Homo sapiens Gene: COL4A6
Summary
InnateDB Gene IDBG-81938.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL4A6
Gene Name collagen, type IV, alpha 6
Synonyms CXDELq22.3; DELXq22.3; DFNX6;
Species Homo sapiens
Ensembl Gene ENSG00000197565
Encoded Proteins
collagen, type IV, alpha 6
collagen, type IV, alpha 6
collagen, type IV, alpha 6
collagen, type IV, alpha 6
collagen, type IV, alpha 6
collagen, type IV, alpha 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome X:108155607-108439497
Strand Reverse strand
Band q22.3
Transcripts
ENST00000372216 ENSP00000361290
ENST00000334504 ENSP00000334733
ENST00000394872 ENSP00000378340
ENST00000487645
ENST00000468338
ENST00000477085
ENST00000461897
ENST00000545689 ENSP00000443707
ENST00000538570 ENSP00000445236
ENST00000621266 ENSP00000482970
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
Biological Process
GO:0007155 cell adhesion
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005587 collagen type IV trimer
GO:0005788 endoplasmic reticulum lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
Integrin cell surface interactions pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
Laminin interactions pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Collagen formation pathway
Anchoring fibril formation pathway
KEGG
Focal adhesion pathway
ECM-receptor interaction pathway
Protein digestion and absorption pathway
Amoebiasis pathway
Pathways in cancer pathway
Small cell lung cancer pathway
INOH
Integrin signaling pathway pathway
PID BIOCARTA
Platelet amyloid precursor protein pathway [Biocarta view]
Regulators of bone mineralization [Biocarta view]
Intrinsic prothrombin activation pathway [Biocarta view]
PID NCI
Cross-References
SwissProt Q14031
TrEMBL B4DU54
UniProt Splice Variant
Entrez Gene 1288
UniGene Hs.145586 Hs.592785
RefSeq NM_001847 NM_033641 NM_001287760 NM_001287758 NM_001287759 XM_006724617
HUGO HGNC:2208
OMIM 303631
CCDS CCDS14541 CCDS14542 CCDS76008 CCDS76010 CCDS76009
HPRD 02364
IMGT
EMBL AK300502 AL031177 AL034369 AL109943 AL136080 CH471120 D21337 L22763 U04845 U46959 U46960 U46961 U46962 U46963 U46964 U46965 U46966 U46967 U46968 U46969 U46970 U46971 U46972 U46973 U46974 U46975 U46976 U46977 U46978 U46979 U46980 U46981 U46982 U46983 U46984 U46985 U46986 U46987 U46988 U46989 U46990 U46991 U46992 U46993 U46994 U46995 U46996 U46997 U46998 U46999 U47000 U47001 U47002 U47003 U47004
GenPept AAA16338 AAA19569 AAB19038 AAB19039 BAA04809 BAG62216 CAI40756 CAI40758 CAI42045 CAI42047 CAI42993 CAI42995 CAI43139 CAI43140 EAX02688
RNA Seq Atlas 1288