psui3905/ncbi_genes_summary huggingface dataset:
NKAIN4, Official Symbol NKAIN4provided by HGNC Official Full Name sodium/potassium transporting ATPase interacting 4provided by HGNC Primary source HGNC:HGNC:16191 See related Ensembl:ENSG00000101198 MIM:612873; AllianceGenome:HGNC:16191 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 FAM77A; C20orf58; bA261N11.2 Summary NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009] Expression Biased expression in brain (RPKM 15.5), kidney (RPKM 2.4) and 1 other tissue See more Orthologs mouse all
NKAP, Official Symbol NKAPprovided by HGNC Official Full Name NFKB activating proteinprovided by HGNC Primary source HGNC:HGNC:29873 See related Ensembl:ENSG00000101882 MIM:300766; AllianceGenome:HGNC:29873 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 MRXSHD Summary This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010] Expression Ubiquitous expression in placenta (RPKM 6.5), ovary (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
NKAPD1, Official Symbol NKAPD1provided by HGNC Official Full Name NKAP domain containing 1provided by HGNC Primary source HGNC:HGNC:25569 See related Ensembl:ENSG00000150776 AllianceGenome:HGNC:25569 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 C11orf57 Summary Enables identical protein binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 9.5), brain (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
NKAPL, Official Symbol NKAPLprovided by HGNC Official Full Name NFKB activating protein likeprovided by HGNC Primary source HGNC:HGNC:21584 See related Ensembl:ENSG00000189134 AllianceGenome:HGNC:21584 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 C6orf194; bA424I5.1 Summary Predicted to enable chromatin binding activity. Predicted to be involved in regulation of gene expression. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
NKAPP1, Official Symbol NKAPP1provided by HGNC Official Full Name NFKB activating protein pseudogene 1provided by HGNC Primary source HGNC:HGNC:26706 See related Ensembl:ENSG00000233382 AllianceGenome:HGNC:26706 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CXorf42 Expression Low expression observed in reference dataset See more
NKD1, Official Symbol NKD1provided by HGNC Official Full Name NKD inhibitor of WNT signaling pathway 1provided by HGNC Primary source HGNC:HGNC:17045 See related Ensembl:ENSG00000140807 MIM:607851; AllianceGenome:HGNC:17045 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 Naked1 Summary In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003] Expression Broad expression in lung (RPKM 3.1), brain (RPKM 2.1) and 20 other tissues See more Orthologs mouse all
NKD2, Official Symbol NKD2provided by HGNC Official Full Name NKD inhibitor of WNT signaling pathway 2provided by HGNC Primary source HGNC:HGNC:17046 See related Ensembl:ENSG00000145506 MIM:607852; AllianceGenome:HGNC:17046 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 Naked2 Summary This gene encodes a member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] Expression Broad expression in lung (RPKM 6.0), skin (RPKM 2.9) and 15 other tissues See more Orthologs mouse all
NKG7, Official Symbol NKG7provided by HGNC Official Full Name natural killer cell granule protein 7provided by HGNC Primary source HGNC:HGNC:7830 See related Ensembl:ENSG00000105374 MIM:606008; AllianceGenome:HGNC:7830 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 GIG1; GMP-17; p15-TIA-1 Summary Predicted to be integral component of plasma membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 170.3), spleen (RPKM 54.6) and 5 other tissues See more Orthologs mouse all
NKILA, Official Symbol NKILAprovided by HGNC Official Full Name NF-kappaB interacting lncRNAprovided by HGNC Primary source HGNC:HGNC:51599 See related Ensembl:ENSG00000278709 AllianceGenome:HGNC:51599 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NKIRAS1, Official Symbol NKIRAS1provided by HGNC Official Full Name NFKB inhibitor interacting Ras like 1provided by HGNC Primary source HGNC:HGNC:17899 See related Ensembl:ENSG00000197885 MIM:604496; AllianceGenome:HGNC:17899 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 KBRAS1; kappaB-Ras1 Summary Predicted to enable GTPase activating protein binding activity. Predicted to be involved in I-kappaB kinase/NF-kappaB signaling. Predicted to act upstream of or within several processes, including Ral protein signal transduction; lung alveolus development; and surfactant homeostasis. Located in cytosol and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 15.3), testis (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
