psui3905/ncbi_genes_summary huggingface dataset:
NAT1, Official Symbol NAT1provided by HGNC Official Full Name N-acetyltransferase 1provided by HGNC Primary source HGNC:HGNC:7645 See related Ensembl:ENSG00000171428 MIM:108345; AllianceGenome:HGNC:7645 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 AAC1; MNAT; NATI; NAT-1 Summary This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Annotation information Note: Loci in other organisms that are functionally homologous to this one are validly referred to as both NAT1 and NAT2; i.e., the functional homologs of NAT1 include mouse and rat Nat2, while the functional homologs of human NAT2 include mouse and rat Nat1. Name:sequence associations are consistent with current use in the field. [13 Feb 2013] Expression Ubiquitous expression in colon (RPKM 3.6), duodenum (RPKM 2.9) and 23 other tissues See more Orthologs mouse all
NAT10, Official Symbol NAT10provided by HGNC Official Full Name N-acetyltransferase 10provided by HGNC Primary source HGNC:HGNC:29830 See related Ensembl:ENSG00000135372 MIM:609221; AllianceGenome:HGNC:29830 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 ALP; Kre33; NET43 Summary The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in lymph node (RPKM 12.6), testis (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
NAT14, Official Symbol NAT14provided by HGNC Official Full Name N-acetyltransferase 14 (putative)provided by HGNC Primary source HGNC:HGNC:28918 See related Ensembl:ENSG00000090971 AllianceGenome:HGNC:28918 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 KLP1 Summary Predicted to enable N-acetyltransferase activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 11.8), kidney (RPKM 6.5) and 23 other tissues See more Orthologs mouse all
NAT16, Official Symbol NAT16provided by HGNC Official Full Name N-acetyltransferase 16 (putative)provided by HGNC Primary source HGNC:HGNC:22030 See related Ensembl:ENSG00000167011 MIM:615783; AllianceGenome:HGNC:22030 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 C7orf52 Summary Predicted to enable acyltransferase activity, transferring groups other than amino-acyl groups. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 1.2), brain (RPKM 1.0) and 2 other tissues See more Orthologs all
NAT2, Official Symbol NAT2provided by HGNC Official Full Name N-acetyltransferase 2provided by HGNC Primary source HGNC:HGNC:7646 See related Ensembl:ENSG00000156006 MIM:612182; AllianceGenome:HGNC:7646 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 AAC2; PNAT; NAT-2 Summary This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019] Annotation information Note: Loci in other organisms that are functionally homologous to this one are validly referred to as both NAT1 and NAT2; i.e., the functional homologs of NAT1 include mouse and rat Nat2, while the functional homologs of human NAT2 include mouse and rat Nat1. Name:sequence associations are consistent with current use in the field. [13 Feb 2013] Expression Biased expression in liver (RPKM 16.4), duodenum (RPKM 11.9) and 2 other tissues See more Orthologs all
NAT8, Official Symbol NAT8provided by HGNC Official Full Name N-acetyltransferase 8 (putative)provided by HGNC Primary source HGNC:HGNC:18069 See related Ensembl:ENSG00000144035 MIM:606716; AllianceGenome:HGNC:18069 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 GLA; CML1; CCNAT; Hcml1; ATase2; TSC501; TSC510 Summary This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008] Expression Restricted expression toward kidney (RPKM 344.5) See more Orthologs all
NAT8B, Official Symbol NAT8Bprovided by HGNC Official Full Name N-acetyltransferase 8B (putative, gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:30235 See related MIM:608190; AllianceGenome:HGNC:30235 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 CML2; Hcml2; NAT8BP Summary This gene is highly similar to the N-acetyltransferase 8 (NAT8) gene which encodes a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and represents a human-specific transcribed pseudogene of NAT8. This gene contains two common polymorphic nonsense mutations that disrupt the active site of the protein. In the extremely rare event when both nonsense mutations are absent, the predicted protein would contain a complete acetyltransferase domain and would be identical in length to NAT8. [provided by RefSeq, Apr 2022] Orthologs all
