ENSG00000177119


Homo sapiens

Features
Gene ID: ENSG00000177119
  
Biological name :ANO6
  
Synonyms : ANO6 / anoctamin 6 / Q4KMQ2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q12
Gene start: 45215987
Gene end: 45440404
  
Corresponding Affymetrix probe sets: 224906_at (Human Genome U133 Plus 2.0 Array)   240947_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000391417
Ensembl peptide - ENSP00000413137
Ensembl peptide - ENSP00000449423
Ensembl peptide - ENSP00000320087
Ensembl peptide - ENSP00000409126
NCBI entrez gene - 196527     See in Manteia.
OMIM - 608663
RefSeq - XM_005268707
RefSeq - NM_001025356
RefSeq - NM_001142678
RefSeq - NM_001142679
RefSeq - NM_001204803
RefSeq - XM_005268706
RefSeq Peptide - NP_001136150
RefSeq Peptide - NP_001136151
RefSeq Peptide - NP_001191732
RefSeq Peptide - NP_001020527
swissprot - Q4KMQ2
swissprot - F8VX71
Ensembl - ENSG00000177119
  
Related genetic diseases (OMIM): 262890 - Scott syndrome, 262890
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
 ano6ENSDARG00000061544Danio rerio
 ANO6ENSGALG00000009638Gallus gallus
 Ano6ENSMUSG00000064210Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ANO5 / Q75V66 / anoctamin 5ENSG0000017171447
ANO4 / Q32M45 / anoctamin 4ENSG0000015157243
ANO3 / Q9BYT9 / anoctamin 3ENSG0000013434340
ANO2 / Q9NQ90 / anoctamin 2ENSG0000004761735
ANO1 / Q5XXA6 / anoctamin 1ENSG0000013162035
ANO7 / Q6IWH7 / anoctamin 7ENSG0000014620533
ANO9 / A1A5B4 / anoctamin 9ENSG0000018510127
ANO8 / Q9HCE9 / anoctamin 8ENSG0000007485520
ANO10 / Q9NW15 / anoctamin 10ENSG0000016074618


Protein motifs (from Interpro)
Interpro ID Name
 IPR007632  Anoctamin
 IPR031295  Anoctamin-6
 IPR032394  Anoctamin, dimerisation domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002407 dendritic cell chemotaxis IEA
 biological_processGO:0002543 activation of blood coagulation via clotting cascade IMP
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006812 cation transport IDA
 biological_processGO:0006821 chloride transport IMP
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0007596 blood coagulation ISS
 biological_processGO:0017121 phospholipid scrambling ISS
 biological_processGO:0030501 positive regulation of bone mineralization IMP
 biological_processGO:0032060 bleb assembly IMP
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0034767 positive regulation of ion transmembrane transport IMP
 biological_processGO:0035590 purinergic nucleotide receptor signaling pathway IMP
 biological_processGO:0035630 bone mineralization involved in bone maturation IEA
 biological_processGO:0035725 sodium ion transmembrane transport IGI
 biological_processGO:0043065 positive regulation of apoptotic process ISS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0045794 negative regulation of cell volume IMP
 biological_processGO:0046931 pore complex assembly IMP
 biological_processGO:0060100 positive regulation of phagocytosis, engulfment ISS
 biological_processGO:0061588 calcium activated phospholipid scrambling IEA
 biological_processGO:0061589 calcium activated phosphatidylserine scrambling IEA
 biological_processGO:0061590 calcium activated phosphatidylcholine scrambling IEA
 biological_processGO:0061591 calcium activated galactosylceramide scrambling IEA
 biological_processGO:0070588 calcium ion transmembrane transport IGI
 biological_processGO:0090026 positive regulation of monocyte chemotaxis IMP
 biological_processGO:0097045 phosphatidylserine exposure on blood platelet IMP
 biological_processGO:1902304 positive regulation of potassium ion export ISS
 biological_processGO:1902476 chloride transmembrane transport IGI
 biological_processGO:2000353 positive regulation of endothelial cell apoptotic process IMP
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0034707 chloride channel complex IEA
 cellular_componentGO:0035579 specific granule membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070821 tertiary granule membrane TAS
 molecular_functionGO:0005227 calcium activated cation channel activity ISS
 molecular_functionGO:0005229 intracellular calcium activated chloride channel activity TAS
 molecular_functionGO:0005244 voltage-gated ion channel activity ISS
 molecular_functionGO:0005247 voltage-gated chloride channel activity IMP
 molecular_functionGO:0005254 chloride channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017128 phospholipid scramblase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001892 Bleeding diathesis "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators]
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 HP:0008354 Factor X activation deficiency 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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