psui3905/ncbi_genes_summary huggingface dataset:
ANKRD27, Official Symbol ANKRD27provided by HGNC Official Full Name ankyrin repeat domain 27provided by HGNC Primary source HGNC:HGNC:25310 See related Ensembl:ENSG00000105186 MIM:618957; AllianceGenome:HGNC:25310 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 VARP; PP12899 Summary Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in endocytic recycling and negative regulation of SNARE complex assembly. Acts upstream of or within early endosome to late endosome transport. Located in endosome; lysosome; and plasma membrane. Implicated in eosinophilic esophagitis. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.4), thyroid (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
ANKRD28, Official Symbol ANKRD28provided by HGNC Official Full Name ankyrin repeat domain 28provided by HGNC Primary source HGNC:HGNC:29024 See related Ensembl:ENSG00000206560 MIM:611122; AllianceGenome:HGNC:29024 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 PITK; FAP79; CFAP79; PPP1R65 Summary Predicted to be located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 14.3), testis (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
ANKRD29, Official Symbol ANKRD29provided by HGNC Official Full Name ankyrin repeat domain 29provided by HGNC Primary source HGNC:HGNC:27110 See related Ensembl:ENSG00000154065 AllianceGenome:HGNC:27110 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 9.3), lymph node (RPKM 4.6) and 17 other tissues See more Orthologs mouse all
ANKRD30A, Official Symbol ANKRD30Aprovided by HGNC Official Full Name ankyrin repeat domain 30Aprovided by HGNC Primary source HGNC:HGNC:17234 See related Ensembl:ENSG00000148513 MIM:610856; AllianceGenome:HGNC:17234 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 NY-BR-1 Summary This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016] Expression Biased expression in testis (RPKM 1.1) and fat (RPKM 0.7) See more Orthologs all
ANKRD30B, Official Symbol ANKRD30Bprovided by HGNC Official Full Name ankyrin repeat domain 30Bprovided by HGNC Primary source HGNC:HGNC:24165 See related Ensembl:ENSG00000180777 MIM:616565; AllianceGenome:HGNC:24165 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 NY-BR-1.1 Expression Restricted expression toward testis (RPKM 7.9) See more Orthologs all
ANKRD30BL, Official Symbol ANKRD30BLprovided by HGNC Official Full Name ankyrin repeat domain 30B likeprovided by HGNC Primary source HGNC:HGNC:35167 See related Ensembl:ENSG00000163046 AllianceGenome:HGNC:35167 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 ANKRD30BP3; NCRNA00164 Expression Restricted expression toward testis (RPKM 7.1) See more Orthologs all
ANKRD30BP1, Official Symbol ANKRD30BP1provided by HGNC Official Full Name ankyrin repeat domain 30B pseudogene 1provided by HGNC Primary source HGNC:HGNC:19722 See related Ensembl:ENSG00000175302 AllianceGenome:HGNC:19722 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 PRED4; ANKRD30BP; C21orf110
ANKRD31, Official Symbol ANKRD31provided by HGNC Official Full Name ankyrin repeat domain 31provided by HGNC Primary source HGNC:HGNC:26853 See related Ensembl:ENSG00000145700 MIM:618423; AllianceGenome:HGNC:26853 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 protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017] Expression Biased expression in testis (RPKM 3.8) and esophagus (RPKM 0.4) See more Orthologs mouse all
ANKRD33, Official Symbol ANKRD33provided by HGNC Official Full Name ankyrin repeat domain 33provided by HGNC Primary source HGNC:HGNC:13788 See related Ensembl:ENSG00000167612 AllianceGenome:HGNC:13788 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 PANKY; C12orf7 Summary Predicted to be involved in negative regulation of transcription by RNA polymerase II and negative regulation of transcription regulatory region DNA binding activity. Predicted to act upstream of or within skeletal muscle cell differentiation. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in placenta (RPKM 1.3) and testis (RPKM 0.1) See more Orthologs mouse all
