psui3905/ncbi_genes_summary huggingface dataset:
FAM95B1, Official Symbol FAM95B1provided by HGNC Official Full Name family with sequence similarity 95 member B1provided by HGNC Primary source HGNC:HGNC:32318 See related Ensembl:ENSG00000290718 AllianceGenome:HGNC:32318 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 17.6), spleen (RPKM 1.7) and 3 other tissues See more
FAM95C, Official Symbol FAM95Cprovided by HGNC Official Full Name family with sequence similarity 95 member Cprovided by HGNC Primary source HGNC:HGNC:45272 See related Ensembl:ENSG00000180071 AllianceGenome:HGNC:45272 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 bone marrow (RPKM 8.8), testis (RPKM 7.1) and 7 other tissues See more
FAM98A, Official Symbol FAM98Aprovided by HGNC Official Full Name family with sequence similarity 98 member Aprovided by HGNC Primary source HGNC:HGNC:24520 See related Ensembl:ENSG00000119812 AllianceGenome:HGNC:24520 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 protein methyltransferase activity. Involved in positive regulation of cell population proliferation; positive regulation of gene expression; and protein methylation. Predicted to be part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 38.2), brain (RPKM 16.8) and 24 other tissues See more Orthologs mouse all
FAM98B, Official Symbol FAM98Bprovided by HGNC Official Full Name family with sequence similarity 98 member Bprovided by HGNC Primary source HGNC:HGNC:26773 See related Ensembl:ENSG00000171262 MIM:616142; AllianceGenome:HGNC:26773 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 identical protein binding activity and protein methyltransferase activity. Involved in positive regulation of cell population proliferation; positive regulation of gene expression; and protein methylation. Located in cytoplasm and nucleoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 11.0), endometrium (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
FAM98C, Official Symbol FAM98Cprovided by HGNC Official Full Name family with sequence similarity 98 member Cprovided by HGNC Primary source HGNC:HGNC:27119 See related Ensembl:ENSG00000130244 AllianceGenome:HGNC:27119 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 part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 5.6), stomach (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
FAM99A, Official Symbol FAM99Aprovided by HGNC Official Full Name family with sequence similarity 99 member Aprovided by HGNC Primary source HGNC:HGNC:32368 See related Ensembl:ENSG00000205866 AllianceGenome:HGNC:32368 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in liver (RPKM 15.9) and placenta (RPKM 1.5) See more
FAM99B, Official Symbol FAM99Bprovided by HGNC Official Full Name family with sequence similarity 99 member Bprovided by HGNC Primary source HGNC:HGNC:32369 See related Ensembl:ENSG00000205865 AllianceGenome:HGNC:32369 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in liver (RPKM 12.3), placenta (RPKM 2.5) and 1 other tissue See more
FAM9A, Official Symbol FAM9Aprovided by HGNC Official Full Name family with sequence similarity 9 member Aprovided by HGNC Primary source HGNC:HGNC:18403 See related Ensembl:ENSG00000183304 MIM:300477; AllianceGenome:HGNC:18403 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 TEX39A Summary This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be a nuclear protein that is localized to the nucleolus, and has some similarity to a synaptonemal complex protein. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011] Expression Restricted expression toward testis (RPKM 1.9) See more Orthologs all
FAM9B, Official Symbol FAM9Bprovided by HGNC Official Full Name family with sequence similarity 9 member Bprovided by HGNC Primary source HGNC:HGNC:18404 See related Ensembl:ENSG00000177138 MIM:300478; AllianceGenome:HGNC:18404 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 TEX39B Summary This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011] Expression Biased expression in testis (RPKM 1.2), endometrium (RPKM 0.2) and 2 other tissues See more Orthologs all
