psui3905/ncbi_genes_summary huggingface dataset:
CFAP300, Official Symbol CFAP300provided by HGNC Official Full Name cilia and flagella associated protein 300provided by HGNC Primary source HGNC:HGNC:28188 See related Ensembl:ENSG00000137691 MIM:618058; AllianceGenome:HGNC:28188 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 FBB5; CILD38; DNAAF17; C11orf70 Summary Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 12.9), endometrium (RPKM 1.2) and 9 other tissues See more Orthologs mouse all
CFAP36, Official Symbol CFAP36provided by HGNC Official Full Name cilia and flagella associated protein 36provided by HGNC Primary source HGNC:HGNC:30540 See related Ensembl:ENSG00000163001 AllianceGenome:HGNC:30540 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 BARTL1; CCDC104 Summary Enables protein N-terminus binding activity. Located in ciliary transition zone. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 36.7), thyroid (RPKM 18.8) and 24 other tissues See more Orthologs mouse all
CFAP410, Official Symbol CFAP410provided by HGNC Official Full Name cilia and flagella associated protein 410provided by HGNC Primary source HGNC:HGNC:1260 See related Ensembl:ENSG00000160226 MIM:603191; AllianceGenome:HGNC:1260 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 RDMS; SMDAX; LRRC76; YF5/A2; C21orf2 Summary Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012] Expression Ubiquitous expression in kidney (RPKM 7.1), spleen (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
CFAP43, Official Symbol CFAP43provided by HGNC Official Full Name cilia and flagella associated protein 43provided by HGNC Primary source HGNC:HGNC:26684 See related Ensembl:ENSG00000197748 MIM:617558; AllianceGenome:HGNC:26684 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 WDR96; HYDNP1; SPGF19; C10orf79; bA373N18.2 Summary This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016] Expression Biased expression in testis (RPKM 23.1) and lung (RPKM 3.4) See more Orthologs mouse all
CFAP44, Official Symbol CFAP44provided by HGNC Official Full Name cilia and flagella associated protein 44provided by HGNC Primary source HGNC:HGNC:25631 See related Ensembl:ENSG00000206530 MIM:617559; AllianceGenome:HGNC:25631 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 WDR52; SPGF20 Summary Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Implicated in spermatogenic failure 20. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.1), skin (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
CFAP44-AS1, Official Symbol CFAP44-AS1provided by HGNC Official Full Name CFAP44 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41113 See related Ensembl:ENSG00000243849 AllianceGenome:HGNC:41113 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 WDR52-AS1 Expression Broad expression in testis (RPKM 3.3), endometrium (RPKM 0.6) and 18 other tissues See more
CFAP45, Official Symbol CFAP45provided by HGNC Official Full Name cilia and flagella associated protein 45provided by HGNC Primary source HGNC:HGNC:17229 See related Ensembl:ENSG00000213085 MIM:605152; AllianceGenome:HGNC:17229 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 HTX11; NESG1; CCDC19 Summary Enables AMP binding activity. Involved in establishment of left/right asymmetry and flagellated sperm motility. Located in 9+2 motile cilium; axoneme; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 17.3), lung (RPKM 4.0) and 1 other tissue See more Orthologs mouse all
CFAP46, Official Symbol CFAP46provided by HGNC Official Full Name cilia and flagella associated protein 46provided by HGNC Primary source HGNC:HGNC:25247 See related Ensembl:ENSG00000171811 MIM:618543; AllianceGenome:HGNC:25247 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 TTC40; C10orf92; C10orf93; C10orf123; C10orf124; bA288G11.4; bA288G11.5; bB137A17.2; bB137A17.3 Summary Predicted to be involved in axoneme assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 5.8), stomach (RPKM 0.9) and 3 other tissues See more Orthologs mouse all
CFAP47, Official Symbol CFAP47provided by HGNC Official Full Name cilia and flagella associated protein 47provided by HGNC Primary source HGNC:HGNC:26708 See related Ensembl:ENSG00000165164 MIM:301057; AllianceGenome:HGNC:26708 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 CHDC2; SPGF52; SPGFX3; CXorf22; CXorf30; CXorf59 Summary While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
