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Matn3 Gene Detail
Summary
  • Symbol
    Matn3
  • Name
    matrilin 3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328350
    NCBI Gene: 17182
  • Gene Overview
    MyGene.info: MATN3
Location & Maps
more
  • Sequence Map
    Chr12:8947929-8972028 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24100 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 3.96 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MATN3, matrilin 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MATN3, matrilin 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DIPOA, EDM5, HOA, OADIP, OS2
  • Links
    NCBI Gene ID: 4148
    neXtProt AC: NX_O15232

  • Chr Location
    2p24-p23; chr2:19992052-20012694 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Matn3 mouse models; 3 with human MATN3 associations

Human Disease Mouse Models
       Epiphyseal Dysplasia, Multiple, 5; EDM5   OMIM: 607078 View 1 model
       Osteoarthritis Susceptibility 1; OS1   OMIM: 165720 View 1 model
       Osteoarthritis Susceptibility 2; OS2   OMIM: 140600
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related   OMIM: 608728
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 3 alleles in 3 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for disruptions in this gene display a normal phenotype.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030695 VEGA Gene Model | MGI Sequence Detail 24100 C57BL/6J ±  kb
transcript OTTMUST00000075996 VEGA | MGI Sequence Detail 3014 Not Applicable  
polypeptide OTTMUSP00000039934 VEGA | MGI Sequence Detail 481 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    160 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
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  • All nucleic 10
    cDNA 9
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
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MGI:2144975
References
more
  • Summaries
    All 46
    Developmental Gene Expression 13
    Diseases 3
    Gene Ontology 3
    Phenotypes 11
  • Earliest
    J:51112 Wagener R, et al., Primary structure of matrilin-3, a new member of a family of extracellular matrix proteins related to cartilage matrix protein (matrilin-1) and von Willebrand factor. FEBS Lett. 1997 Aug 11;413(1):129-34
  • Latest
    J:218286 Yang X, et al., Matrilin-3 inhibits chondrocyte hypertrophy as a bone morphogenetic protein-2 antagonist. J Biol Chem. 2014 Dec 12;289(50):34768-79

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory