ENSG00000197565


Homo sapiens

Features
Gene ID: ENSG00000197565
  
Biological name :COL4A6
  
Synonyms : COL4A6 / collagen type IV alpha 6 chain / Q14031
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q22.3
Gene start: 108155607
Gene end: 108439497
  
Corresponding Affymetrix probe sets: 210945_at (Human Genome U133 Plus 2.0 Array)   211473_s_at (Human Genome U133 Plus 2.0 Array)   213992_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000443707
Ensembl peptide - ENSP00000378340
Ensembl peptide - ENSP00000445236
Ensembl peptide - ENSP00000482970
Ensembl peptide - ENSP00000334733
Ensembl peptide - ENSP00000361290
NCBI entrez gene - 1288     See in Manteia.
OMIM - 303631
RefSeq - XM_011530854
RefSeq - NM_001287758
RefSeq - NM_001287759
RefSeq - NM_001287760
RefSeq - NM_001847
RefSeq - NM_033641
RefSeq - XM_006724617
RefSeq - XM_011530852
RefSeq - XM_011530853
RefSeq Peptide - NP_001274687
RefSeq Peptide - NP_001274688
RefSeq Peptide - NP_001274689
RefSeq Peptide - NP_001838
RefSeq Peptide - NP_378667
swissprot - A0A087WZY5
swissprot - Q14031
swissprot - A8MXH5
swissprot - F5H3Q5
swissprot - F5H851
Ensembl - ENSG00000197565
  
Related genetic diseases (OMIM): 300914 - ?Deafness, X-linked 6, 300914
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
 col4a6ENSDARG00000052061Danio rerio
 COL4A6ENSGALG00000008266Gallus gallus
 Col4a6ENSMUSG00000031273Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
COL4A2 / P08572 / collagen type IV alpha 2 chainENSG0000013487151
COL4A4 / P53420 / collagen type IV alpha 4 chainENSG0000008105249
COL4A5 / P29400 / collagen type IV alpha 5 chainENSG0000018815348
COL4A1 / P02462 / collagen type IV alpha 1 chainENSG0000018749846
COL4A3 / Q01955 / collagen type IV alpha 3 chainENSG0000016903145
Q8NFW1 / COL22A1 / collagen type XXII alpha 1 chainENSG0000016943632
Q07092 / COL16A1 / collagen type XVI alpha 1 chainENSG0000008463631
Q14993 / COL19A1 / collagen type XIX alpha 1 chainENSG0000008229324
Q96P44 / COL21A1 / collagen type XXI alpha 1 chainENSG0000012474918


Protein motifs (from Interpro)
Interpro ID Name
 IPR001442  Collagen IV, non-collagenous
 IPR008160  Collagen triple helix repeat
 IPR016133  Insect cysteine-rich antifreeze protein
 IPR016187  C-type lectin fold
 IPR036954  Collagen IV, non-collagenous domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0030198 extracellular matrix organization IEA
 biological_processGO:0030574 collagen catabolic process TAS
 biological_processGO:0038063 collagen-activated tyrosine kinase receptor signaling pathway IEA
 biological_processGO:0071230 cellular response to amino acid stimulus IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005587 collagen type IV trimer IEA
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005201 extracellular matrix structural constituent IEA


Pathways (from Reactome)
Pathway description
Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Anchoring fibril formation
Crosslinking of collagen fibrils
Laminin interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
Collagen chain trimerization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000365 Hearing loss 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0008554 Cochlear malformation "A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two." [HPO:curators]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000187498 COL4A1 / P02462 / collagen type IV alpha 1 chain  / -
 ENSG00000197565 COL4A6 / Q14031 / collagen type IV alpha 6 chain  / -
 ENSG00000188153 COL4A5 / P29400 / collagen type IV alpha 5 chain  / - / complex
 ENSG00000134871 COL4A2 / P08572 / collagen type IV alpha 2 chain  / -






 

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