ANKRD33B, Official Symbol ANKRD33Bprovided by HGNC Official Full Name ankyrin repeat domain 33Bprovided by HGNC Primary source HGNC:HGNC:35240 See related Ensembl:ENSG00000164236 AllianceGenome:HGNC:35240 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 Broad expression in brain (RPKM 5.5), kidney (RPKM 5.1) and 20 other tissues See more Orthologs mouse all
ANKRD34A, Official Symbol ANKRD34Aprovided by HGNC Official Full Name ankyrin repeat domain 34Aprovided by HGNC Primary source HGNC:HGNC:27639 See related Ensembl:ENSG00000272031 AllianceGenome:HGNC:27639 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 ANKRD34 Expression Biased expression in brain (RPKM 4.5), prostate (RPKM 0.7) and 13 other tissues See more Orthologs mouse all
ANKRD34B, Official Symbol ANKRD34Bprovided by HGNC Official Full Name ankyrin repeat domain 34Bprovided by HGNC Primary source HGNC:HGNC:33736 See related Ensembl:ENSG00000189127 MIM:618581; AllianceGenome:HGNC:33736 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 DP58 Summary Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
ANKRD34C, Official Symbol ANKRD34Cprovided by HGNC Official Full Name ankyrin repeat domain 34Cprovided by HGNC Primary source HGNC:HGNC:33888 See related Ensembl:ENSG00000235711 AllianceGenome:HGNC:33888 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
ANKRD34C-AS1, Official Symbol ANKRD34C-AS1provided by HGNC Official Full Name ANKRD34C antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48618 See related Ensembl:ENSG00000259234 AllianceGenome:HGNC:48618 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
ANKRD35, Official Symbol ANKRD35provided by HGNC Official Full Name ankyrin repeat domain 35provided by HGNC Primary source HGNC:HGNC:26323 See related Ensembl:ENSG00000198483 AllianceGenome:HGNC:26323 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 Biased expression in skin (RPKM 27.5), esophagus (RPKM 8.5) and 5 other tissues See more Orthologs mouse all
ANKRD36, Official Symbol ANKRD36provided by HGNC Official Full Name ankyrin repeat domain 36provided by HGNC Primary source HGNC:HGNC:24079 See related Ensembl:ENSG00000135976 MIM:620262; AllianceGenome:HGNC:24079 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 UNQ2430 Expression Broad expression in bone marrow (RPKM 5.4), testis (RPKM 4.4) and 24 other tissues See more Orthologs all
ANKRD36B, Official Symbol ANKRD36Bprovided by HGNC Official Full Name ankyrin repeat domain 36Bprovided by HGNC Primary source HGNC:HGNC:29333 See related Ensembl:ENSG00000196912 AllianceGenome:HGNC:29333 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 KIAA1641 Summary Enables identical protein binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 3.8), testis (RPKM 3.0) and 24 other tissues See more Orthologs all
ANKRD36BP1, Official Symbol ANKRD36BP1provided by HGNC Official Full Name ankyrin repeat domain 36B pseudogene 1provided by HGNC Primary source HGNC:HGNC:28169 See related Ensembl:ENSG00000214262 AllianceGenome:HGNC:28169 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ANKRD26L1; ANKRD36BL1
ANKRD36C, Official Symbol ANKRD36Cprovided by HGNC Official Full Name ankyrin repeat domain 36Cprovided by HGNC Primary source HGNC:HGNC:32946 See related Ensembl:ENSG00000174501 AllianceGenome:HGNC:32946 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 Broad expression in testis (RPKM 4.6), bone marrow (RPKM 4.1) and 23 other tissues See more Orthologs all
ANKRD37, Official Symbol ANKRD37provided by HGNC Official Full Name ankyrin repeat domain 37provided by HGNC Primary source HGNC:HGNC:29593 See related Ensembl:ENSG00000186352 MIM:619021; AllianceGenome:HGNC:29593 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 Lrp2bp Summary Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 19.3), prostate (RPKM 17.2) and 25 other tissues See more Orthologs mouse all
