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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)