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MATN3 matrilin 3 [ Homo sapiens (human) ]

Gene ID: 4148, updated on 8-Jul-2021

Summary

Official Symbol
MATN3provided by HGNC
Official Full Name
matrilin 3provided by HGNC
Primary source
HGNC:HGNC:6909
See related
Ensembl:ENSG00000132031 MIM:602109
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; SEMDBCD
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]
Expression
Biased expression in lung (RPKM 8.3), placenta (RPKM 4.2) and 9 other tissues See more
Orthologs
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Genomic context

See MATN3 in Genome Data Viewer
Location:
2p24.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (19992052..20012668, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20191813..20212429, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 32 Neighboring gene WD repeat domain 35 Neighboring gene ring finger protein, transmembrane 1 pseudogene 1 Neighboring gene WDR35 divergent transcript Neighboring gene lysosomal protein transmembrane 4 alpha Neighboring gene LAPTM4A divergent transcript Neighboring gene Sharpr-MPRA regulatory region 8017

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2014-03-12)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2014-03-12)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cartilage development IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
located_in extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 

NCBI Reference Sequences (RefSeq)

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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
    5027..25643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002381.5NP_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
    ENSP00000383894.3, ENST00000407540.8
    Conserved Domains (3) summary
    pfam10393
    Location:441483
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    19992052..20012668 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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