official Full Name neurofilament heavy pseudogene 1provided by HGNC Primary source HGNC:HGNC:7738 See related Ensembl:ENSG00000223489 AllianceGenome:HGNC:7738 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 NEFHL
NEFL, Official Symbol NEFLprovided by HGNC Official Full Name neurofilament light chainprovided by HGNC Primary source HGNC:HGNC:7739 See related Ensembl:ENSG00000277586 MIM:162280; AllianceGenome:HGNC:7739 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 NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110 Summary Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008] Expression Biased expression in brain (RPKM 94.3) and adrenal (RPKM 9.8) See more Orthologs mouse all
NEFM, Official Symbol NEFMprovided by HGNC Official Full Name neurofilament medium chainprovided by HGNC Primary source HGNC:HGNC:7734 See related Ensembl:ENSG00000104722 MIM:162250; AllianceGenome:HGNC:7734 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 NFM; NEF3; NF-M Summary Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] Expression Biased expression in brain (RPKM 56.0), adrenal (RPKM 9.7) and 1 other tissue See more Orthologs mouse all
NEFMP1, Official Symbol NEFMP1provided by HGNC Official Full Name neurofilament medium pseudogene 1provided by HGNC Primary source HGNC:HGNC:45030 See related Ensembl:ENSG00000224697 AllianceGenome:HGNC:45030 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NEGR1, Official Symbol NEGR1provided by HGNC Official Full Name neuronal growth regulator 1provided by HGNC Primary source HGNC:HGNC:17302 See related Ensembl:ENSG00000172260 MIM:613173; AllianceGenome:HGNC:17302 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 Ntra; KILON; IGLON4; DMML2433 Summary Predicted to act upstream of or within several processes, including feeding behavior; locomotory behavior; and positive regulation of neuron projection development. Predicted to be located in extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 13.7), fat (RPKM 5.3) and 18 other tissues See more Orthologs mouse all
NEGR1-IT1, Official Symbol NEGR1-IT1provided by HGNC Official Full Name NEGR1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41432 See related Ensembl:ENSG00000228853 AllianceGenome:HGNC:41432 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
NEIL1, Official Symbol NEIL1provided by HGNC Official Full Name nei like DNA glycosylase 1provided by HGNC Primary source HGNC:HGNC:18448 See related Ensembl:ENSG00000140398 MIM:608844; AllianceGenome:HGNC:18448 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 FPG1; NEI1; hFPG1 Summary This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in lymph node (RPKM 8.2), bone marrow (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
NEIL2, Official Symbol NEIL2provided by HGNC Official Full Name nei like DNA glycosylase 2provided by HGNC Primary source HGNC:HGNC:18956 See related Ensembl:ENSG00000154328 MIM:608933; AllianceGenome:HGNC:18956 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 NEH2; NEI2 Summary This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in testis (RPKM 14.3), brain (RPKM 9.4) and 24 other tissues See more Orthologs mouse all
NEIL3, Official Symbol NEIL3provided by HGNC Official Full Name nei like DNA glycosylase 3provided by HGNC Primary source HGNC:HGNC:24573 See related Ensembl:ENSG00000109674 MIM:608934; AllianceGenome:HGNC:24573 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 FGP2; FPG2; NEI3; ZGRF3; hFPG2; hNEI3 Summary NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008] Expression Biased expression in bone marrow (RPKM 2.5), lymph node (RPKM 1.9) and 13 other tissues See more Orthologs mouse all
NEK1, Official Symbol NEK1provided by HGNC Official Full Name NIMA related kinase 1provided by HGNC Primary source HGNC:HGNC:7744 See related Ensembl:ENSG00000137601 MIM:604588; AllianceGenome:HGNC:7744 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 ALS24; SRPS2; SRTD6; SRPS2A; NY-REN-55 Summary The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in testis (RPKM 6.8), brain (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
NEK10, Official Symbol NEK10provided by HGNC Official Full Name NIMA related kinase 10provided by HGNC Primary source HGNC:HGNC:18592 See related Ensembl:ENSG00000163491 MIM:618726; AllianceGenome:HGNC:18592 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 CILD44 Summary Enables protein kinase activity. Involved in several processes, including mucociliary clearance; positive regulation of protein phosphorylation; and regulation of ERK1 and ERK2 cascade. Part of protein kinase complex. Implicated in primary ciliary dyskinesia 44. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 2.8), brain (RPKM 0.3) and 6 other tissues See more Orthologs mouse all
NEK11, Official Symbol NEK11provided by HGNC Official Full Name NIMA related kinase 11provided by HGNC Primary source HGNC:HGNC:18593 See related Ensembl:ENSG00000114670 MIM:609779; AllianceGenome:HGNC:18593 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 This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009] Expression Broad expression in testis (RPKM 4.2), thyroid (RPKM 2.7) and 22 other tissues See more Orthologs mouse all
NEK2, Official Symbol NEK2provided by HGNC Official Full Name NIMA related kinase 2provided by HGNC Primary source HGNC:HGNC:7745 See related Ensembl:ENSG00000117650 MIM:604043; AllianceGenome:HGNC:7745 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 NLK1; RP67; NEK2A; HsPK21; PPP1R111 Summary This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011] Expression Biased expression in testis (RPKM 28.1), bone marrow (RPKM 3.8) and 6 other tissues See more Orthologs mouse all
NEK3, Official Symbol NEK3provided by HGNC Official Full Name NIMA related kinase 3provided by HGNC Primary source HGNC:HGNC:7746 See related Ensembl:ENSG00000136098 MIM:604044; AllianceGenome:HGNC:7746 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 HSPK36 Summary This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Two functional alleles for this gene have been identified in humans. The reference genome assembly (GRCh38) represents a functional allele that is associated with the inclusion of an additional coding exon in protein-coding transcripts, compared to an alternate functional allele that lacks the exon. [provided by RefSeq, Sep 2019] Annotation information Note: Available sequence data supports two haplotypes in the human population that differ by a 1 nt indel (rs3837575) at the end of exon 10. Both haplotypes appear to encode functional proteins via alternative splicing of exon 11. The GRCh38 reference assembly includes the extra nt and expresses a full-length protein that includes exon 11, whereas haplotypes that lack the extra nt express a full-length protein lacking exon 11. [30 Sep 2019] Expression Broad expression in testis (RPKM 10.8), placenta (RPKM 6.5) and 24 other tissues See more Orthologs mouse all