NKIRAS2, Official Symbol NKIRAS2provided by HGNC Official Full Name NFKB inhibitor interacting Ras like 2provided by HGNC Primary source HGNC:HGNC:17898 See related Ensembl:ENSG00000168256 MIM:604497; AllianceGenome:HGNC:17898 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 KBRAS2; kappaB-Ras2 Summary Predicted to enable GTPase activating protein binding activity. Predicted to be involved in I-kappaB kinase/NF-kappaB signaling. Predicted to act upstream of or within several processes, including Ral protein signal transduction; regulation of signal transduction; and surfactant homeostasis. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 30.4), esophagus (RPKM 22.7) and 25 other tissues See more Orthologs mouse all
NKPD1, Official Symbol NKPD1provided by HGNC Official Full Name NTPase KAP family P-loop domain containing 1provided by HGNC Primary source HGNC:HGNC:24739 See related Ensembl:ENSG00000179846 AllianceGenome:HGNC:24739 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 be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 5.9) and testis (RPKM 0.4) See more Orthologs mouse all
NKRF, Official Symbol NKRFprovided by HGNC Official Full Name NFKB repressing factorprovided by HGNC Primary source HGNC:HGNC:19374 See related Ensembl:ENSG00000186416 MIM:300440; AllianceGenome:HGNC:19374 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 NRF; ITBA4 Summary This gene encodes a transcriptional repressor that interacts with specific negative regulatory elements to mediate transcriptional repression of certain nuclear factor kappa B responsive genes. The protein localizes predominantly to the nucleolus with a small fraction found in the nucleoplasm and cytoplasm. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Annotation information Annotation category: suggests misassembly Expression Ubiquitous expression in brain (RPKM 6.5), lymph node (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
NKTR, Official Symbol NKTRprovided by HGNC Official Full Name natural killer cell triggering receptorprovided by HGNC Primary source HGNC:HGNC:7833 See related Ensembl:ENSG00000114857 MIM:161565; AllianceGenome:HGNC:7833 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 p104 Summary This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 22.3), skin (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
NKX1-1, Official Symbol NKX1-1provided by HGNC Official Full Name NK1 homeobox 1provided by HGNC Primary source HGNC:HGNC:24975 See related Ensembl:ENSG00000235608 MIM:617869; AllianceGenome:HGNC:24975 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 SAX2; HSPX153; NKX-1.1 Summary This gene encodes a transcription factor that belongs to NKX family of homeodomain-containing proteins which are critical regulators of organ development. In mice, the orthologous gene is expressed predominantly in the brainstem, in the vicinity of serotonergic neurons, and is required for the coordinated crosstalk of factors involved in the maintenance of energy homeostasis. Mice with a knockout of the orthologous gene lack subcutaneous fat and intra-abdominal epididymal and mesenteric white adipose tissue two weeks after birth, and die within three weeks after birth. [provided by RefSeq, Jul 2017] Expression Low expression observed in reference dataset See more Orthologs mouse all
NKX1-2, Official Symbol NKX1-2provided by HGNC Official Full Name NK1 homeobox 2provided by HGNC Primary source HGNC:HGNC:31652 See related Ensembl:ENSG00000229544 AllianceGenome:HGNC:31652 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 NKX-1.1; C10orf121; bB238F13.2 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 cell differentiation and regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
NKX2-1, Official Symbol NKX2-1provided by HGNC Official Full Name NK2 homeobox 1provided by HGNC Primary source HGNC:HGNC:11825 See related Ensembl:ENSG00000136352 MIM:600635; AllianceGenome:HGNC:11825 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 BCH; BHC; NK-2; TEBP; TTF1; NKX2A; NMTC1; T/EBP; TITF1; TTF-1; NKX2.1 Summary This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014] Annotation information Note: TTF1 (GeneID 7270) and NKX2-1 (GeneID 7080) loci share the TTF1 symbol/alias in common. TTF1 is a widely used alternative name for thyroid transcription factor 1 (NKX2-1) conflicting with the official symbol for transcription termination factor, RNA polymerase I (TTF1). [13 Feb 2013] Expression Biased expression in lung (RPKM 35.0) and thyroid (RPKM 29.1) See more Orthologs mouse all
