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MATN3 matrilin 3 [ Homo sapiens (human) ]

Gene ID: 4148, updated on 26-May-2016
Official Symbol
MATN3provided by HGNC
Official Full Name
matrilin 3provided by HGNC
Primary source
HGNC:HGNC:6909
See related
Ensembl:ENSG00000132031 HPRD:03661; MIM:602109; Vega:OTTHUMG00000151788
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HOA; OS2; EDM5; DIPOA; OADIP
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 von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
Orthologs
Location:
2p24-p23
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (19992052..20012694, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20191813..20212455, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373462 Neighboring gene tetratricopeptide repeat domain 32 Neighboring gene WD repeat domain 35 Neighboring gene uncharacterized LOC101928222 Neighboring gene ring finger protein, transmembrane 1 pseudogene 1 Neighboring gene lysosomal protein transmembrane 4 alpha Neighboring gene uncharacterized LOC105373463

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
extracellular matrix organization TAS
Traceable Author Statement
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008087.1 RefSeqGene

    Range
    5001..25643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002381.4NP_002372.1  matrilin-3 precursor

    See identical proteins and their annotated locations for NP_002372.1

    Status: REVIEWED

    Source sequence(s)
    AC079145, AJ224741, AU121718, CA447528, Y13341
    Consensus CDS
    CCDS46226.1
    UniProtKB/Swiss-Prot
    O15232
    Related
    ENSP00000383894, OTTHUMP00000200547, ENST00000407540, OTTHUMT00000323925
    Conserved Domains (3) summary
    pfam10393
    Location:441484
    Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin
    pfam14670
    Location:310346
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:80303
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    19992052..20012694 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    20121147..20141790 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)