NAT8L, Official Symbol NAT8Lprovided by HGNC Official Full Name N-acetyltransferase 8 likeprovided by HGNC Primary source HGNC:HGNC:26742 See related Ensembl:ENSG00000185818 MIM:610647; AllianceGenome:HGNC:26742 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 CML3; NACED; NAT8-LIKE Summary This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010] Expression Biased expression in fat (RPKM 41.3), brain (RPKM 25.5) and 2 other tissues See more Orthologs mouse all
NAT9, Official Symbol NAT9provided by HGNC Official Full Name N-acetyltransferase 9 (putative)provided by HGNC Primary source HGNC:HGNC:23133 See related Ensembl:ENSG00000109065 AllianceGenome:HGNC:23133 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 EBSP, hNATL Summary Predicted to enable N-acetyltransferase activity. Predicted to be involved in protein acetylation. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 10.4), ovary (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
NATD1, Official Symbol NATD1provided by HGNC Official Full Name N-acetyltransferase domain containing 1provided by HGNC Primary source HGNC:HGNC:30770 See related Ensembl:ENSG00000274180 AllianceGenome:HGNC:30770 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 Gtlf3b; C17orf103 Expression Ubiquitous expression in fat (RPKM 12.3), bone marrow (RPKM 8.0) and 24 other tissues See more Orthologs mouse all
NAV1, Official Symbol NAV1provided by HGNC Official Full Name neuron navigator 1provided by HGNC Primary source HGNC:HGNC:15989 See related Ensembl:ENSG00000134369 MIM:611628; AllianceGenome:HGNC:15989 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 POMFIL3; UNC53H1; STEERIN1 Summary This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in brain (RPKM 9.5), fat (RPKM 4.5) and 22 other tissues See more Orthologs mouse all
NAV2, Official Symbol NAV2provided by HGNC Official Full Name neuron navigator 2provided by HGNC Primary source HGNC:HGNC:15997 See related Ensembl:ENSG00000166833 MIM:607026; AllianceGenome:HGNC:15997 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 HELAD1; RAINB1; POMFIL2; UNC53H2; STEERIN2 Summary This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in thyroid (RPKM 4.0), brain (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
NAV2-AS2, Official Symbol NAV2-AS2provided by HGNC Official Full Name NAV2 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40743 See related Ensembl:ENSG00000254453 AllianceGenome:HGNC:40743 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 Broad expression in heart (RPKM 17.8), thyroid (RPKM 6.2) and 19 other tissues See more
NAV2-AS3, Official Symbol NAV2-AS3provided by HGNC Official Full Name NAV2 antisense RNA 3provided by HGNC Primary source HGNC:HGNC:40742 See related Ensembl:ENSG00000254542 AllianceGenome:HGNC:40742 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NAV2-AS4, Official Symbol NAV2-AS4provided by HGNC Official Full Name NAV2 antisense RNA 4provided by HGNC Primary source HGNC:HGNC:40741 See related Ensembl:ENSG00000254622 AllianceGenome:HGNC:40741 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
NAV2-AS5, Official Symbol NAV2-AS5provided by HGNC Official Full Name NAV2 antisense RNA 5provided by HGNC Primary source HGNC:HGNC:40740 See related Ensembl:ENSG00000255043 AllianceGenome:HGNC:40740 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
NAV3, Official Symbol NAV3provided by HGNC Official Full Name neuron navigator 3provided by HGNC Primary source HGNC:HGNC:15998 See related Ensembl:ENSG00000067798 MIM:611629; AllianceGenome:HGNC:15998 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 POMFIL1; unc53H3; STEERIN3 Summary This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 3.5), ovary (RPKM 2.8) and 14 other tissues See more Orthologs mouse all
NAXD, Official Symbol NAXDprovided by HGNC Official Full Name NAD(P)HX dehydrataseprovided by HGNC Primary source HGNC:HGNC:25576 See related Ensembl:ENSG00000213995 MIM:615910; AllianceGenome:HGNC:25576 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 CARKD; LP3298; PEBEL2 Summary Enables ATP-dependent NAD(P)H-hydrate dehydratase activity. Predicted to be involved in metabolite repair. Predicted to be located in cytosol; endoplasmic reticulum; and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 20.3), ovary (RPKM 19.8) and 25 other tissues See more Orthologs mouse all
