COL4A3
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COL4A3 (HGNC:2204) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
collagen type IV alpha 3 chain
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
47.51(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.71(Read more about gnomAD LOEUF score)
Cytoband
2q36.3
Genomic Coordinates
GRCh37/hg19: chr2:228029340-228179508 NCBI Ensembl UCSC
GRCh38/hg38: chr2:227164624-227314792 NCBI Ensembl UCSC
MANE Select Transcript
NM_000091.5 ENST00000396578.8 (Read more about MANE Select)
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. Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20239
ClinGen Curation ID:
CCID:006907
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/22/2013

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive Alport syndrome Monarch
HI Evidence Comments:
Loss of function mutations in COL4A3 are a cause of autosomal recessive Alport syndrome. Heterozygous carriers have a 50% chance to develop hematuria and thin basement membrane nephropathy. This has historically been considered a benign condition but there is some evidence that these individuals can progress to end-stage renal disease. There is also one report of a heterozygous mutation causing autosomal dominant Alport syndrome (vander Loop, 2000, PMID:11044206) but this was a splicing mutation causing an in-frame deletion and the resulting protein incorporated into the collagen strands and had a dominant-negative effect. See Gene Reviews.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)