CFAP52, Official Symbol CFAP52provided by HGNC Official Full Name cilia and flagella associated protein 52provided by HGNC Primary source HGNC:HGNC:16053 See related Ensembl:ENSG00000166596 MIM:609804; AllianceGenome:HGNC:16053 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 HTX10; WDR16; WDRPUH Summary WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 8.3), lung (RPKM 3.0) and 2 other tissues See more Orthologs mouse all
CFAP53, Official Symbol CFAP53provided by HGNC Official Full Name cilia and flagella associated protein 53provided by HGNC Primary source HGNC:HGNC:26530 See related Ensembl:ENSG00000172361 MIM:614759; AllianceGenome:HGNC:26530 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 HTX6; CCDC11 Summary This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015] Expression Restricted expression toward testis (RPKM 45.5) See more Orthologs mouse all
CFAP54, Official Symbol CFAP54provided by HGNC Official Full Name cilia and flagella associated protein 54provided by HGNC Primary source HGNC:HGNC:26456 See related Ensembl:ENSG00000188596 AllianceGenome:HGNC:26456 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 C12orf55; C12orf63 Summary Predicted to be involved in cilium assembly; cilium movement involved in cell motility; and spermatogenesis. Predicted to act upstream of or within cerebrospinal fluid circulation; motile cilium assembly; and mucociliary clearance. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.4), lung (RPKM 0.4) and 3 other tissues See more Orthologs mouse all
CFAP57, Official Symbol CFAP57provided by HGNC Official Full Name cilia and flagella associated protein 57provided by HGNC Primary source HGNC:HGNC:26485 See related Ensembl:ENSG00000243710 MIM:614259; AllianceGenome:HGNC:26485 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 VWS2; WDR65 Summary This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Biased expression in testis (RPKM 8.0), lung (RPKM 1.3) and 2 other tissues See more Orthologs mouse all
CFAP58, Official Symbol CFAP58provided by HGNC Official Full Name cilia and flagella associated protein 58provided by HGNC Primary source HGNC:HGNC:26676 See related Ensembl:ENSG00000120051 MIM:619129; AllianceGenome:HGNC:26676 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 SPGF49; CCDC147; C10orf80; bA127L20.4; bA127L20.5; bA554P13.1 Summary Involved in protein localization to motile cilium; sperm axoneme assembly; and sperm mitochondrial sheath assembly. Located in sperm midpiece. Implicated in spermatogenic failure 49. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.8), endometrium (RPKM 0.6) and 2 other tissues See more Orthologs mouse all
CFAP58-DT, Official Symbol CFAP58-DTprovided by HGNC Official Full Name CFAP58 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:45243 See related Ensembl:ENSG00000231233 AllianceGenome:HGNC:45243 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 CFAP58-AS1; CCDC147-AS1; lncITPRIP-1 Expression Broad expression in brain (RPKM 1.3), appendix (RPKM 0.9) and 21 other tissues See more
CFAP61, Official Symbol CFAP61provided by HGNC Official Full Name cilia and flagella associated protein 61provided by HGNC Primary source HGNC:HGNC:15872 See related Ensembl:ENSG00000089101 MIM:620381; AllianceGenome:HGNC:15872 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 SPGF84; CaM-IP3; C20orf26; dJ1002M8.3; dJ1178H5.4 Summary Predicted to be involved in cilium movement and cilium organization. Predicted to be located in axoneme and motile cilium. Predicted to colocalize with radial spoke stalk. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.3), heart (RPKM 1.5) and 2 other tissues See more Orthologs mouse all
CFAP65, Official Symbol CFAP65provided by HGNC Official Full Name cilia and flagella associated protein 65provided by HGNC Primary source HGNC:HGNC:25325 See related Ensembl:ENSG00000181378 MIM:614270; AllianceGenome:HGNC:25325 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 SPGF40; CCDC108 Summary The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016] Expression Biased expression in testis (RPKM 3.3) and lung (RPKM 1.0) See more Orthologs mouse all
