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    MATN3 matrilin 3 [ Homo sapiens (human) ]

    Gene ID: 4148, updated on 17-Jun-2024

    Summary

    Official Symbol
    MATN3provided by HGNC
    Official Full Name
    matrilin 3provided by HGNC
    Primary source
    HGNC:HGNC:6909
    See related
    Ensembl:ENSG00000132031 MIM:602109; AllianceGenome:HGNC:6909
    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
    NEW
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    Genomic context

    See MATN3 in Genome Data Viewer
    Location:
    2p24.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (19992052..20012668, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (20025556..20046168, complement)
    105.20220307 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 H3K27ac hESC enhancer GRCh37_chr2:20100705-20101586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20101587-20102467 Neighboring gene tetratricopeptide repeat domain 32 Neighboring gene WD repeat domain 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15371 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20189663-20190166 Neighboring gene ring finger protein, transmembrane 1 pseudogene 1 Neighboring gene WDR35 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20211533-20212145 Neighboring gene lysosomal protein transmembrane 4 alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15374 Neighboring gene LAPTM4A divergent transcript Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20280320-20280876 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20280877-20281433 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20291019-20291520 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20291521-20292020 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 extracellular matrix organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in extracellular matrix organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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
     
    located_in collagen-containing extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in collagen-containing extracellular matrix NAS
    Non-traceable Author Statement
    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
     
    part_of matrilin complex ISO
    Inferred from Sequence Orthology
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B2CPU0, O15232, Q4ZG02
      UniProtKB/TrEMBL
      A8K491
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      20025556..20046168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)