ENSG00000134343


Homo sapiens

Features
Gene ID: ENSG00000134343
  
Biological name :ANO3
  
Synonyms : ANO3 / anoctamin 3 / Q9BYT9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p14.2
Gene start: 26309599
Gene end: 26663288
  
Corresponding Affymetrix probe sets: 215241_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000432576
Ensembl peptide - ENSP00000435275
Ensembl peptide - ENSP00000256737
Ensembl peptide - ENSP00000432394
NCBI entrez gene - 63982     See in Manteia.
OMIM - 610110
RefSeq - XM_017018119
RefSeq - NM_001313726
RefSeq - NM_001313727
RefSeq - NM_031418
RefSeq - XM_017018118
RefSeq Peptide - NP_001300655
RefSeq Peptide - NP_001300656
RefSeq Peptide - NP_113606
swissprot - E9PQ79
swissprot - Q9BYT9
swissprot - E9PKW2
Ensembl - ENSG00000134343
  
Related genetic diseases (OMIM): 615034 - Dystonia 24, 615034
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01088346.1ENSDARG00000099362Danio rerio
 ANO3ENSGALG00000013311Gallus gallus
 Ano3ENSMUSG00000074968Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ANO4 / Q32M45 / anoctamin 4ENSG0000015157261
ANO5 / Q75V66 / anoctamin 5ENSG0000017171438
ANO2 / Q9NQ90 / anoctamin 2ENSG0000004761738
ANO6 / Q4KMQ2 / anoctamin 6ENSG0000017711938
ANO1 / Q5XXA6 / anoctamin 1ENSG0000013162037
ANO7 / Q6IWH7 / anoctamin 7ENSG0000014620533
ANO9 / A1A5B4 / anoctamin 9ENSG0000018510130
ANO8 / Q9HCE9 / anoctamin 8ENSG0000007485518
ANO10 / Q9NW15 / anoctamin 10ENSG0000016074616


Protein motifs (from Interpro)
Interpro ID Name
 IPR007632  Anoctamin
 IPR031292  Anoctamin-3
 IPR032394  Anoctamin, dimerisation domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0016048 detection of temperature stimulus IEA
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0050982 detection of mechanical stimulus IEA
 biological_processGO:0061588 calcium activated phospholipid scrambling IEA
 biological_processGO:0061590 calcium activated phosphatidylcholine scrambling IEA
 biological_processGO:0061591 calcium activated galactosylceramide scrambling IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005229 intracellular calcium activated chloride channel activity TAS
 molecular_functionGO:0017128 phospholipid scramblase activity IEA
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000473 Torticollis 
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 HP:0000643 Blepharospasm "An involuntary recurrent spasm of both eyelids." [HPO:curators]
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 HP:0002346 Head tremor 
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 HP:0003829 Incomplete penetrance 
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 HP:0012048 Oromandibular dystonia "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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