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COL4A6 (collagen type IV alpha 6 chain)
Gene
Gene SNPs Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1288
Gene nameGene Name - the full gene name approved by the HGNC.
Collagen type IV alpha 6 chain
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
COL4A6
SynonymsGene synonyms aliases
CXDELq22.3, DELXq22.3, DFNX6
ChromosomeChromosome number
X
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq22.3
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
Gene SNPs Other IDs
SNP ID Visualize variation Clinical significance Consequence
rs143895379 C>T Conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs769211787 A>C Likely-pathogenic Genic downstream transcript variant, terminator codon variant, stop lost
rs779748859 C>T Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT048147 hsa-miR-197-3p CLASH 23622248
MIRT053742 hsa-miR-29b-3p Microarray 22942087
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent IBA 21873635
GO:0005515 Function Protein binding IPI 32814053
GO:0005576 Component Extracellular region TAS
GO:0005587 Component Collagen type IV trimer IBA 21873635
GO:0005587 Component Collagen type IV trimer NAS 8125972
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Other IDs
UniProt ID Q14031
Protein name Collagen alpha-6(IV) chain
Protein function Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen
45 → 106
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
101 → 161
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
164 → 222
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
357 → 418
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
489 → 550
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
659 → 705
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
754 → 815
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
795 → 873
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
859 → 921
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
894 → 961
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
967 → 1027
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
1011 → 1076
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
1077 → 1136
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
1133 → 1192
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
1193 → 1252
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
1254 → 1315
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
1310 → 1372
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
1375 → 1434
Collagen triple helix repeat (20 copies)
 Repeat
PF01391 Collagen
1407 → 1468
Collagen triple helix repeat (20 copies)
 Repeat
PF01413 C4
1468 → 1573
C-terminal tandem repeated domain in type 4 procollagen
 Domain
PF01413 C4
1576 → 1689
C-terminal tandem repeated domain in type 4 procollagen
 Domain
Sequence 
MLINKLWLLLVTLCLTEELAAAGEKSYGKPCGGQDCSGSCQCFPEKGARGRPGPIGIQGP
TGPQGFTGSTGLSGLKGERGFPGLLGPYGPKGDKGPMGVPGFLGINGIPGHPGQPGPRGP
PGLDGCNGTQGAVGFPGPDGYPGLLGPPGLPGQKGSKGDPVLAPGSFKGMKGDPGLPGLD
GITGPQGAPGFPGAVGPAGPPGLQGPPGPPGPLGPDGNMGLGFQGEKGVKGDVGLPGPAG
PPPSTGELEFMGFPKGKKGSKGEPGPKGFPGISGPPGFPGLGTTGEKGEKGEKGIPGLPG
PRGPMGSEGVQGPPGQQGKKGTLGFPGLNGFQGIEGQKGDIGLPGPDVFIDIDGAVISGN
PGDPGVPGLPGLKGDEGIQGLRGPSGVPGLPALSGVPGALGPQGFPGLKGDQGNPGRTTI
GAAGLPGRDGLPGPPGPPGPPSPEFETETLHNKESGFPGLRGEQGPKGNLGLKGIKGDSG
FCACDGGVPNTGPPGEPGPPGPWGLIGLPGLKGARGDRGSGGAQGPAGAPGLVGPLGPSG
PKGKKGEPILSTIQGMPGDRGDSGSQGFRGVIGEPGKDGVPGLPGLPGLPGDGGQGFPGE
KGLPGLPGEKGHPGPPGLPGNGLPGLPGPRGLPGDKGKDGLPGQQGLPGSKGITLPCIIP
GSYGPSGFPGTPGFPGPKGSRGLPGTPGQPGSSGSKGEPGSPGLVHLPELPGFPGPRGEK
GLPGFPGLPGKDGLPGMIGSPGLPGSKGATGDIFGAENGAPGEQGLQGLTGHKGFLGDSG
LPGLKGVHGKPGLLGPKGERGSPGTPGQVGQPGTPGSSGPYGIKGKSGLPGAPGFPGISG
HPGKKGTRGKKGPPGSIVKKGLPGLKGLPGNPGLVGLKGSPGSPGVAGLPALSGPKGEKG
SVGFVGFPGIPGLPGIPGTRGLKGIPGSTGKMGPSGRAGTPGEKGDRGNPGPVGIPSPRR
PMSNLWLKGDKGSQGSAGSNGFPGPRGDKGEAGRPGPPGLPGAPGLPGIIKGVSGKPGPP
GFMGIRGLPGLKGSSGITGFPGMPGESGSQGIRGSPGLPGASGLPGLKGDNGQTVEISGS
PGPKGQPGESGFKGTKGRDGLIGNIGFPGNKGEDGKVGVSGDVGLPGAPGFPGVAGMRGE
PGLPGSSGHQGAIGPLGSPGLIGPKGFPGFPGLHGLNGLPGTKGTHGTPGPSITGVPGPA
GLPGPKGEKGYPGIGIGAPGKPGLRGQKGDRGFPGLQGPAGLPGAPGISLPSLIAGQPGD
PGRPGLDGERGRPGPAGPPGPPGPSSNQGDTGDPGFPGIPGPKGPKGDQGIPGFSGLPGE
LGLKGMRGEPGFMGTPGKVGPPGDPGFPGMKGKAGPRGSSGLQGDPGQTPTAEAVQVPPG
PLGLPGIDGIPGLTGDPGAQGPVGLQGSKGLPGIPGKDGPSGLPGPPGALGDPGLPGLQG
PPGFEGAPGQQGPFGMPGMPGQSMRVGYTLVKHSQSEQVPPCPIGMSQLWVGYSLLFVEG
QEKAHNQDLGFAGSCLPRFSTMPFIYCNINEVCHYARRNDKSYWLSTTAPIPMMPVSQTQ
IPQYISRCSVCEAPSQAIAVHSQDITIPQCPLGWRSLWIGYSFLMHTAAGAEGGGQSLVS
PGSCLEDFRATPFIECSGARGTCHYFANKYSFWLTTVEERQQFGELPVSETLKAGQLHTR
VSRCQVCMKSL
Sequence length 1691
Interactions View interactions

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