FAM9C, Official Symbol FAM9Cprovided by HGNC Official Full Name family with sequence similarity 9 member Cprovided by HGNC Primary source HGNC:HGNC:18405 See related Ensembl:ENSG00000187268 MIM:300479; AllianceGenome:HGNC:18405 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 TEX39C Summary This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011] Expression Restricted expression toward spleen (RPKM 20.1) See more Orthologs all
FAN1, Official Symbol FAN1provided by HGNC Official Full Name FANCD2 and FANCI associated nuclease 1provided by HGNC Primary source HGNC:HGNC:29170 See related Ensembl:ENSG00000198690 MIM:613534; AllianceGenome:HGNC:29170 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 KMIN; hFAN1; MTMR15; KIAA1018 Summary This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in skin (RPKM 6.7), brain (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
FANCA, Official Symbol FANCAprovided by HGNC Official Full Name FA complementation group Aprovided by HGNC Primary source HGNC:HGNC:3582 See related Ensembl:ENSG00000187741 MIM:607139; AllianceGenome:HGNC:3582 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 FA; FA1; FAA; FAH; FA-H; FACA; FANCH Summary The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 7.2), bone marrow (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
FANCB, Official Symbol FANCBprovided by HGNC Official Full Name FA complementation group Bprovided by HGNC Primary source HGNC:HGNC:3583 See related Ensembl:ENSG00000181544 MIM:300515; AllianceGenome:HGNC:3583 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 FA2; FAB; FACB; FAAP90; FAAP95 Summary This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
FANCC, Official Symbol FANCCprovided by HGNC Official Full Name FA complementation group Cprovided by HGNC Primary source HGNC:HGNC:3584 See related Ensembl:ENSG00000158169 MIM:613899; AllianceGenome:HGNC:3584 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 FA3; FAC; FACC Summary The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 3.8), liver (RPKM 2.1) and 24 other tissues See more Orthologs mouse all
FANCD2, Official Symbol FANCD2provided by HGNC Official Full Name FA complementation group D2provided by HGNC Primary source HGNC:HGNC:3585 See related Ensembl:ENSG00000144554 MIM:613984; AllianceGenome:HGNC:3585 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 FA4; FAD; FACD; FAD2; FA-D2; FANCD Summary The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Broad expression in testis (RPKM 7.7), bone marrow (RPKM 6.2) and 20 other tissues See more Orthologs mouse all
FANCD2OS, Official Symbol FANCD2OSprovided by HGNC Official Full Name FANCD2 opposite strandprovided by HGNC Primary source HGNC:HGNC:28623 See related Ensembl:ENSG00000163705 AllianceGenome:HGNC:28623 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 C3orf24 Summary This gene encodes a conserved protein of unknown function. [provided by RefSeq, Jan 2013] Expression Biased expression in testis (RPKM 12.7), bone marrow (RPKM 0.8) and 1 other tissue See more Orthologs mouse all
FANCD2P2, Official Symbol FANCD2P2provided by HGNC Official Full Name FANCD2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44488 See related Ensembl:ENSG00000230342 AllianceGenome:HGNC:44488 Gene type pseudo RefSeq status INFERRED 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
FANCE, Official Symbol FANCEprovided by HGNC Official Full Name FA complementation group Eprovided by HGNC Primary source HGNC:HGNC:3586 See related Ensembl:ENSG00000112039 MIM:613976; AllianceGenome:HGNC:3586 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 FAE; FACE Summary The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 5.1), testis (RPKM 5.0) and 24 other tissues See more Orthologs mouse all
FANCF, Official Symbol FANCFprovided by HGNC Official Full Name FA complementation group Fprovided by HGNC Primary source HGNC:HGNC:3587 See related Ensembl:ENSG00000183161 MIM:613897; AllianceGenome:HGNC:3587 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 FAF Summary The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008] Orthologs mouse all
FANCG, Official Symbol FANCGprovided by HGNC Official Full Name FA complementation group Gprovided by HGNC Primary source HGNC:HGNC:3588 See related Ensembl:ENSG00000221829 MIM:602956; AllianceGenome:HGNC:3588 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 FAG; XRCC9 Summary The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 5.8), testis (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