NKX2-1-AS1, Official Symbol NKX2-1-AS1provided by HGNC Official Full Name NKX2-1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40585 See related Ensembl:ENSG00000253563 AllianceGenome:HGNC:40585 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 lung (RPKM 10.5) and thyroid (RPKM 9.6) See more
NKX2-2, Official Symbol NKX2-2provided by HGNC Official Full Name NK2 homeobox 2provided by HGNC Primary source HGNC:HGNC:7835 See related Ensembl:ENSG00000125820 MIM:604612; AllianceGenome:HGNC:7835 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 NKX2B; NKX2.2 Summary The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 3.1), stomach (RPKM 1.3) and 4 other tissues See more Orthologs mouse all
NKX2-3, Official Symbol NKX2-3provided by HGNC Official Full Name NK2 homeobox 3provided by HGNC Primary source HGNC:HGNC:7836 See related Ensembl:ENSG00000119919 MIM:606727; AllianceGenome:HGNC:7836 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 CSX3; NK2.3; NKX2C; NKX2.3; NKX4-3 Summary This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010] Expression Biased expression in spleen (RPKM 11.9), small intestine (RPKM 4.8) and 5 other tissues See more Orthologs mouse all
NKX2-4, Official Symbol NKX2-4provided by HGNC Official Full Name NK2 homeobox 4provided by HGNC Primary source HGNC:HGNC:7837 See related Ensembl:ENSG00000125816 MIM:607808; AllianceGenome:HGNC:7837 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 NKX2D; NKX2.4 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 cell differentiation and regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
NKX2-5, Official Symbol NKX2-5provided by HGNC Official Full Name NK2 homeobox 5provided by HGNC Primary source HGNC:HGNC:2488 See related Ensembl:ENSG00000183072 MIM:600584; AllianceGenome:HGNC:2488 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 CSX; CSX1; VSD3; CHNG5; HLHS2; NKX2E; NKX2.5; NKX4-1 Summary This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Restricted expression toward heart (RPKM 9.4) See more Orthologs mouse all
NKX2-6, Official Symbol NKX2-6provided by HGNC Official Full Name NK2 homeobox 6provided by HGNC Primary source HGNC:HGNC:32940 See related Ensembl:ENSG00000180053 MIM:611770; AllianceGenome:HGNC:32940 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 CSX2; CTHM; NKX2F; NKX4-2 Summary This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
NKX2-8, Official Symbol NKX2-8provided by HGNC Official Full Name NK2 homeobox 8provided by HGNC Primary source HGNC:HGNC:16364 See related Ensembl:ENSG00000136327 MIM:603245; AllianceGenome:HGNC:16364 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 NKX2H; NKX2.8; Nkx2-9 Summary The protein encoded by this gene is a homeobox-containing developmental regulator associated with liver development. The encoded protein binds to the alpha-fetoprotein (AFP) gene promoter and increases the expression of AFP. This gene is overexpressed in some lung cancers and is linked to poor patient survival, possibly due to its resistance to cisplatin. This gene is aberrantly methylated in pancreatic cancer, deleted in squamous cell lung carcinomas, and acts as a tumor suppressor in esophageal cancer. Mutations in this gene may also be a cause of neural tube defects. [provided by RefSeq, Dec 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
NKX3-1, Official Symbol NKX3-1provided by HGNC Official Full Name NK3 homeobox 1provided by HGNC Primary source HGNC:HGNC:7838 See related Ensembl:ENSG00000167034 MIM:602041; AllianceGenome:HGNC:7838 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 NKX3; BAPX2; NKX3A; NKX3.1 Summary This gene encodes a homeobox-containing transcription factor. This transcription factor functions as a negative regulator of epithelial cell growth in prostate tissue. Aberrant expression of this gene is associated with prostate tumor progression. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jan 2012] Expression Biased expression in prostate (RPKM 180.9) and testis (RPKM 17.6) See more Orthologs mouse all
