MATN3
entrez
4148
canonical
uniprot
O15232
canonical
ensembl
ENSG00000132031
resolver
ensp
ENSP00000383894
resolver
genesymbol
MATN3
resolver
hgnc
HGNC:6909
resolver
uniprot
B2CPU0
resolver
uniprot
Q4ZG02
resolver
uniprot_entry
MATN3_HUMAN
resolver
uniprot_sec
B2CPU0
resolver
uniprot_sec
Q4ZG02
resolver
amino_acid_sequence
MPRPAPARRLPGLLLLLWPLLLLPSAAPDPVARPGFRRLETRGPGGSPGRRPSPAAPDGAPASGTSEPGRARGAGVCKSRPLDLVFIIDSSRSVRPLEFTKVKTFVSRIIDTLDIGPADTRVAVVNYASTVKIEFQLQAYTDKQSLKQAVGRITPLSTGTMSGLAIQTAMDEAFTVEAGAREPSSNIPKVAIIVTDGRPQDQVNEVAARAQASGIELYAVGVDRADMASLKMMASEPLEEHVFYVETYGVIEKLSSRFQETFCALDPCVLGTHQCQHVCISDGEGKHHCECSQGYTLNADKKTCSALDRCALNTHGCEHICVNDRSGSYHCECYEGYTLNEDRKTCSAQDKCALGTHGCQHICVNDRTGSHHCECYEGYTLNADKKTCSVRDKCALGSHGCQHICVSDGAASYHCDCYPGYTLNEDKKTCSATEEARRLVSTEDACGCEATLAFQDKVSSYLQRLNTKLDDILEKLKINEYGQIHR
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:11479597, ECO:0000269|PubMed:12884427, ECO:0000269|PubMed:14729835, ECO:0000269|PubMed:15459972, ECO:0000269|PubMed:15948199, ECO:0000269|PubMed:16287128, ECO:0000269|PubMed:21922596}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (SEMDBCD) [MIM:608728]: An autosomal recessive 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:0000269|PubMed:15121775}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:12736871}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.
uniprot
proteins
mass_dalton
52817
uniprot
proteins
pubmed
11479597
uniprot
proteins
pubmed
12736871
uniprot
proteins
pubmed
12884427
uniprot
proteins
pubmed
14729835
uniprot
proteins
pubmed
15075323
uniprot
proteins
pubmed
15121775
uniprot
proteins
pubmed
15459972
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15948199
uniprot
proteins
pubmed
16287128
uniprot
proteins
pubmed
21922596
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
9287130
uniprot
proteins
pubmed
9350998
uniprot
proteins
pubmed
9799608
uniprot
proteins
sequence_length
486
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:O35701}.
uniprot
proteins