ANKRD39, Official Symbol ANKRD39provided by HGNC Official Full Name ankyrin repeat domain 39provided by HGNC Primary source HGNC:HGNC:28640 See related Ensembl:ENSG00000213337 AllianceGenome:HGNC:28640 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 contribute to ubiquitin-protein transferase activity. Predicted to be involved in protein K6-linked ubiquitination. Predicted to be part of BRCA1-A complex and BRCA1-BARD1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 6.7), adrenal (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
ANKRD40, Official Symbol ANKRD40provided by HGNC Official Full Name ankyrin repeat domain 40provided by HGNC Primary source HGNC:HGNC:28233 See related Ensembl:ENSG00000154945 AllianceGenome:HGNC:28233 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 Ubiquitous expression in fat (RPKM 27.4), brain (RPKM 23.1) and 25 other tissues See more Orthologs mouse all
ANKRD40CL, Official Symbol ANKRD40CLprovided by HGNC Official Full Name ANKRD40 C-terminal likeprovided by HGNC Primary source HGNC:HGNC:26080 See related Ensembl:ENSG00000167117 AllianceGenome:HGNC:26080 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 C17orf73; LINC00483 Expression Biased expression in small intestine (RPKM 28.5), duodenum (RPKM 28.1) and 1 other tissue See more Orthologs mouse all
ANKRD42, Official Symbol ANKRD42provided by HGNC Official Full Name ankyrin repeat domain 42provided by HGNC Primary source HGNC:HGNC:26752 See related Ensembl:ENSG00000137494 MIM:619778; AllianceGenome:HGNC:26752 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 SARP; PPP1R79 Summary Predicted to enable NF-kappaB binding activity. Predicted to act upstream of or within positive regulation of NF-kappaB transcription factor activity and positive regulation of cytokine production involved in inflammatory response. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 10.9), thyroid (RPKM 3.7) and 24 other tissues See more Orthologs mouse all
ANKRD44, Official Symbol ANKRD44provided by HGNC Official Full Name ankyrin repeat domain 44provided by HGNC Primary source HGNC:HGNC:25259 See related Ensembl:ENSG00000065413 AllianceGenome:HGNC:25259 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 PP6-ARS-B Expression Broad expression in lymph node (RPKM 12.0), appendix (RPKM 9.6) and 23 other tissues See more Orthologs mouse all
ANKRD44-AS1, Official Symbol ANKRD44-AS1provided by HGNC Official Full Name ANKRD44 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41090 See related Ensembl:ENSG00000231621 AllianceGenome:HGNC:41090 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 lymph node (RPKM 2.4), lung (RPKM 2.1) and 9 other tissues See more
ANKRD44-IT1, Official Symbol ANKRD44-IT1provided by HGNC Official Full Name ANKRD44 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41477 See related Ensembl:ENSG00000236977 AllianceGenome:HGNC:41477 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
ANKRD45, Official Symbol ANKRD45provided by HGNC Official Full Name ankyrin repeat domain 45provided by HGNC Primary source HGNC:HGNC:24786 See related Ensembl:ENSG00000183831 MIM:618712; AllianceGenome:HGNC:24786 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 CT117 Expression Biased expression in testis (RPKM 3.3), brain (RPKM 0.8) and 5 other tissues See more Orthologs mouse all
ANKRD46, Official Symbol ANKRD46provided by HGNC Official Full Name ankyrin repeat domain 46provided by HGNC Primary source HGNC:HGNC:27229 See related Ensembl:ENSG00000186106 AllianceGenome:HGNC:27229 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 ANK-S; GENX-115279 Summary This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in brain (RPKM 15.9), adrenal (RPKM 13.4) and 24 other tissues See more Orthologs mouse all
ANKRD49, Official Symbol ANKRD49provided by HGNC Official Full Name ankyrin repeat domain 49provided by HGNC Primary source HGNC:HGNC:25970 See related Ensembl:ENSG00000168876 MIM:619571; AllianceGenome:HGNC:25970 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 FGIF; GBIF Summary Involved in positive regulation of transcription, DNA-templated. Predicted to be located in nucleus. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 11.3), bone marrow (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