CFAP69, Official Symbol CFAP69provided by HGNC Official Full Name cilia and flagella associated protein 69provided by HGNC Primary source HGNC:HGNC:26107 See related Ensembl:ENSG00000105792 MIM:617949; AllianceGenome:HGNC:26107 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 FAP69; SPGF24; C7orf63 Summary Acts upstream of or within sperm axoneme assembly. Located in cytoplasm and sperm midpiece. Implicated in spermatogenic failure 24. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in prostate (RPKM 3.6), testis (RPKM 1.8) and 20 other tissues See more Orthologs mouse all
CFAP70, Official Symbol CFAP70provided by HGNC Official Full Name cilia and flagella associated protein 70provided by HGNC Primary source HGNC:HGNC:30726 See related Ensembl:ENSG00000156042 MIM:618661; AllianceGenome:HGNC:30726 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 TTC18; SPGF41 Summary Predicted to be involved in cilium assembly and cilium movement. Located in ciliary basal body and sperm flagellum. Part of outer dynein arm. Implicated in spermatogenic failure 41. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 8.3), thyroid (RPKM 2.0) and 13 other tissues See more Orthologs mouse all
CFAP73, Official Symbol CFAP73provided by HGNC Official Full Name cilia and flagella associated protein 73provided by HGNC Primary source HGNC:HGNC:37100 See related Ensembl:ENSG00000186710 AllianceGenome:HGNC:37100 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 MIA2; CCDC42B Summary Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Predicted to be located in axonemal outer doublet and motile cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 3.5), kidney (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
CFAP74, Official Symbol CFAP74provided by HGNC Official Full Name cilia and flagella associated protein 74provided by HGNC Primary source HGNC:HGNC:29368 See related Ensembl:ENSG00000142609 MIM:620187; AllianceGenome:HGNC:29368 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 CILD49; C1orf222; KIAA1751 Summary Predicted to be involved in axoneme assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.3), lung (RPKM 0.8) and 1 other tissue See more Orthologs mouse all
CFAP77, Official Symbol CFAP77provided by HGNC Official Full Name cilia and flagella associated protein 77provided by HGNC Primary source HGNC:HGNC:33776 See related Ensembl:ENSG00000188523 AllianceGenome:HGNC:33776 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 C9orf171 Summary Predicted to be located in cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 4.9) See more Orthologs mouse all
CFAP91, Official Symbol CFAP91provided by HGNC Official Full Name cilia and flagella associated protein 91provided by HGNC Primary source HGNC:HGNC:24010 See related Ensembl:ENSG00000183833 MIM:609910; AllianceGenome:HGNC:24010 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 AAT1; MAATS1; SPGF51; C3orf15; CaM-IP2; SPATA26; AAT1alpha Summary Predicted to be involved in cilium movement. Predicted to be located in axoneme and motile cilium. Predicted to colocalize with radial spoke stalk. Implicated in spermatogenic failure 51. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 9.1), spleen (RPKM 7.0) and 13 other tissues See more Orthologs mouse all
CFAP92, Official Symbol CFAP92provided by HGNC Official Full Name cilia and flagella associated protein 92 (putative)provided by HGNC Primary source HGNC:HGNC:29231 See related Ensembl:ENSG00000114656 AllianceGenome:HGNC:29231 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 FAP92; KIAA1257 Expression Broad expression in testis (RPKM 2.9), skin (RPKM 2.2) and 24 other tissues See more Orthologs mouse all
CFAP97, Official Symbol CFAP97provided by HGNC Official Full Name cilia and flagella associated protein 97provided by HGNC Primary source HGNC:HGNC:29276 See related Ensembl:ENSG00000164323 MIM:616047; AllianceGenome:HGNC:29276 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 hmw; KIAA1430 Expression Ubiquitous expression in testis (RPKM 18.7), thyroid (RPKM 14.3) and 25 other tissues See more Orthologs mouse all
