COL4A6

GENE INFORMATION

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Gene name

COL4A6

Synonyms

Description

Collagen, type IV, alpha 6 (HGNC Symbol)

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

Chromosome

X

Cytoband

q22.3

Chromosome location (bp)

108155607 - 108439497

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000197565 (version 78.38)

Entrez gene

1288

UniProt

Q14031 (UniProt - Evidence at protein level)

neXtProt

NX_Q14031

Antibodypedia

COL4A6 antibodies
 

PROTEIN VIEW

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COL4A6-001
 
COL4A6-002
 
COL4A6-201
 
COL4A6-202
 
COL4A6-203
 
COL4A6-204
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL4A6-001 ENSP00000361290
ENST00000372216
Q14031
Show all »
Show » Show » 1691 163.8 Yes 0
COL4A6-002 ENSP00000334733
ENST00000334504
Q14031
Show all »
Show » Show » 1690 163.6 Yes 0
COL4A6-201 ENSP00000378340
ENST00000394872
B4DU54
Show all »
Show » Show » 1707 165.5 Yes 0
COL4A6-202 ENSP00000445236
ENST00000538570
F5H3Q5
Show all »
Show » Show » 1633 158.1 Yes 0
COL4A6-203 ENSP00000443707
ENST00000545689
B4DU54
Show all »
Show » Show » 1678 162.5 Yes 0
COL4A6-204 ENSP00000482970
ENST00000621266
F5H851
Show all »
Show » Show » 1666 161.3 Yes 0