ANKRD49P2, Official Symbol ANKRD49P2provided by HGNC Official Full Name ANKRD49 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54620 See related Ensembl:ENSG00000225349 AllianceGenome:HGNC:54620 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ANKRD49P3, Official Symbol ANKRD49P3provided by HGNC Official Full Name ANKRD49 pseudogene 3provided by HGNC Primary source HGNC:HGNC:54621 See related AllianceGenome:HGNC:54621 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ANKRD49P4, Official Symbol ANKRD49P4provided by HGNC Official Full Name ANKRD49 pseudogene 4provided by HGNC Primary source HGNC:HGNC:54622 See related AllianceGenome:HGNC:54622 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ANKRD50, Official Symbol ANKRD50provided by HGNC Official Full Name ankyrin repeat domain containing 50provided by HGNC Primary source HGNC:HGNC:29223 See related Ensembl:ENSG00000151458 MIM:619856; AllianceGenome:HGNC:29223 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 Involved in endocytic recycling. Predicted to be located in endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.1), urinary bladder (RPKM 8.9) and 24 other tissues See more Orthologs mouse all
ANKRD52, Official Symbol ANKRD52provided by HGNC Official Full Name ankyrin repeat domain 52provided by HGNC Primary source HGNC:HGNC:26614 See related Ensembl:ENSG00000139645 AllianceGenome:HGNC:26614 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 ANKRD33 Expression Ubiquitous expression in brain (RPKM 7.6), adrenal (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
ANKRD53, Official Symbol ANKRD53provided by HGNC Official Full Name ankyrin repeat domain 53provided by HGNC Primary source HGNC:HGNC:25691 See related Ensembl:ENSG00000144031 MIM:617009; AllianceGenome:HGNC:25691 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 Involved in mitotic metaphase plate congression; regulation of microtubule cytoskeleton organization; and regulation of mitotic cytokinesis. Located in spindle pole. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 4.2), fat (RPKM 1.4) and 11 other tissues See more Orthologs mouse all
ANKRD54, Official Symbol ANKRD54provided by HGNC Official Full Name ankyrin repeat domain 54provided by HGNC Primary source HGNC:HGNC:25185 See related Ensembl:ENSG00000100124 MIM:613383; AllianceGenome:HGNC:25185 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 LIAR Summary Predicted to enable protein kinase regulator activity. Predicted to be involved in positive regulation of erythrocyte differentiation; regulation of intracellular signal transduction; and regulation of protein kinase activity. Predicted to act upstream of or within nucleocytoplasmic transport. Predicted to be located in midbody. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.1), ovary (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
ANKRD55, Official Symbol ANKRD55provided by HGNC Official Full Name ankyrin repeat domain 55provided by HGNC Primary source HGNC:HGNC:25681 See related Ensembl:ENSG00000164512 MIM:615189; AllianceGenome:HGNC:25681 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 Biased expression in testis (RPKM 1.8), lymph node (RPKM 0.8) and 10 other tissues See more Orthologs mouse all
ANKRD6, Official Symbol ANKRD6provided by HGNC Official Full Name ankyrin repeat domain 6provided by HGNC Primary source HGNC:HGNC:17280 See related Ensembl:ENSG00000135299 MIM:610583; AllianceGenome:HGNC:17280 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 involved in negative regulation of canonical Wnt signaling pathway and positive regulation of JNK cascade. Predicted to act upstream of or within positive regulation of Wnt signaling pathway, planar cell polarity pathway. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 8.1), ovary (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
ANKRD60, Official Symbol ANKRD60provided by HGNC Official Full Name ankyrin repeat domain 60provided by HGNC Primary source HGNC:HGNC:16217 See related Ensembl:ENSG00000124227 AllianceGenome:HGNC:16217 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 C20orf86; bA196N14.3 Expression Low expression observed in reference dataset See more Orthologs mouse all