CFAP97D1, Official Symbol CFAP97D1provided by HGNC Official Full Name CFAP97 domain containing 1provided by HGNC Primary source HGNC:HGNC:37241 See related Ensembl:ENSG00000231256 MIM:619866; AllianceGenome:HGNC:37241 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 C17orf105 Summary Predicted to be involved in sperm axoneme assembly. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 11.1) See more Orthologs mouse all
CFAP97D2, Official Symbol CFAP97D2provided by HGNC Official Full Name CFAP97 domain containing 2provided by HGNC Primary source HGNC:HGNC:53789 See related Ensembl:ENSG00000283361 AllianceGenome:HGNC:53789 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 Expression Low expression observed in reference dataset See more Orthologs mouse all
CFAP97P1, Official Symbol CFAP97P1provided by HGNC Official Full Name CFAP97 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54528 See related Ensembl:ENSG00000271164 AllianceGenome:HGNC:54528 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CFAP99, Official Symbol CFAP99provided by HGNC Official Full Name cilia and flagella associated protein 99provided by HGNC Primary source HGNC:HGNC:51180 See related Ensembl:ENSG00000206113 AllianceGenome:HGNC:51180 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 motile cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 5.5), lung (RPKM 0.5) and 1 other tissue See more Orthologs mouse all
CFB, Official Symbol CFBprovided by HGNC Official Full Name complement factor Bprovided by HGNC Primary source HGNC:HGNC:1037 See related Ensembl:ENSG00000243649 MIM:138470; AllianceGenome:HGNC:1037 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 BF; FB; BFD; GBG; CFAB; CFBD; PBF2; AHUS4; FBI12; H2-Bf; ARMD14 Summary This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 870.3), gall bladder (RPKM 108.2) and 2 other tissues See more Orthologs mouse all
CFC1, Official Symbol CFC1provided by HGNC Official Full Name cryptic, EGF-CFC family member 1provided by HGNC Primary source HGNC:HGNC:18292 See related Ensembl:ENSG00000136698 MIM:605194; AllianceGenome:HGNC:18292 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 HTX2; CFC1B; DTGA2; CRYPTIC Summary This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] Expression Biased expression in stomach (RPKM 2.7), prostate (RPKM 2.2) and 3 other tissues See more Orthologs all
CFC1B, Official Symbol CFC1Bprovided by HGNC Official Full Name cryptic, EGF-CFC family member 1Bprovided by HGNC Primary source HGNC:HGNC:33983 See related Ensembl:ENSG00000152093 AllianceGenome:HGNC:33983 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable activin receptor binding activity and nodal binding activity. Predicted to be involved in several processes, including circulatory system development; determination of left/right symmetry; and nodal signaling pathway. Predicted to act upstream of or within several processes, including animal organ development; digestive tract morphogenesis; and endoderm development. Predicted to be active in cell surface and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in stomach (RPKM 4.2), prostate (RPKM 2.9) and 2 other tissues See more Orthologs all
CFD, Official Symbol CFDprovided by HGNC Official Full Name complement factor Dprovided by HGNC Primary source HGNC:HGNC:2771 See related Ensembl:ENSG00000197766 MIM:134350; AllianceGenome:HGNC:2771 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 DF; ADN; PFD; ADIPSIN Summary This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015] Expression Biased expression in fat (RPKM 584.9), colon (RPKM 88.4) and 1 other tissue See more Orthologs mouse all
CFDP1, Official Symbol CFDP1provided by HGNC Official Full Name craniofacial development protein 1provided by HGNC Primary source HGNC:HGNC:1873 See related Ensembl:ENSG00000153774 MIM:608108; AllianceGenome:HGNC:1873 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 p97; BCNT; CP27; SWC5; Yeti; CENP-29; BUCENTAUR Summary Predicted to act upstream of or within several processes, including cell adhesion; negative regulation of fibroblast apoptotic process; and regulation of cell shape. Predicted to be located in kinetochore. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 25.6), kidney (RPKM 23.5) and 25 other tissues See more Orthologs mouse all
