• Gene id: 4148

Gene Summary

• Gene Symbol: MATN3   Gene   UCSC   Ensembl
• Aliases: DIPOA, EDM5, HOA, OADIP, OS2
• Gene name: matrilin 3
• Alternate names: matrilin-3,
• Gene location: 2p24.1 (20012667: 19992051)     Exons: 8     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 613447

Protein Summary

• Protein general information: O15232  
  • Name: Matrilin 3
  • Length: 486  
  • Mass: 52817
  • Tissue specificity: Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.
• Sequence:

  MPRPAPARRLPGLLLLLWPLLLLPSAAPDPVARPGFRRLETRGPGGSPGRRPSPAAPDGAPASGTSEPGRARGAG
  VCKSRPLDLVFIIDSSRSVRPLEFTKVKTFVSRIIDTLDIGPADTRVAVVNYASTVKIEFQLQAYTDKQSLKQAV
  GRITPLSTGTMSGLAIQTAMDEAFTVEAGAREPSSNIPKVAIIVTDGRPQDQVNEVAARAQASGIELYAVGVDRA
  DMASLKMMASEPLEEHVFYVETYGVIEKLSSRFQETFCALDPCVLGTHQCQHVCISDGEGKHHCECSQGYTLNAD
  KKTCSALDRCALNTHGCEHICVNDRSGSYHCECYEGYTLNEDRKTCSAQDKCALGTHGCQHICVNDRTGSHHCEC
  YEGYTLNADKKTCSVRDKCALGSHGCQHICVSDGAASYHCDCYPGYTLNEDKKTCSATEEARRLVSTEDACGCEA
  TLAFQDKVSSYLQRLNTKLDDILEKLKINEYGQIHR

• Structural information:
  • Protein Domains: (83..25-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
    (264..30-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (306..34-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU000-)
  • Interpro: IPR001881  IPR013032  IPR000742  IPR009030  IPR030765   IPR036337  IPR019466  IPR002035  IPR036465  
  • Prosite: PS01186 PS50026 PS50234
  • STRING: ENSP00000383894
• Other Databases: GeneCards:  MATN3  Malacards:  MATN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0003429	growth plate cartilage chondrocyte morphogenesis	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005201	extracellular matrix structural constituent	TAS	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0031012	extracellular matrix	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051216	cartilage development	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Multiple epiphyseal dysplasia	KEGG:H00476
SEMD, Matrilin type	KEGG:H00767
Multiple epiphyseal dysplasia	KEGG:H00476
SEMD, Matrilin type	KEGG:H00767
Osteochondrodysplasia	PMID:11479597
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881