FANCI, Official Symbol FANCIprovided by HGNC Official Full Name FA complementation group Iprovided by HGNC Primary source HGNC:HGNC:25568 See related Ensembl:ENSG00000140525 MIM:611360; AllianceGenome:HGNC:25568 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 KIAA1794 Summary The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 20.6), lymph node (RPKM 12.1) and 23 other tissues See more Orthologs mouse all
FANCL, Official Symbol FANCLprovided by HGNC Official Full Name FA complementation group Lprovided by HGNC Primary source HGNC:HGNC:20748 See related Ensembl:ENSG00000115392 MIM:608111; AllianceGenome:HGNC:20748 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 POG; PHF9; FAAP43 Summary This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018] Expression Ubiquitous expression in adrenal (RPKM 16.9), testis (RPKM 12.0) and 25 other tissues See more Orthologs mouse all
FANCM, Official Symbol FANCMprovided by HGNC Official Full Name FA complementation group Mprovided by HGNC Primary source HGNC:HGNC:23168 See related Ensembl:ENSG00000187790 MIM:609644; AllianceGenome:HGNC:23168 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 POF15; SPGF28; FAAP250; KIAA1596 Summary The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Broad expression in testis (RPKM 3.3), lymph node (RPKM 1.2) and 24 other tissues See more Orthologs mouse all
FANK1, Official Symbol FANK1provided by HGNC Official Full Name fibronectin type III and ankyrin repeat domains 1provided by HGNC Primary source HGNC:HGNC:23527 See related Ensembl:ENSG00000203780 MIM:611640; AllianceGenome:HGNC:23527 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 HSD13 Summary Involved in regulation of apoptotic process and regulation of transcription, DNA-templated. Located in cytosol and nucleoplasm. Colocalizes with chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 5.5), thyroid (RPKM 1.2) and 10 other tissues See more Orthologs mouse all
FANK1-AS1, Official Symbol FANK1-AS1provided by HGNC Official Full Name FANK1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43915 See related Ensembl:ENSG00000233409 AllianceGenome:HGNC:43915 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
FAP, Official Symbol FAPprovided by HGNC Official Full Name fibroblast activation protein alphaprovided by HGNC Primary source HGNC:HGNC:3590 See related Ensembl:ENSG00000078098 MIM:600403; AllianceGenome:HGNC:3590 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 FAPA; SIMP; DPPIV; FAPalpha Summary The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014] Expression Biased expression in endometrium (RPKM 7.5), gall bladder (RPKM 5.1) and 11 other tissues See more Orthologs mouse all
FAR1, Official Symbol FAR1provided by HGNC Official Full Name fatty acyl-CoA reductase 1provided by HGNC Primary source HGNC:HGNC:26222 See related Ensembl:ENSG00000197601 MIM:616107; AllianceGenome:HGNC:26222 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 CSPSD; PFCRD; MLSTD2; SDR10E1 Summary The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in esophagus (RPKM 26.7), stomach (RPKM 25.1) and 24 other tissues See more Orthologs mouse all
FAR1P1, Official Symbol FAR1P1provided by HGNC Official Full Name fatty acyl-CoA reductase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39675 See related AllianceGenome:HGNC:39675 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FAR2, Official Symbol FAR2provided by HGNC Official Full Name fatty acyl-CoA reductase 2provided by HGNC Primary source HGNC:HGNC:25531 See related Ensembl:ENSG00000064763 MIM:616156; AllianceGenome:HGNC:25531 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 MLSTD1; SDR10E2; HEL-S-81 Summary This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012] Expression Broad expression in colon (RPKM 8.7), small intestine (RPKM 5.0) and 22 other tissues See more Orthologs mouse all