NAXE, Official Symbol NAXEprovided by HGNC Official Full Name NAD(P)HX epimeraseprovided by HGNC Primary source HGNC:HGNC:18453 See related Ensembl:ENSG00000163382 MIM:608862; AllianceGenome:HGNC:18453 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 AIBP; PEBEL; YJEFN1; APOA1BP Summary The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 11.3), prostate (RPKM 10.3) and 25 other tissues See more Orthologs mouse all
NBAS, Official Symbol NBASprovided by HGNC Official Full Name NBAS subunit of NRZ tethering complexprovided by HGNC Primary source HGNC:HGNC:15625 See related Ensembl:ENSG00000151779 MIM:608025; AllianceGenome:HGNC:15625 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 NAG; SOPH; ILFS2 Summary This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012] Expression Ubiquitous expression in testis (RPKM 10.3), thyroid (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
NBAT1, Official Symbol NBAT1provided by HGNC Official Full Name neuroblastoma associated transcript 1provided by HGNC Primary source HGNC:HGNC:49075 See related MIM:616206; AllianceGenome:HGNC:49075 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CASC14; NBAT-1 Expression Low expression observed in reference dataset See more
NBDY, Official Symbol NBDYprovided by HGNC Official Full Name negative regulator of P-body associationprovided by HGNC Primary source HGNC:HGNC:50713 See related Ensembl:ENSG00000204272 MIM:300992; AllianceGenome:HGNC:50713 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 NoBody; LINC01420 Summary Involved in negative regulation of cytoplasmic mRNA processing body assembly and nuclear-transcribed mRNA catabolic process. Located in P-body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 34.2), adrenal (RPKM 31.8) and 25 other tissues See more Orthologs all
NBEA, Official Symbol NBEAprovided by HGNC Official Full Name neurobeachinprovided by HGNC Primary source HGNC:HGNC:7648 See related Ensembl:ENSG00000172915 MIM:604889; AllianceGenome:HGNC:7648 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 BCL8B; LYST2; NEDEGE Summary This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011] Expression Broad expression in brain (RPKM 8.2), thyroid (RPKM 2.8) and 20 other tissues See more Orthologs mouse all
NBEAL1, Official Symbol NBEAL1provided by HGNC Official Full Name neurobeachin like 1provided by HGNC Primary source HGNC:HGNC:20681 See related Ensembl:ENSG00000144426 MIM:609816; AllianceGenome:HGNC:20681 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 ALS2CR16; ALS2CR17; A530083I02Rik Summary Predicted to enable protein kinase binding activity. Predicted to be involved in protein localization. Predicted to be active in cytosol and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 12.9), colon (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
NBEAL2, Official Symbol NBEAL2provided by HGNC Official Full Name neurobeachin like 2provided by HGNC Primary source HGNC:HGNC:31928 See related Ensembl:ENSG00000160796 MIM:614169; AllianceGenome:HGNC:31928 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 GPS; BDPLT4 Summary The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011] Expression Broad expression in bone marrow (RPKM 26.4), esophagus (RPKM 17.9) and 23 other tissues See more Orthologs mouse all
NBEAP2, Official Symbol NBEAP2provided by HGNC Official Full Name neurobeachin pseudogene 2provided by HGNC Primary source HGNC:HGNC:40003 See related Ensembl:ENSG00000197927 AllianceGenome:HGNC:40003 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 BCL8D
NBEAP3, Official Symbol NBEAP3provided by HGNC Official Full Name neurobeachin pseudogene 3provided by HGNC Primary source HGNC:HGNC:40004 See related AllianceGenome:HGNC:40004 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 BCL8C