CFH, Official Symbol CFHprovided by HGNC Official Full Name complement factor Hprovided by HGNC Primary source HGNC:HGNC:4883 See related Ensembl:ENSG00000000971 MIM:134370; AllianceGenome:HGNC:4883 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 FH; HF; HF1; HF2; HUS; FHL1; AHUS1; AMBP1; ARMD4; ARMS1; CFHL3 Summary This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011] Expression Biased expression in liver (RPKM 390.3), gall bladder (RPKM 78.0) and 9 other tissues See more Orthologs mouse all
CFHR1, Official Symbol CFHR1provided by HGNC Official Full Name complement factor H related 1provided by HGNC Primary source HGNC:HGNC:4888 See related Ensembl:ENSG00000244414 MIM:134371; AllianceGenome:HGNC:4888 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 H36; CFHL; FHR1; HFL1; HFL2; CFHL1; FHL-1; FHR-1; H36-1; H36-2; CFHL1P; CFHR1P Summary This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009] Expression Biased expression in liver (RPKM 605.6) and gall bladder (RPKM 13.9) See more Orthologs all
CFHR2, Official Symbol CFHR2provided by HGNC Official Full Name complement factor H related 2provided by HGNC Primary source HGNC:HGNC:4890 See related Ensembl:ENSG00000080910 MIM:600889; AllianceGenome:HGNC:4890 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 FHR2; HFL3; CFHL2 Summary This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015] Expression Restricted expression toward liver (RPKM 292.8) See more Orthologs all
CFHR3, Official Symbol CFHR3provided by HGNC Official Full Name complement factor H related 3provided by HGNC Primary source HGNC:HGNC:16980 See related Ensembl:ENSG00000116785 MIM:605336; AllianceGenome:HGNC:16980 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 FHR3; HLF4; CFHL3; FHR-3; DOWN16 Summary The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Restricted expression toward liver (RPKM 41.2) See more Orthologs all
CFHR4, Official Symbol CFHR4provided by HGNC Official Full Name complement factor H related 4provided by HGNC Primary source HGNC:HGNC:16979 See related Ensembl:ENSG00000134365 MIM:605337; AllianceGenome:HGNC:16979 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 FHR4; CFHL4; FHR-4 Summary This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011] Expression Restricted expression toward liver (RPKM 22.1) See more Orthologs all
CFHR5, Official Symbol CFHR5provided by HGNC Official Full Name complement factor H related 5provided by HGNC Primary source HGNC:HGNC:24668 See related Ensembl:ENSG00000134389 MIM:608593; AllianceGenome:HGNC:24668 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 FHR5; CFHL5; FHR-5; CFHR5D Summary This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010] Expression Restricted expression toward liver (RPKM 44.1) See more Orthologs all
CFI, Official Symbol CFIprovided by HGNC Official Full Name complement factor Iprovided by HGNC Primary source HGNC:HGNC:5394 See related Ensembl:ENSG00000205403 MIM:217030; AllianceGenome:HGNC:5394 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 FI; IF; KAF; AHUS3; ARMD13; C3BINA; C3b-INA Summary This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015] Expression Biased expression in liver (RPKM 171.8), kidney (RPKM 63.6) and 9 other tissues See more Orthologs mouse all
CFL1, Official Symbol CFL1provided by HGNC Official Full Name cofilin 1provided by HGNC Primary source HGNC:HGNC:1874 See related Ensembl:ENSG00000172757 MIM:601442; AllianceGenome:HGNC:1874 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 CFL; cofilin; HEL-S-15 Summary The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004] Expression Ubiquitous expression in duodenum (RPKM 413.9), colon (RPKM 411.4) and 25 other tissues See more Orthologs mouse all
CFL1P7, Official Symbol CFL1P7provided by HGNC Official Full Name cofilin 1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:39959 See related AllianceGenome:HGNC:39959 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CFL1P8, Official Symbol CFL1P8provided by HGNC Official Full Name cofilin 1 pseudogene 8provided by HGNC Primary source HGNC:HGNC:39960 See related Ensembl:ENSG00000234239 AllianceGenome:HGNC:39960 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CFL2, Official Symbol CFL2provided by HGNC Official Full Name cofilin 2provided by HGNC Primary source HGNC:HGNC:1875 See related Ensembl:ENSG00000165410 MIM:601443; AllianceGenome:HGNC:1875 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 NEM7 Summary This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Expression Broad expression in heart (RPKM 93.3), prostate (RPKM 37.0) and 21 other tissues See more Orthologs mouse all