NKX3-2, Official Symbol NKX3-2provided by HGNC Official Full Name NK3 homeobox 2provided by HGNC Primary source HGNC:HGNC:951 See related Ensembl:ENSG00000109705 MIM:602183; AllianceGenome:HGNC:951 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 SMMD; BAPX1; NKX3B; NKX3.2 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation; negative regulation of chondrocyte differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including animal organ development; embryonic skeletal system development; and intestinal epithelial cell development. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in spleen (RPKM 1.5), ovary (RPKM 0.7) and 10 other tissues See more Orthologs mouse all
NKX6-1, Official Symbol NKX6-1provided by HGNC Official Full Name NK6 homeobox 1provided by HGNC Primary source HGNC:HGNC:7839 See related Ensembl:ENSG00000163623 MIM:602563; AllianceGenome:HGNC:7839 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 NKX6A; NKX6.1 Summary In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008] Expression Biased expression in esophagus (RPKM 3.3), thyroid (RPKM 0.9) and 4 other tissues See more Orthologs mouse all
NKX6-2, Official Symbol NKX6-2provided by HGNC Official Full Name NK6 homeobox 2provided by HGNC Primary source HGNC:HGNC:19321 See related Ensembl:ENSG00000148826 MIM:605955; AllianceGenome:HGNC:19321 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 GTX; NKX6B; SPAX8; NKX6.2 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation; regulation of myelination; and regulation of transcription, DNA-templated. Predicted to act upstream of or within several processes, including negative regulation of transcription by RNA polymerase II; neurogenesis; and neuromuscular process controlling balance. Predicted to be part of chromatin. Predicted to be active in nucleus. Implicated in spastic ataxia 8. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in stomach (RPKM 17.5), brain (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
NKX6-3, Official Symbol NKX6-3provided by HGNC Official Full Name NK6 homeobox 3provided by HGNC Primary source HGNC:HGNC:26328 See related Ensembl:ENSG00000165066 MIM:610772; AllianceGenome:HGNC:26328 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 NKX6.3 Summary The NKX family of homeodomain proteins controls numerous developmental processes. Members of the NKX6 subfamily, including NKX6-3, are involved in development of the central nervous system (CNS), gastrointestinal tract, and pancreas (Alanentalo et al., 2006 [PubMed 16326147]).[supplied by OMIM, Mar 2008] Expression Biased expression in stomach (RPKM 15.7) and duodenum (RPKM 4.5) See more Orthologs mouse all
NLE1, Official Symbol NLE1provided by HGNC Official Full Name notchless homolog 1provided by HGNC Primary source HGNC:HGNC:19889 See related Ensembl:ENSG00000073536 AllianceGenome:HGNC:19889 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 NLE; Rsa4 Summary Predicted to be involved in Notch signaling pathway and ribosomal large subunit assembly. Predicted to act upstream of or within several processes, including chordate embryonic development; hematopoietic stem cell homeostasis; and regulation of signal transduction. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.4), ovary (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
NLGN1, Official Symbol NLGN1provided by HGNC Official Full Name neuroligin 1provided by HGNC Primary source HGNC:HGNC:14291 See related Ensembl:ENSG00000169760 MIM:600568; AllianceGenome:HGNC:14291 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 NL1; NLG1 Summary This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 1.7), testis (RPKM 0.4) and 11 other tissues See more Orthologs mouse all
NLGN1-AS1, Official Symbol NLGN1-AS1provided by HGNC Official Full Name NLGN1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40676 See related Ensembl:ENSG00000228213 AllianceGenome:HGNC:40676 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
NLGN2, Official Symbol NLGN2provided by HGNC Official Full Name neuroligin 2provided by HGNC Primary source HGNC:HGNC:14290 See related Ensembl:ENSG00000169992 MIM:606479; AllianceGenome:HGNC:14290 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 a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 29.8), endometrium (RPKM 15.7) and 20 other tissues See more Orthologs mouse all
NLGN3, Official Symbol NLGN3provided by HGNC Official Full Name neuroligin 3provided by HGNC Primary source HGNC:HGNC:14289 See related Ensembl:ENSG00000196338 MIM:300336; AllianceGenome:HGNC:14289 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 HNL3 Summary This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009] Expression Biased expression in brain (RPKM 14.8), adrenal (RPKM 2.6) and 4 other tissues See more Orthologs mouse all