ANKRD61, Official Symbol ANKRD61provided by HGNC Official Full Name ankyrin repeat domain 61provided by HGNC Primary source HGNC:HGNC:22467 See related Ensembl:ENSG00000157999 AllianceGenome:HGNC:22467 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 Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 3.5), bone marrow (RPKM 1.7) and 12 other tissues See more Orthologs mouse all
ANKRD62, Official Symbol ANKRD62provided by HGNC Official Full Name ankyrin repeat domain 62provided by HGNC Primary source HGNC:HGNC:35241 See related Ensembl:ENSG00000181626 AllianceGenome:HGNC:35241 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 DKFZp779B1634 Expression Low expression observed in reference dataset See more Orthologs all
ANKRD62P1, Official Symbol ANKRD62P1provided by HGNC Official Full Name ankyrin repeat domain 62 pseudogene 1provided by HGNC Primary source HGNC:HGNC:42363 See related Ensembl:ENSG00000259271 AllianceGenome:HGNC:42363 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ANKRD63, Official Symbol ANKRD63provided by HGNC Official Full Name ankyrin repeat domain 63provided by HGNC Primary source HGNC:HGNC:40027 See related Ensembl:ENSG00000230778 AllianceGenome:HGNC:40027 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 Orthologs mouse all
ANKRD65, Official Symbol ANKRD65provided by HGNC Official Full Name ankyrin repeat domain 65provided by HGNC Primary source HGNC:HGNC:42950 See related Ensembl:ENSG00000235098 AllianceGenome:HGNC:42950 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 Broad expression in lung (RPKM 2.8), urinary bladder (RPKM 2.8) and 23 other tissues See more Orthologs mouse all
ANKRD66, Official Symbol ANKRD66provided by HGNC Official Full Name ankyrin repeat domain 66provided by HGNC Primary source HGNC:HGNC:44669 See related Ensembl:ENSG00000230062 AllianceGenome:HGNC:44669 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
ANKRD7, Official Symbol ANKRD7provided by HGNC Official Full Name ankyrin repeat domain 7provided by HGNC Primary source HGNC:HGNC:18588 See related Ensembl:ENSG00000106013 MIM:610731; AllianceGenome:HGNC:18588 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 TSA806 Summary Predicted to act upstream of or within blastocyst hatching. Located in centrosome and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 443.3) See more Orthologs mouse all
ANKRD9, Official Symbol ANKRD9provided by HGNC Official Full Name ankyrin repeat domain 9provided by HGNC Primary source HGNC:HGNC:20096 See related Ensembl:ENSG00000156381 MIM:618605; AllianceGenome:HGNC:20096 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables ubiquitin ligase-substrate adaptor activity. Involved in cellular copper ion homeostasis; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Located in cytoplasmic vesicle and cytosol. Part of Cul5-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in duodenum (RPKM 15.4), small intestine (RPKM 11.1) and 22 other tissues See more Orthologs mouse all
ANKS1A, Official Symbol ANKS1Aprovided by HGNC Official Full Name ankyrin repeat and sterile alpha motif domain containing 1Aprovided by HGNC Primary source HGNC:HGNC:20961 See related Ensembl:ENSG00000064999 MIM:608994; AllianceGenome:HGNC:20961 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 ANKS1 Summary Predicted to enable ephrin receptor binding activity. Predicted to be involved in ephrin receptor signaling pathway; neuron remodeling; and substrate-dependent cell migration. Predicted to act upstream of or within negative regulation of ubiquitin-dependent protein catabolic process and regulation of ephrin receptor signaling pathway. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 8.5), testis (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
ANKS1B, Official Symbol ANKS1Bprovided by HGNC Official Full Name ankyrin repeat and sterile alpha motif domain containing 1Bprovided by HGNC Primary source HGNC:HGNC:24600 See related Ensembl:ENSG00000185046 MIM:607815; AllianceGenome:HGNC:24600 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 EB1; AIDA; EB-1; ANKS2; AIDA-1; cajalin-2 Summary This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011] Expression Broad expression in brain (RPKM 8.0), thyroid (RPKM 1.1) and 21 other tissues See more Orthologs mouse all