FAR2P3, Official Symbol FAR2P3provided by HGNC Official Full Name fatty acyl-CoA reductase 2 pseudogene 3provided by HGNC Primary source HGNC:HGNC:49285 See related Ensembl:ENSG00000240253 AllianceGenome:HGNC:49285 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FAR2P4, Official Symbol FAR2P4provided by HGNC Official Full Name fatty acyl-CoA reductase 2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:49286 See related Ensembl:ENSG00000231431 AllianceGenome:HGNC:49286 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FARP1, Official Symbol FARP1provided by HGNC Official Full Name FERM, ARH/RhoGEF and pleckstrin domain protein 1provided by HGNC Primary source HGNC:HGNC:3591 See related Ensembl:ENSG00000152767 MIM:602654; AllianceGenome:HGNC:3591 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 CDEP; GLCC1; PLEKHC2; PPP1R75; FARP1-IT1 Summary This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] Expression Ubiquitous expression in kidney (RPKM 19.9), thyroid (RPKM 13.0) and 24 other tissues See more Orthologs mouse all
FARP2, Official Symbol FARP2provided by HGNC Official Full Name FERM, ARH/RhoGEF and pleckstrin domain protein 2provided by HGNC Primary source HGNC:HGNC:16460 See related Ensembl:ENSG00000006607 MIM:617586; AllianceGenome:HGNC:16460 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 FIR; FRG; PLEKHC3 Summary Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within Rac protein signal transduction and neuron remodeling. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.0), skin (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
FARS2, Official Symbol FARS2provided by HGNC Official Full Name phenylalanyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:21062 See related Ensembl:ENSG00000145982 MIM:611592; AllianceGenome:HGNC:21062 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 FARS1; PheRS; SPG77; COXPD14; HSPC320; mtPheRS Summary This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in thyroid (RPKM 1.7), testis (RPKM 1.6) and 25 other tissues See more Orthologs mouse all
FARSA, Official Symbol FARSAprovided by HGNC Official Full Name phenylalanyl-tRNA synthetase subunit alphaprovided by HGNC Primary source HGNC:HGNC:3592 See related Ensembl:ENSG00000179115 MIM:602918; AllianceGenome:HGNC:3592 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 FRSA; CML33; FARSL; PheHA; FARSLA; RILDBC2 Summary Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 24.2), lymph node (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
FARSA-AS1, Official Symbol FARSA-AS1provided by HGNC Official Full Name FARSA antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50479 See related Ensembl:ENSG00000266975 AllianceGenome:HGNC:50479 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FARSB, Official Symbol FARSBprovided by HGNC Official Full Name phenylalanyl-tRNA synthetase subunit betaprovided by HGNC Primary source HGNC:HGNC:17800 See related Ensembl:ENSG00000116120 MIM:609690; AllianceGenome:HGNC:17800 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 FRSB; RJBS; PheHB; PheRS; FARSLB; RILDBC; HSPC173; NEDBLLA; RILDBC1 Summary This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in brain (RPKM 8.3), testis (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
FAS, Official Symbol FASprovided by HGNC Official Full Name Fas cell surface death receptorprovided by HGNC Primary source HGNC:HGNC:11920 See related Ensembl:ENSG00000026103 MIM:134637; AllianceGenome:HGNC:11920 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 APT1; CD95; FAS1; APO-1; FASTM; ALPS1A; TNFRSF6 Summary The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011] Annotation information Note: FAS (Gene ID: 355) and FASN (Gene ID: 2194) share the FAS symbol/alias in common. FAS is a widely used alternative name for fatty acid synthase (FASN), which can be confused with the official symbol for FAS (Fas cell surface death receptor, GeneID 355). [01 Jun 2018] Expression Ubiquitous expression in colon (RPKM 4.3), lymph node (RPKM 4.0) and 24 other tissues See more Orthologs mouse all
FAS-AS1, Official Symbol FAS-AS1provided by HGNC Official Full Name FAS antisense RNA 1provided by HGNC Primary source HGNC:HGNC:37128 See related AllianceGenome:HGNC:37128 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 SAF; FASAS; FAS-AS
FASLG, Official Symbol FASLGprovided by HGNC Official Full Name Fas ligandprovided by HGNC Primary source HGNC:HGNC:11936 See related Ensembl:ENSG00000117560 MIM:134638; AllianceGenome:HGNC:11936 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 APTL; FASL; CD178; CD95L; ALPS1B; CD95-L; TNFSF6; TNLG1A; APT1LG1 Summary This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014] Expression Broad expression in lymph node (RPKM 2.5), spleen (RPKM 1.7) and 21 other tissues See more Orthologs mouse all
