MATN3
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MATN3 (HGNC:6909) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
matrilin 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
EDM5, HOA
%HI
62.15(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.36(Read more about gnomAD LOEUF score)
Cytoband
2p24.1
Genomic Coordinates
GRCh37/hg19: chr2:20191813-20212429 NCBI Ensembl UCSC
GRCh38/hg38: chr2:19992052-20012668 NCBI Ensembl UCSC
MANE Select Transcript
NM_002381.5 ENST00000407540.8 (Read more about MANE Select)
Function
Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-37098
ClinGen Curation ID:
CCID:007438
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/12/2014

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Variation within MATN3 has been associated with multiple epiphyseal dysplasia (MED). To date, most MATN3 mutations identified amongst individuals with MED have been missense changes within exon 2. These changes are thought to act in a dominant-negative manner. From GeneReviews: "MATN3 mutations appear to delay the folding of the A-domain, which elicits an unfolded protein response and results in the retention of mutant matrilin-3 in the rER both in vitro [Cotterill et al 2005, Otten et al 2005] and in vivo [Leighton et al 2007, Nundlall et al 2010]." See full GeneReviews article (http://www.ncbi.nlm.nih.gov/books/NBK1123/#edm-ad.MATN3_2) for more comprehensive information. Additionally, Borochowitz et al. (PMID: 15121775) report a large consanguineous family with recessive spondyloepimetaphyseal dysplasia (SEMD) and homozygosity for a missense mutation in MATN3.

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)