COL4A6 (collagen type IV alpha 6 chain)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1288
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type IV alpha 6 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL4A6
Synonyms (NCBI Gene) Gene synonyms aliases
CXDELq22.3, DELXq22.3, DFNX6
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq22.3
Summary Summary 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 col
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(3)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(29)
miRTarBase ID miRNA Experiments Reference
MIRT048147 hsa-miR-197-3p CLASH 23622248
MIRT053742 hsa-miR-29b-3p Microarray 22942087
MIRT902994 hsa-miR-1252 CLIP-seq
MIRT902995 hsa-miR-1303 CLIP-seq
MIRT902996 hsa-miR-299-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
303631 2208 ENSG00000197565
Protein
Gene SNPs Other IDs Associated diseases
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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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hearing Loss Hearing loss, X-linked 6 rs779748859 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Premature Ovarian Failure premature ovarian failure 1 N/A N/A GenCC
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 23301059, 34252262
Carcinogenesis Associate 23301059
Carcinoma Basal Cell Associate 34104083
Colorectal Neoplasms Associate 16507901, 32945508
Fibromuscular Dysplasia Associate 30045277
Genetic Diseases Inborn Inhibit 26179878
Hearing Loss Associate 33840813
Kidney Diseases Associate 8587250
Labyrinth Diseases Associate 33840813
Leiomyoma Associate 23738515, 26787895, 9502408