FASN, Official Symbol FASNprovided by HGNC Official Full Name fatty acid synthaseprovided by HGNC Primary source HGNC:HGNC:3594 See related Ensembl:ENSG00000169710 MIM:600212; AllianceGenome:HGNC:3594 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 FAS; OA-519; SDR27X1 Summary The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008] Annotation information Note: FAS (Gene ID: 355) and FASN (Gene ID: 2194) share the FAS symbol/alias in common. FAS is a widely used alternative name for fatty acid synthase (FASN), which can be confused with the official symbol for FAS (Fas cell surface death receptor, GeneID 355). [01 Jun 2018] Expression Biased expression in fat (RPKM 227.7), prostate (RPKM 28.4) and 3 other tissues See more Orthologs mouse all
FASTK, Official Symbol FASTKprovided by HGNC Official Full Name Fas activated serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:24676 See related Ensembl:ENSG00000164896 MIM:606965; AllianceGenome:HGNC:24676 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 FAST Summary The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 16.4), prostate (RPKM 16.0) and 25 other tissues See more Orthologs mouse all
FASTKD1, Official Symbol FASTKD1provided by HGNC Official Full Name FAST kinase domains 1provided by HGNC Primary source HGNC:HGNC:26150 See related Ensembl:ENSG00000138399 MIM:617529; AllianceGenome:HGNC:26150 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 RNA binding activity. Involved in mitochondrial RNA metabolic process and regulation of mitochondrial mRNA stability. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 4.3), duodenum (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
FASTKD2, Official Symbol FASTKD2provided by HGNC Official Full Name FAST kinase domains 2provided by HGNC Primary source HGNC:HGNC:29160 See related Ensembl:ENSG00000118246 MIM:612322; AllianceGenome:HGNC:29160 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 COXPD44; KIAA0971 Summary This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in thyroid (RPKM 5.2), heart (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
FASTKD3, Official Symbol FASTKD3provided by HGNC Official Full Name FAST kinase domains 3provided by HGNC Primary source HGNC:HGNC:28758 See related Ensembl:ENSG00000124279 MIM:617530; AllianceGenome:HGNC:28758 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 small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in kidney (RPKM 3.9), lymph node (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
FASTKD5, Official Symbol FASTKD5provided by HGNC Official Full Name FAST kinase domains 5provided by HGNC Primary source HGNC:HGNC:25790 See related Ensembl:ENSG00000215251 MIM:614272; AllianceGenome:HGNC:25790 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 dJ1187M17.5 Summary Enables rRNA binding activity. Involved in mitochondrial RNA processing. Located in mitochondrial nucleoid and ribonucleoprotein granule. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 15.0), adrenal (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
FAT1, Official Symbol FAT1provided by HGNC Official Full Name FAT atypical cadherin 1provided by HGNC Primary source HGNC:HGNC:3595 See related Ensembl:ENSG00000083857 MIM:600976; AllianceGenome:HGNC:3595 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 FAT; ME5; CDHF7; CDHR8; hFat1 Summary This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 17.7), kidney (RPKM 13.3) and 21 other tissues See more Orthologs mouse all
FAT1P1, Official Symbol FAT1P1provided by HGNC Official Full Name FAT atypical cadherin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:16582 See related Ensembl:ENSG00000217809 AllianceGenome:HGNC:16582 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 dJ697P8.1
FAT2, Official Symbol FAT2provided by HGNC Official Full Name FAT atypical cadherin 2provided by HGNC Primary source HGNC:HGNC:3596 See related Ensembl:ENSG00000086570 MIM:604269; AllianceGenome:HGNC:3596 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 CDHF8; CDHR9; HFAT2; MEGF1; SCA45 Summary This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 15.3), esophagus (RPKM 6.4) and 3 other tissues See more Orthologs mouse all