COL9A2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- COL9A2 (HGNC:2218) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- collagen type IX alpha 2 chain
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- EDM2
- Alias symbols
- MED
- %HI
- 42.16(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.64(Read more about gnomAD LOEUF score)
- Cytoband
- 1p34.2
- Genomic Coordinates
-
GRCh37/hg19: chr1:40766161-40782958 NCBI Ensembl UCSC GRCh38/hg38: chr1:40300489-40317286 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001852.4 ENST00000372748.8 (Read more about MANE Select)
- Function
- Structural component of hyaline cartilage and vitreous of the eye. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4295
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
10/09/2013
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Mutations (specifically, splice site mutations resulting in deletion of exon 3) in COL9A2 have been associated with autosomal dominant epiphyseal dysplasia, multiple, 2 (phenotype 600204). At this time, no whole gene deletions (or duplications) of COL9A2 have been reported in association with this phenotype.
From GeneReviews:
"The pathologic effect of mutations in COL9A1, COL9A2, and COL9A3 is not well understood and a number of mechanisms have been proposed for these mutations including the degradation of mRNA from the mutant allele [Holden et al 1999, Spayde et al 2000], an accumulation of abnormal type IX collagen α-chains in the rER of chondrocytes [Bonnemann et al 2000], and/or the degradation of abnormal α-chains [van Mourik et al 1998]. However, the remarkable clustering of all COL9A1, COL9A2, and COL9A3 MED-causing mutations, which result in the in-frame deletion of equivalent regions of the COL3 domain of type IX collagen, led to the hypothesis that the deletion of these specific amino acids was a significant contributing factor to the development of the disease [Briggs & Chapman 2002]. Recent studies have confirmed that a COL9A3 mutation indeed abolishes binding of type IX collagen to matrilin-3 and type II collagen, thus identifying for the first time a molecular consequence of these mutations [Fresquet et al 2007]."
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There is no evidence to suggest a copy number gain of this gene causes an abnormal phenotype.
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)