ANKS3, Official Symbol ANKS3provided by HGNC Official Full Name ankyrin repeat and sterile alpha motif domain containing 3provided by HGNC Primary source HGNC:HGNC:29422 See related Ensembl:ENSG00000168096 MIM:617310; AllianceGenome:HGNC:29422 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 3.4), kidney (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
ANKS4B, Official Symbol ANKS4Bprovided by HGNC Official Full Name ankyrin repeat and sterile alpha motif domain containing 4Bprovided by HGNC Primary source HGNC:HGNC:26795 See related Ensembl:ENSG00000175311 MIM:609901; AllianceGenome:HGNC:26795 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 HARP Summary Involved in brush border assembly; cellular protein-containing complex assembly; and protein localization to microvillus. Located in brush border and microvillus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in small intestine (RPKM 15.8), duodenum (RPKM 11.5) and 6 other tissues See more Orthologs mouse all
ANKS6, Official Symbol ANKS6provided by HGNC Official Full Name ankyrin repeat and sterile alpha motif domain containing 6provided by HGNC Primary source HGNC:HGNC:26724 See related Ensembl:ENSG00000165138 MIM:615370; AllianceGenome:HGNC:26724 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 PKDR1; SAMD6; NPHP16; ANKRD14 Summary This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015] Expression Ubiquitous expression in thyroid (RPKM 4.5), kidney (RPKM 2.8) and 24 other tissues See more Orthologs mouse all
ANKUB1, Official Symbol ANKUB1provided by HGNC Official Full Name ankyrin repeat and ubiquitin domain containing 1provided by HGNC Primary source HGNC:HGNC:29642 See related Ensembl:ENSG00000206199 AllianceGenome:HGNC:29642 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 C3orf16 Expression Low expression observed in reference dataset See more Orthologs mouse all
ANKZF1, Official Symbol ANKZF1provided by HGNC Official Full Name ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1provided by HGNC Primary source HGNC:HGNC:25527 See related Ensembl:ENSG00000163516 MIM:617541; AllianceGenome:HGNC:25527 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 Vms1; ZNF744 Summary Predicted to enable metal ion binding activity. Involved in cellular response to hydrogen peroxide. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 19.0), spleen (RPKM 18.7) and 25 other tissues See more Orthologs mouse all
ANLN, Official Symbol ANLNprovided by HGNC Official Full Name anillin, actin binding proteinprovided by HGNC Primary source HGNC:HGNC:14082 See related Ensembl:ENSG00000011426 MIM:616027; AllianceGenome:HGNC:14082 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 scra; FSGS8; Scraps Summary This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] Expression Biased expression in brain (RPKM 30.2), bone marrow (RPKM 11.3) and 11 other tissues See more Orthologs mouse all
ANO1, Official Symbol ANO1provided by HGNC Official Full Name anoctamin 1provided by HGNC Primary source HGNC:HGNC:21625 See related Ensembl:ENSG00000131620 MIM:610108; AllianceGenome:HGNC:21625 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 DOG1; INDMS; TAOS2; ORAOV2; TMEM16A Summary Enables calcium activated cation channel activity; intracellular calcium activated chloride channel activity; and iodide transmembrane transporter activity. Involved in cation transport; inorganic anion transport; and positive regulation of insulin secretion involved in cellular response to glucose stimulus. Located in apical plasma membrane and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 23.9), salivary gland (RPKM 22.1) and 16 other tissues See more Orthologs mouse all
