InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MATN3

Summary

InnateDB Protein

IDBP-295022.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MATN3

Protein Name

matrilin 3

Synonyms

DIPOA; EDM5; HOA; OADIP; OS2;

Species

Homo sapiens

Ensembl Protein

ENSP00000383894

InnateDB Gene

IDBG-32045 (MATN3)

Protein Structure

UniProt Annotation

Function

Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.

Subcellular Localization

Secreted.

Disease Associations

Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early- onset osteoarthritis. {ECO:0000269PubMed:11479597, ECO:0000269PubMed:12884427, ECO:0000269PubMed:14729835, ECO:0000269PubMed:15459972, ECO:0000269PubMed:15948199, ECO:0000269PubMed:16287128, ECO:0000269PubMed:21922596}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spondyloepimetaphyseal dysplasia MATN3-related (SEMD- MATN3) [MIM:608728]: A bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies. {ECO:0000269PubMed:15121775}. Note=The disease is caused by mutations affecting the gene represented in this entry.Osteoarthritis 2 (OS2) [MIM:140600]: A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints. Patients with osteoarthritis may have one, a few, or all of these sites affected. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0001501	skeletal system development
GO:0030198	extracellular matrix organization

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001881 EGF-like calcium-binding domain
IPR002035 von Willebrand factor, type A
IPR019466 Matrilin, coiled-coil trimerisation domain

PFAM

PF00008
PF07645
PF00092
PF10393

PRINTS

PIRSF

SMART

SM00181
SM00179
SM00327

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O15232