NLGN4X, Official Symbol NLGN4Xprovided by HGNC Official Full Name neuroligin 4 X-linkedprovided by HGNC Primary source HGNC:HGNC:14287 See related Ensembl:ENSG00000146938 MIM:300427; AllianceGenome:HGNC:14287 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 HLNX; HNL4X; NLGN4; ASPGX2; AUTSX2 Summary This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in brain (RPKM 6.8), ovary (RPKM 4.3) and 19 other tissues See more Orthologs all
NLGN4Y, Official Symbol NLGN4Yprovided by HGNC Official Full Name neuroligin 4 Y-linkedprovided by HGNC Primary source HGNC:HGNC:15529 See related Ensembl:ENSG00000165246 MIM:400028; AllianceGenome:HGNC:15529 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 HNL4Y Summary This gene encodes a type I membrane protein that belongs to the family of neuroligins, which are cell adhesion molecules present at the postsynaptic side of the synapse, and may be essential for the formation of functional synapses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Mar 2011] Expression Biased expression in brain (RPKM 2.6), prostate (RPKM 1.8) and 13 other tissues See more Orthologs all
NLGN4Y-AS1, Official Symbol NLGN4Y-AS1provided by HGNC Official Full Name NLGN4Y antisense RNA 1provided by HGNC Primary source HGNC:HGNC:38793 See related Ensembl:ENSG00000228787 AllianceGenome:HGNC:38793 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NLGN4YAS; NLGN4Y-AS Expression Low expression observed in reference dataset See more
NLK, Official Symbol NLKprovided by HGNC Official Full Name nemo like kinaseprovided by HGNC Primary source HGNC:HGNC:29858 See related Ensembl:ENSG00000087095 MIM:609476; AllianceGenome:HGNC:29858 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 Enables ubiquitin protein ligase binding activity. Involved in protein stabilization and transforming growth factor beta receptor signaling pathway. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 18.0), adrenal (RPKM 18.0) and 25 other tissues See more Orthologs mouse all
NLN, Official Symbol NLNprovided by HGNC Official Full Name neurolysinprovided by HGNC Primary source HGNC:HGNC:16058 See related Ensembl:ENSG00000123213 MIM:611530; AllianceGenome:HGNC:16058 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 MEP; MOP; AGTBP; EP24.16 Summary This gene encodes a member of the metallopeptidase M3 protein family that cleaves neurotensin at the Pro10-Tyr11 bond, leading to the formation of neurotensin(1-10) and neurotensin(11-13). The encoded protein is likely involved in the termination of the neurotensinergic signal in the central nervous system and in the gastrointestinal tract.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in liver (RPKM 3.9), brain (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
NLRC3, Official Symbol NLRC3provided by HGNC Official Full Name NLR family CARD domain containing 3provided by HGNC Primary source HGNC:HGNC:29889 See related Ensembl:ENSG00000167984 MIM:615648; AllianceGenome:HGNC:29889 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 NOD3; CLR16.2 Summary This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Broad expression in lymph node (RPKM 6.9), spleen (RPKM 4.9) and 23 other tissues See more Orthologs mouse all
NLRC4, Official Symbol NLRC4provided by HGNC Official Full Name NLR family CARD domain containing 4provided by HGNC Primary source HGNC:HGNC:16412 See related Ensembl:ENSG00000091106 MIM:606831; AllianceGenome:HGNC:16412 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 CLAN; IPAF; AIFEC; CLAN1; CLANA; CLANB; CLANC; CLAND; FCAS4; CARD12; CLR2.1 Summary This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Expression Broad expression in appendix (RPKM 5.7), bone marrow (RPKM 3.2) and 17 other tissues See more Orthologs mouse all
NLRC5, Official Symbol NLRC5provided by HGNC Official Full Name NLR family CARD domain containing 5provided by HGNC Primary source HGNC:HGNC:29933 See related Ensembl:ENSG00000140853 MIM:613537; AllianceGenome:HGNC:29933 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 NOD4; NOD27; CLR16.1 Summary This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011] Expression Broad expression in spleen (RPKM 23.6), lymph node (RPKM 20.1) and 22 other tissues See more Orthologs mouse all
