MATN3 (matrilin 3)

2016-01-01  

Identity

HGNC
LOCATION
2p24.1
LOCUSID
ALIAS
DIPOA,EDM5,HOA,OADIP,OS2,SEMDBCD

Other Information

Locus ID:

NCBI: 4148
MIM: 602109
HGNC: 6909
Ensembl: ENSG00000132031

Variants:

dbSNP: 4148
ClinVar: 4148
TCGA: ENSG00000132031
COSMIC: MATN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132031ENST00000407540O15232
ENSG00000132031ENST00000421259O15232

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
ECM proteoglycansREACTOMER-HSA-3000178

References

Pubmed IDYearTitleCitations
127368712003Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3.49
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
175176942007Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.36
156941292005COMP mutations, chondrocyte function and cartilage matrix.35
147298352004Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.28
162871282005Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.28
219225962012Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.26
154599722004Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.19
161995502005Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not.19
281393552017Intra-articular Delivery of Antago-miR-483-5p Inhibits Osteoarthritis by Modulating Matrilin 3 and Tissue Inhibitor of Metalloproteinase 2.19

Citation

Dessen P

MATN3 (matrilin 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55578/matn3