Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: COL4A6 (collagen type IV alpha 6 chain) Homo sapiens
Analyze
Symbol: COL4A6
Name: collagen type IV alpha 6 chain
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: collagen alpha 6 type IV; collagen alpha-6(IV) chain; collagen IV, alpha-6 polypeptide; collagen of basement membrane, alpha-6; collagen type IV alpha 6; collagen, type IV, alpha 6; CXDELq22.3; DELXq22.3; DFNX6; dJ889N15.4 (Collagen Alpha 6(IV)); MGC88184
Orthologs:
Mus musculus (house mouse) : Col4a6 (collagen, type IV, alpha 6)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col4a6 (collagen type IV alpha 6 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col4a6 (collagen type IV alpha 6 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL4A6 (collagen type IV alpha 6 chain)
Canis lupus familiaris (dog) : COL4A6 (collagen type IV alpha 6 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col4a6 (collagen type IV alpha 6 chain)
Sus scrofa (pig) : COL4A6 (collagen type IV alpha 6 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X108,155,607 - 108,439,497 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X107,398,837 - 107,682,704 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X107,285,493 - 107,569,360 (-)NCBINCBI36hg18NCBI36
Build 34X107,204,990 - 107,487,805NCBI
CeleraX107,870,304 - 108,154,135 (-)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX97,021,267 - 97,304,612 (-)NCBIHuRef
CHM1_1X107,309,670 - 107,593,553 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on COL4A6
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1343037
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-23
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.