CFLAR, Official Symbol CFLARprovided by HGNC Official Full Name CASP8 and FADD like apoptosis regulatorprovided by HGNC Primary source HGNC:HGNC:1876 See related Ensembl:ENSG00000003402 MIM:603599; AllianceGenome:HGNC:1876 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 CASH; FLIP; MRIT; CLARP; FLAME; cFLIP; Casper; FLAME1; c-FLIP; FLAME-1; I-FLICE; c-FLIPL; c-FLIPR; c-FLIPS; CASP8AP1 Summary The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in fat (RPKM 11.3), bone marrow (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
CFLAR-AS1, Official Symbol CFLAR-AS1provided by HGNC Official Full Name CFLAR antisense RNA 1provided by HGNC Primary source HGNC:HGNC:14437 See related Ensembl:ENSG00000226312 AllianceGenome:HGNC:14437 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 ALS2CR10 Expression Ubiquitous expression in appendix (RPKM 5.2), fat (RPKM 5.2) and 25 other tissues See more
CFP, Official Symbol CFPprovided by HGNC Official Full Name complement factor properdinprovided by HGNC Primary source HGNC:HGNC:8864 See related Ensembl:ENSG00000126759 MIM:300383; AllianceGenome:HGNC:8864 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 BFD; PFC; PFD; PROPERDIN Summary This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009] Expression Biased expression in spleen (RPKM 27.2), bone marrow (RPKM 22.4) and 5 other tissues See more Orthologs mouse all
CFTR, Official Symbol CFTRprovided by HGNC Official Full Name CF transmembrane conductance regulatorprovided by HGNC Primary source HGNC:HGNC:1884 See related Ensembl:ENSG00000001626 MIM:602421; AllianceGenome:HGNC:1884 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 CF; MRP7; ABC35; ABCC7; CFTR/MRP; TNR-CFTR; dJ760C5.1 Summary This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017] Expression Biased expression in gall bladder (RPKM 28.8), colon (RPKM 22.3) and 6 other tissues See more Orthologs mouse all
CFTR-AS1, Official Symbol CFTR-AS1provided by HGNC Official Full Name CFTR antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40144 See related Ensembl:ENSG00000232661 AllianceGenome:HGNC:40144 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 BGas
CFTRP2, Official Symbol CFTRP2provided by HGNC Official Full Name CFTR pseudogene 2provided by HGNC Primary source HGNC:HGNC:51351 See related Ensembl:ENSG00000282921 AllianceGenome:HGNC:51351 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CFTRP3, Official Symbol CFTRP3provided by HGNC Official Full Name CFTR pseudogene 3provided by HGNC Primary source HGNC:HGNC:51352 See related Ensembl:ENSG00000204555 AllianceGenome:HGNC:51352 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CGA, Official Symbol CGAprovided by HGNC Official Full Name glycoprotein hormones, alpha polypeptideprovided by HGNC Primary source HGNC:HGNC:1885 See related Ensembl:ENSG00000135346 MIM:118850; AllianceGenome:HGNC:1885 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 HCG; LHA; FSHA; GPA1; GPHa; TSHA; GPHA1; CG-ALPHA Summary The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Expression Restricted expression toward placenta (RPKM 388.3) See more Orthologs mouse all
CGAS, Official Symbol CGASprovided by HGNC Official Full Name cyclic GMP-AMP synthaseprovided by HGNC Primary source HGNC:HGNC:21367 See related Ensembl:ENSG00000164430 MIM:613973; AllianceGenome:HGNC:21367 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 D4; MB21D1; h-cGAS; C6orf150 Summary Enables several functions, including 2',3'-cyclic GMP-AMP synthase activity; chromatin binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including cellular response to exogenous dsRNA; positive regulation of intracellular signal transduction; and regulation of defense response. Located in several cellular components, including cytosol; nucleus; and site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 4.9), lymph node (RPKM 3.8) and 24 other tissues See more Orthologs mouse all