Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: COL4A4 (collagen type IV alpha 4 chain) Homo sapiens
Analyze
Symbol: COL4A4
Name: collagen type IV alpha 4 chain
Description: Exhibits extracellular matrix structural constituent. Involved in glomerular basement membrane development. Localizes to the collagen type IV trimer. Implicated in autosomal recessive Alport syndrome and end stage renal failure.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATS2; BFH; CA44; collagen alpha-4(IV) chain; Collagen IV, alpha-4 polypeptide; collagen of basement membrane, alpha-4 chain; collagen type IV alpha 4; collagen, type IV, alpha 4
Orthologs:
Mus musculus (house mouse) : Col4a4 (collagen, type IV, alpha 4)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col4a4 (collagen type IV alpha 4 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col4a4 (collagen type IV alpha 4 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL4A4 (collagen type IV alpha 4 chain)
Canis lupus familiaris (dog) : COL4A4 (collagen type IV alpha 4 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col4a4 (collagen type IV alpha 4 chain)
Sus scrofa (pig) : COL4A4 (collagen type IV alpha 4 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl2227,002,714 - 227,164,453 (-)Ensembl
GRCh38 Ensembl2227,002,711 - 227,164,453 (-)Ensembl
GRCh382226,970,293 - 227,164,482 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372227,867,427 - 228,029,275 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,575,671 - 227,737,519 (-)NCBINCBI36hg18NCBI36
Build 342227,695,432 - 227,854,780NCBI
Celera2221,636,952 - 221,798,798 (-)NCBI
Cytogenetic Map2q36.3NCBI
HuRef2219,710,854 - 219,872,782 (-)NCBIHuRef
CHM1_12227,873,296 - 228,035,468 (-)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

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants