• Gene id: 8785

Gene Summary

• Gene Symbol: MATN4   Gene   UCSC   Ensembl
• Gene name: matrilin 4
• Alternate names: matrilin-4,
• Gene location: 20q13.12 (45308565: 45293445)     Exons: 9     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is
• OMIM: 603897

Protein Summary

• Protein general information: O95460  
  • Name: Matrilin 4
  • Length: 622  
  • Mass: 68487
  • Tissue specificity: Embryonic kidney, lung and placenta.
• Sequence:

  MRGLLCWPVLLLLLQPWETQLQLTGPRCHTGPLDLVFVIDSSRSVRPFEFETMRQFLMGLLRGLNVGPNATRVGV
  IQYSSQVQSVFPLRAFSRREDMERAIRDLVPLAQGTMTGLAIQYAMNVAFSVAEGARPPEERVPRVAVIVTDGRP
  QDRVAEVAAQARARGIEIYAVGVQRADVGSLRAMASPPLDEHVFLVESFDLIQEFGLQFQSRLCGKDQCAEGGHG
  CQHQCVNAWAMFHCTCNPGYKLAADNKSCLAIDLCAEGTHGCEHHCVNSPGSYFCHCQVGFVLQQDQRSCRAIDY
  CSFGNHSCQHECVSTPGGPRCHCREGHDLQPDGRSCQVRDLCNGVDHGCEFQCVSEGLSYRCLCPEGRQLQADGK
  SCNRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVK
  QAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRALNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGV
  GKAVEAELREIASEPAELHVSYAPDFGTMTHLLENLRGSICPEEGISAGTELRSPCECESLVEFQGRTLGALESL
  TLNLAQLTARLEDLENQLANQK

• Structural information:
  • Protein Domains: (34..21-)
    (/note="VWFA-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
    (215..25-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (256..29-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE--)
  • Interpro: IPR026823  IPR001881  IPR013032  IPR000742  IPR000152   IPR009030  IPR034306  IPR036337  IPR019466  IPR002035  IPR036465  
  • Prosite: PS00010 PS01186 PS50026 PS50234
  • STRING: ENSP00000361842
• Other Databases: GeneCards:  MATN4  Malacards:  MATN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	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:0005576	extracellular region	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881