MATN3 matrilin 3

Gene ID: 4148, updated on 12-Nov-2024
Gene type: protein coding
Also known as: HOA; OS2; EDM5; DIPOA; OADIP; SEMDBCD

Summary

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Multiple epiphyseal dysplasia type 5 MedGen: C1846843OMIM: 607078GeneReviews: Multiple Epiphyseal Dysplasia, Dominant	See labs
Multiple Epiphyseal Dysplasia, Dominant MedGen: CN043640GeneReviews: Multiple Epiphyseal Dysplasia, Dominant	See labs
Osteoarthritis susceptibility 2 MedGen: C3887526OMIM: 140600GeneReviews: Not available	See labs
Spondyloepimetaphyseal dysplasia, matrilin-3 type MedGen: C1837481OMIM: 608728GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2014-03-12) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2014-03-12) ClinGen Genome Curation Page

Genomic context

Location:: 2p24.1

Sequence:: Chromosome: 2; NC_000002.12 (19992052..20012668, complement)

Total number of exons:: 8

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MATN3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MATN3 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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