Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4148
Gene name	Matrilin 3
Gene symbol	MATN3
Synonyms (NCBI Gene)	DIPOAEDM5HOAOADIPOS2SEMDBCD
Chromosome	2
Chromosome location	2p24.1
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

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939677	G>T	Pathogenic	Coding sequence variant, missense variant
rs104893637	G>A	Pathogenic	Coding sequence variant, missense variant
rs104893640	C>T	Pathogenic	Coding sequence variant, missense variant
rs104893641	C>G	Pathogenic	Coding sequence variant, missense variant
rs104893645	A>T	Pathogenic	Coding sequence variant, missense variant
rs201755444	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs397515546	G>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019479	hsa-miR-148b-3p	Microarray	17612493
MIRT030037	hsa-miR-26b-5p	Microarray	19088304
MIRT1133736	hsa-miR-186	CLIP-seq
MIRT1133737	hsa-miR-3133	CLIP-seq
MIRT1133738	hsa-miR-633	CLIP-seq
MIRT2038082	hsa-miR-128	CLIP-seq
MIRT2038083	hsa-miR-27a	CLIP-seq
MIRT2038084	hsa-miR-27b	CLIP-seq
MIRT2038085	hsa-miR-374c	CLIP-seq
MIRT2038086	hsa-miR-3924	CLIP-seq
MIRT2038087	hsa-miR-4272	CLIP-seq
MIRT2038088	hsa-miR-4712-5p	CLIP-seq
MIRT2038089	hsa-miR-4797-3p	CLIP-seq
MIRT2038090	hsa-miR-513a-5p	CLIP-seq
MIRT2038091	hsa-miR-655	CLIP-seq
MIRT2038092	hsa-miR-770-5p	CLIP-seq
MIRT2268013	hsa-miR-340	CLIP-seq
MIRT2567699	hsa-miR-3165	CLIP-seq
MIRT2567700	hsa-miR-34c-3p	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	TAS	9350998
GO:0005201	Function	Extracellular matrix structural constituent	TAS	9350998
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15075323, 16287128, 23956175, 25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	ISO
GO:0030198	Process	Extracellular matrix organization	NAS	10660556
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	9350998
GO:0051216	Process	Cartilage development	IEA
GO:0120216	Component	Matrilin complex	IEA
GO:0120216	Component	Matrilin complex	ISO

MIM	HGNC	e!Ensembl
602109	6909	ENSG00000132031

O15232

Protein name

Matrilin-3

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00092	VWA	83 → 257	von Willebrand factor type A domain	Domain
PF14670	FXa_inhibition	310 → 346		Domain
PF14670	FXa_inhibition	352 → 388		Domain
PF10393	Matrilin_ccoil	439 → 483	Trimeric coiled-coil oligomerisation domain of matrilin	Coiled-coil

Tissue specificity

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

Sequence

MPRPAPARRLPGLLLLLWPLLLLPSAAPDPVARPGFRRLETRGPGGSPGRRPSPAAPDGA
PASGTSEPGRARGAGVCKSRPLDLVFIIDSSRSVRPLEFTKVKTFVSRIIDTLDIGPADT
RVAVVNYASTVKIEFQLQAYTDKQSLKQAVGRITPLSTGTMSGLAIQTAMDEAFTVEAGA
REPSSNIPKVAIIVTDGRPQDQVNEVAARAQASGIELYAVGVDRADMASLKMMASEPLEE
HVFYVETYGVIEKLSSRFQETFCALDPCVLGTHQCQHVCISDGEGKHHCECSQGYTLNAD
KKTCSALDRCALNTHGCEHICVNDRSGSYHCECYEGYTLNEDRKTCSAQDKCALGTHGCQ
HICVNDRTGSHHCECYEGYTLNADKKTCSVRDKCALGSHGCQHICVSDGAASYHCDCYPG
YTLNEDKKTCSATEEARRLVSTEDACGCEATLAFQDKVSSYLQRLNTKLDDILEKLKINE
YGQIHR

Sequence length

486

Interactions

View interactions

	Reactome
			ECM proteoglycans Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

135

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Multiple epiphyseal dysplasia	Likely pathogenic; Pathogenic	rs2103484088, rs104893645, rs104893637, rs28939677, rs397515546	RCV002210945 RCV002054422 RCV002054423 RCV002054424 RCV002054898
Multiple epiphyseal dysplasia type 5	Likely pathogenic; Pathogenic	rs1673102663, rs104893645, rs104893637, rs28939677, rs104893641, rs397515546	RCV002238723 RCV000007976 RCV000007977 RCV000007979 RCV000007982 RCV000055878
Osteoarthritis susceptibility 2	Likely pathogenic	rs749515743	RCV001198723
Spondyloepimetaphyseal dysplasia, matrilin-3 type	Likely pathogenic; Pathogenic	rs104893637, rs104893639, rs397515546	RCV004566694 RCV000055879 RCV001375669

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs369658011	RCV005926151
Connective tissue disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs2103483989, rs753326503, rs149849256, rs77245812, rs52826764, rs3816644, rs201755444, rs192462913, rs201491595, rs200762092, rs77146641, rs571353547	RCV002277042 RCV002278840 RCV002277421 RCV002276539 RCV002278176 RCV002278309 RCV002278518 RCV002278517 RCV002278516 RCV002279501 RCV002279603 RCV002279599
Familial cancer of breast	Benign	rs149849256	RCV005892019
Gastric cancer	Benign	rs16987282	RCV005915454
MATN3-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs150154167, rs77245812, rs2527703636, rs201755444, rs762137848, rs773124119, rs745606215, rs766299841	RCV003948891 RCV003904818 RCV003408499 RCV003940343 RCV003902158 RCV003902242 RCV003954922 RCV003960532
Multiple Epiphyseal Dysplasia, Dominant	Benign; Likely benign	rs188620236	RCV000405451
Uterine carcinosarcoma	Benign	rs16987282	RCV005915455
Uterine corpus endometrial carcinoma	Benign	rs149849256	RCV005892020

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bone Diseases	Associate	17881354
Cartilage Diseases	Associate	18759284, 29483929
Chondroma	Stimulate	18759284
Chondrosarcoma	Associate	18759284
COVID 19	Associate	36012423
Disease	Associate	36675026
Epiphyseal dysplasia multiple 1	Associate	29483929
Fuchs' Endothelial Dystrophy	Associate	35239706
Gait Disorders Neurologic	Associate	24629099
Genu Varum	Associate	39293509
Growth Disorders	Associate	17881354, 39293509
HEM dysplasia	Associate	36675026
Inflammation	Stimulate	19840795
Intervertebral Disc Degeneration	Associate	16396979, 32495856
Joint Instability	Associate	39293509
Lymphoma Non Hodgkin	Associate	36675026
Motor Neuron Disease	Associate	39293509
Neoplasms	Associate	18759284
Nerve Degeneration	Stimulate	11950247
Osteoarthritis	Associate	11950247, 12736871, 16396979, 17881354, 18759284, 22973175, 24716474, 29483929, 33166667
Osteoarthritis	Stimulate	19840795, 30307059
Osteoarthritis Knee	Associate	22973175
Osteochondrodysplasias	Associate	11565064, 17881354, 21922596, 24629099, 30740902, 32264862, 39293509
Osteosarcoma	Associate	33308057
Spondylo Megaepiphyseal Metaphyseal Dysplasia	Associate	39293509
Spondyloepimetaphyseal Dysplasia X Linked	Associate	39293509
Stomach Neoplasms	Associate	34281542, 34746312
Stomach Neoplasms	Stimulate	34900024

MATN3 (matrilin 3)