NLRP1, Official Symbol NLRP1provided by HGNC Official Full Name NLR family pyrin domain containing 1provided by HGNC Primary source HGNC:HGNC:14374 See related Ensembl:ENSG00000091592 MIM:606636; AllianceGenome:HGNC:14374 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 NAC; JRRP; MSPC; AIADK; CARD7; CIDED; NALP1; SLEV1; DEFCAP; PP1044; VAMAS1; CLR17.1; DEFCAP-L/S Summary This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in skin (RPKM 23.7), spleen (RPKM 21.9) and 21 other tissues See more Orthologs mouse all
NLRP10, Official Symbol NLRP10provided by HGNC Official Full Name NLR family pyrin domain containing 10provided by HGNC Primary source HGNC:HGNC:21464 See related Ensembl:ENSG00000182261 MIM:609662; AllianceGenome:HGNC:21464 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 NOD8; PAN5; PYNOD; NALP10; CLR11.1 Summary Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq, Jul 2008] Expression Restricted expression toward skin (RPKM 2.7) See more Orthologs mouse all
NLRP11, Official Symbol NLRP11provided by HGNC Official Full Name NLR family pyrin domain containing 11provided by HGNC Primary source HGNC:HGNC:22945 See related Ensembl:ENSG00000179873 MIM:609664; AllianceGenome:HGNC:22945 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 NOD17; PAN10; NALP11; PYPAF6; PYPAF7; CLR19.6 Summary This gene is a member of the the NOD-like receptor protein (NLRP) gene family and encodes a protein with an N-terminal pyrin death (PYD) domain and nucleoside triphosphate hydrolase (NACHT) domain and a C-terminal leucine-rich repeats (LRR) region. This gene has been shown to regulate caspases in the proinflammatory signal transduction pathway and, based on studies of other members of the NLRP gene family with similar domain structure, is predicted to form part of the multiprotein inflammasome complex. Alternative splicing produces multiple transcript variants encoding distince isoforms. [provided by RefSeq, May 2017] Expression Low expression observed in reference dataset See more Orthologs all
NLRP12, Official Symbol NLRP12provided by HGNC Official Full Name NLR family pyrin domain containing 12provided by HGNC Primary source HGNC:HGNC:22938 See related Ensembl:ENSG00000142405 MIM:609648; AllianceGenome:HGNC:22938 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 RNO; PAN6; RNO2; FCAS2; NALP12; PYPAF7; CLR19.3 Summary This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] Expression Biased expression in bone marrow (RPKM 2.2), appendix (RPKM 1.2) and 7 other tissues See more Orthologs mouse all
NLRP13, Official Symbol NLRP13provided by HGNC Official Full Name NLR family pyrin domain containing 13provided by HGNC Primary source HGNC:HGNC:22937 See related Ensembl:ENSG00000173572 MIM:609660; AllianceGenome:HGNC:22937 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 NOD14; PAN13; NALP13; CLR19.7 Summary This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016] Expression Low expression observed in reference dataset See more Orthologs all
NLRP14, Official Symbol NLRP14provided by HGNC Official Full Name NLR family pyrin domain containing 14provided by HGNC Primary source HGNC:HGNC:22939 See related Ensembl:ENSG00000158077 MIM:609665; AllianceGenome:HGNC:22939 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 NOD5; PAN8; GC-LRR; NALP14; CLR11.2 Summary The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
NLRP2, Official Symbol NLRP2provided by HGNC Official Full Name NLR family pyrin domain containing 2provided by HGNC Primary source HGNC:HGNC:22948 See related Ensembl:ENSG00000022556 MIM:609364; AllianceGenome:HGNC:22948 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 NBS1; PAN1; NALP2; PYPAF2; CLR19.9; OZEMA18 Summary This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016] Expression Broad expression in placenta (RPKM 9.2), urinary bladder (RPKM 9.0) and 16 other tissues See more Orthologs all
NLRP2B, Official Symbol NLRP2Bprovided by HGNC Official Full Name NLR family pyrin domain containing 2Bprovided by HGNC Primary source HGNC:HGNC:29887 See related Ensembl:ENSG00000215174 AllianceGenome:HGNC:29887 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 POP4; NOD24; CLRX.1; NALP2P; NLRP2P Summary Involved in several processes, including negative regulation of NF-kappaB transcription factor activity; negative regulation of peptidyl-serine phosphorylation; and negative regulation of signal transduction. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all