• 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)