NBEAP5, Official Symbol NBEAP5provided by HGNC Official Full Name neurobeachin pseudogene 5provided by HGNC Primary source HGNC:HGNC:40010 See related Ensembl:ENSG00000277710 AllianceGenome:HGNC:40010 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NBEAP6, Official Symbol NBEAP6provided by HGNC Official Full Name neurobeachin pseudogene 6provided by HGNC Primary source HGNC:HGNC:40011 See related Ensembl:ENSG00000285990 AllianceGenome:HGNC:40011 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NBL1, Official Symbol NBL1provided by HGNC Official Full Name NBL1, DAN family BMP antagonistprovided by HGNC Primary source HGNC:HGNC:7650 See related Ensembl:ENSG00000158747 MIM:600613; AllianceGenome:HGNC:7650 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 NB; DAN; NO3; DAND1; D1S1733E Summary This gene product is the founding member of the evolutionarily conserved CAN (Cerberus and DAN) family of proteins, which contain a domain resembling the CTCK (C-terminal cystine knot-like) motif found in a number of signaling molecules. These proteins are secreted, and act as BMP (bone morphogenetic protein) antagonists by binding to BMPs and preventing them from interacting with their receptors. They may thus play an important role during growth and development. Alternatively spliced transcript variants have been identified for this gene. Read-through transcripts between this locus and the upstream mitochondrial inner membrane organizing system 1 gene (GeneID 440574) have been observed. [provided by RefSeq, May 2013] Expression Broad expression in ovary (RPKM 113.9), prostate (RPKM 98.5) and 20 other tissues See more Orthologs mouse all
NBN, Official Symbol NBNprovided by HGNC Official Full Name nibrinprovided by HGNC Primary source HGNC:HGNC:7652 See related Ensembl:ENSG00000104320 MIM:602667; AllianceGenome:HGNC:7652 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 ATV; NBS; P95; NBS1; AT-V1; AT-V2 Summary Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in appendix (RPKM 14.8), thyroid (RPKM 14.2) and 25 other tissues See more Orthologs mouse all
NBPF1, Official Symbol NBPF1provided by HGNC Official Full Name NBPF member 1provided by HGNC Primary source HGNC:HGNC:26088 See related Ensembl:ENSG00000219481 MIM:610501; AllianceGenome:HGNC:26088 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 AD2; NBG; AB13; AB14; AB23; NBPF Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] Annotation information Annotation category: partial on reference assembly Expression Ubiquitous expression in testis (RPKM 28.4), ovary (RPKM 16.7) and 25 other tissues See more Orthologs all
NBPF10, Official Symbol NBPF10provided by HGNC Official Full Name NBPF member 10provided by HGNC Primary source HGNC:HGNC:31992 See related Ensembl:ENSG00000271425 MIM:614000; AllianceGenome:HGNC:31992 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 AB6; AG1; NBPF9 Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Annotation information Annotation category: suggests misassembly Expression Ubiquitous expression in fat (RPKM 18.0), skin (RPKM 17.6) and 25 other tissues See more Orthologs all
NBPF11, Official Symbol NBPF11provided by HGNC Official Full Name NBPF member 11provided by HGNC Primary source HGNC:HGNC:31993 See related Ensembl:ENSG00000263956 MIM:614001; AllianceGenome:HGNC:31993 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 NBPF24 Summary Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 15.7), ovary (RPKM 14.5) and 25 other tissues See more Orthologs all
NBPF12, Official Symbol NBPF12provided by HGNC Official Full Name NBPF member 12provided by HGNC Primary source HGNC:HGNC:24297 See related Ensembl:ENSG00000268043 MIM:608607; AllianceGenome:HGNC:24297 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 COAS1; KIAA1245 Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] Expression Ubiquitous expression in ovary (RPKM 12.2), testis (RPKM 12.2) and 25 other tissues See more Orthologs all
NBPF14, Official Symbol NBPF14provided by HGNC Official Full Name NBPF member 14provided by HGNC Primary source HGNC:HGNC:25232 See related Ensembl:ENSG00000270629 MIM:614003; AllianceGenome:HGNC:25232 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 AE5; NBPF; DJ328E19.C1.1 Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] Expression Ubiquitous expression in skin (RPKM 28.2), ovary (RPKM 24.3) and 25 other tissues See more
