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FLASH GENE
Symbol MATN4 contributors: mct - updated : 08-06-2021
HGNC name matrilin 4
HGNC id 6910
Location 20q13.12      Physical location : 43.922.086 - 43.936.967
Synonym symbol(s) HE6WCR54, FLJ14417
DNA
TYPE functioning gene
STRUCTURE 15.12 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 splicing 2308 61.8 581 - 2012 22876117
three EGF-like
8 splicing 2099 57.3 540 - 2012 22876117
two EGF-like
8 splicing 1976 - 499 - 2012 22876117
  • one EGF-like
    • 10 - 2222 - 581 - 2012 22876117
    9 - 2304 - 575 - 2012 22876117
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Connectivecartilage   
    Nervouscentral   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text kidney, lung, placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • signal peptide
  • two Von Willebrand factor A-like domains connected by four EGF-like domains
  • a potential coiled-coil alpha helical domain
    • conjugated GlycoP
    mono polymer homomer , heteromer , polymer
    HOMOLOGY
    interspecies homolog to murine Matn4
    Homologene
    FAMILY
  • matrilin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • involved in the formation of filamentous networks in the extracellular matrices of various tissues
  • MATN2, MATN4 have been shown in human dental pulps and might be involved in the dentin-pulp complex wound-healing process
  • is an important negative regulator of the hematopoietic stem cells (HSCs) stress response
  • MATN1, MATN2, MATN3, MATN4 are important to protect articular cartilage from deterioration and are involved in the specification of the vertebral column
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major component of the extracellular matrix of cartilage
  • oligomeric extracellular matrix protein
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • link between the ECM protein MATN4 and cytokine receptor CXCR4 involved in the regulation of hematopoietic stem cells (HSCs) proliferation and expansion under acute stress
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • FBN2, TNC, MATN2, and MATN4 may be markers of the pathogenesis of either granular or lattice type I corneal dystrophy
    • Therapy target
    ANIMAL & CELL MODELS
    Matn4-/- mice developed age-associated osteoarthritis suggesting a crucial role of MATN4 in maintaining the stability of the articular cartilage