ANO10, Official Symbol ANO10provided by HGNC Official Full Name anoctamin 10provided by HGNC Primary source HGNC:HGNC:25519 See related Ensembl:ENSG00000160746 MIM:613726; AllianceGenome:HGNC:25519 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 SCAR10; TMEM16K Summary The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in duodenum (RPKM 19.4), small intestine (RPKM 16.9) and 25 other tissues See more Orthologs mouse all
ANO2, Official Symbol ANO2provided by HGNC Official Full Name anoctamin 2provided by HGNC Primary source HGNC:HGNC:1183 See related Ensembl:ENSG00000047617 MIM:610109; AllianceGenome:HGNC:1183 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 C12orf3; TMEM16B Summary ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
ANO3, Official Symbol ANO3provided by HGNC Official Full Name anoctamin 3provided by HGNC Primary source HGNC:HGNC:14004 See related Ensembl:ENSG00000134343 MIM:610110; AllianceGenome:HGNC:14004 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 DYT23; DYT24; TMEM16C; C11orf25; GENX-3947 Summary The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Expression Biased expression in brain (RPKM 4.4), fat (RPKM 2.2) and 7 other tissues See more Orthologs mouse all
ANO3-AS1, Official Symbol ANO3-AS1provided by HGNC Official Full Name ANO3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54190 See related AllianceGenome:HGNC:54190 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
ANO4, Official Symbol ANO4provided by HGNC Official Full Name anoctamin 4provided by HGNC Primary source HGNC:HGNC:23837 See related Ensembl:ENSG00000151572 MIM:610111; AllianceGenome:HGNC:23837 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 TMEM16D Summary Enables intracellular calcium activated chloride channel activity. Involved in chloride transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 3.2), brain (RPKM 1.6) and 5 other tissues See more Orthologs mouse all
ANO5, Official Symbol ANO5provided by HGNC Official Full Name anoctamin 5provided by HGNC Primary source HGNC:HGNC:27337 See related Ensembl:ENSG00000171714 MIM:608662; AllianceGenome:HGNC:27337 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 GDD1; LGMD2L; LGMDR12; TMEM16E Summary This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] Expression Broad expression in heart (RPKM 10.4), brain (RPKM 3.4) and 19 other tissues See more Orthologs mouse all
ANO6, Official Symbol ANO6provided by HGNC Official Full Name anoctamin 6provided by HGNC Primary source HGNC:HGNC:25240 See related Ensembl:ENSG00000177119 MIM:608663; AllianceGenome:HGNC:25240 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 SCTS; BDPLT7; TMEM16F Summary This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] Expression Ubiquitous expression in fat (RPKM 53.4), ovary (RPKM 24.6) and 25 other tissues See more Orthologs mouse all
ANO7, Official Symbol ANO7provided by HGNC Official Full Name anoctamin 7provided by HGNC Primary source HGNC:HGNC:31677 See related Ensembl:ENSG00000146205 MIM:605096; AllianceGenome:HGNC:31677 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 NGEP; DTMPP; IPCA5; D-TMPP; IPCA-5; PCANAP5; TMEM16G; PCANAP5L Summary This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011] Expression Biased expression in prostate (RPKM 34.0), stomach (RPKM 8.3) and 3 other tissues See more Orthologs mouse all
ANO8, Official Symbol ANO8provided by HGNC Official Full Name anoctamin 8provided by HGNC Primary source HGNC:HGNC:29329 See related Ensembl:ENSG00000074855 MIM:610216; AllianceGenome:HGNC:29329 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 TMEM16H; KIAA1623 Summary Enables intracellular calcium activated chloride channel activity. Involved in chloride transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 8.2), skin (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
ANO9, Official Symbol ANO9provided by HGNC Official Full Name anoctamin 9provided by HGNC Primary source HGNC:HGNC:20679 See related Ensembl:ENSG00000185101 MIM:619963; AllianceGenome:HGNC:20679 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 PIG5; TP53I5; TMEM16J Summary The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016] Expression Broad expression in skin (RPKM 19.3), duodenum (RPKM 19.0) and 14 other tissues See more Orthologs mouse all