NBPF15, Official Symbol NBPF15provided by HGNC Official Full Name NBPF member 15provided by HGNC Primary source HGNC:HGNC:28791 See related Ensembl:ENSG00000266338 MIM:610414; AllianceGenome:HGNC:28791 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 AG3; AB14; NBPF16 Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] Expression Ubiquitous expression in skin (RPKM 18.7), lymph node (RPKM 18.0) and 25 other tissues See more Orthologs all
NBPF17P, Official Symbol NBPF17Pprovided by HGNC Official Full Name NBPF member 17, pseudogeneprovided by HGNC Primary source HGNC:HGNC:31997 See related Ensembl:ENSG00000179571 MIM:612970; AllianceGenome:HGNC:31997 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 NBPF23; NBPF23P Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2014]
NBPF19, Official Symbol NBPF19provided by HGNC Official Full Name NBPF member 19provided by HGNC Primary source HGNC:HGNC:31999 See related Ensembl:ENSG00000271383 MIM:614006; AllianceGenome:HGNC:31999 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 located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 25.0), spleen (RPKM 18.1) and 25 other tissues See more Orthologs all
NBPF20, Official Symbol NBPF20provided by HGNC Official Full Name NBPF member 20provided by HGNC Primary source HGNC:HGNC:32000 See related Ensembl:ENSG00000162825 MIM:614007; AllianceGenome:HGNC:32000 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 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in testis (RPKM 6.6), skin (RPKM 5.6) and 25 other tissues See more Orthologs all
NBPF21P, Official Symbol NBPF21Pprovided by HGNC Official Full Name NBPF member 21, pseudogeneprovided by HGNC Primary source HGNC:HGNC:32001 See related Ensembl:ENSG00000231382 AllianceGenome:HGNC:32001 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This pseudogene on chromosome 3 is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013]
NBPF26, Official Symbol NBPF26provided by HGNC Official Full Name NBPF member 26provided by HGNC Primary source HGNC:HGNC:49571 See related Ensembl:ENSG00000273136 AllianceGenome:HGNC:49571 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 NOTCH2NLR Summary Predicted to enable calcium ion binding activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 21.7), appendix (RPKM 16.7) and 25 other tissues See more Orthologs all
NBPF2P, Official Symbol NBPF2Pprovided by HGNC Official Full Name NBPF member 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:31987 See related AllianceGenome:HGNC:31987 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This pseudogene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]
NBPF3, Official Symbol NBPF3provided by HGNC Official Full Name NBPF member 3provided by HGNC Primary source HGNC:HGNC:25076 See related Ensembl:ENSG00000142794 MIM:612992; AllianceGenome:HGNC:25076 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 AE2 Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013] Expression Broad expression in testis (RPKM 10.2), thyroid (RPKM 3.5) and 23 other tissues See more Orthologs all
NBPF4, Official Symbol NBPF4provided by HGNC Official Full Name NBPF member 4provided by HGNC Primary source HGNC:HGNC:26550 See related Ensembl:ENSG00000196427 MIM:613994; AllianceGenome:HGNC:26550 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 is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013] Expression Biased expression in testis (RPKM 3.9), small intestine (RPKM 0.8) and 2 other tissues See more Orthologs all
NBPF6, Official Symbol NBPF6provided by HGNC Official Full Name NBPF member 6provided by HGNC Primary source HGNC:HGNC:31988 See related Ensembl:ENSG00000186086 MIM:613996; AllianceGenome:HGNC:31988 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 is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013] Expression Biased expression in testis (RPKM 2.4), small intestine (RPKM 0.7) and 2 other tissues See more Orthologs all
NBPF8, Official Symbol NBPF8provided by HGNC Official Full Name NBPF member 8provided by HGNC Primary source HGNC:HGNC:31990 See related Ensembl:ENSG00000270231 MIM:613998; AllianceGenome:HGNC:31990 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 NBPF8P Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] Expression Ubiquitous expression in skin (RPKM 21.3), lymph node (RPKM 19.0) and 25 other tissues See more Orthologs all