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    MATN2 matrilin 2 [ Homo sapiens (human) ]

    Gene ID: 4147, updated on 16-Apr-2024

    Summary

    Official Symbol
    MATN2provided by HGNC
    Official Full Name
    matrilin 2provided by HGNC
    Primary source
    HGNC:HGNC:6908
    See related
    Ensembl:ENSG00000132561 MIM:602108; AllianceGenome:HGNC:6908
    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
    Summary
    This gene encodes a member of the 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 five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in thyroid (RPKM 133.8), placenta (RPKM 60.9) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MATN2 in Genome Data Viewer
    Location:
    8q22.1-q22.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (97869064..98036724)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (98994565..99162197)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (98881292..99048952)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:98880393-98880892 Neighboring gene SUMO2 pseudogene 18 Neighboring gene ribosomal protein S23 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:98909071-98909570 Neighboring gene uncharacterized LOC124901987 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:98962761-98963312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:98963313-98963863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:99019619-99020119 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:99023104-99023762 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103766 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103770 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:99044769-99045968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27672 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:99057921-99058857 Neighboring gene RNA, U6 small nuclear 703, pseudogene Neighboring gene small nucleolar RNA, H/ACA box 72 Neighboring gene ribosomal protein L30

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog

    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in dendrite regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in glial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    matrilin-2
    Names
    testis tissue sperm-binding protein Li 94mP

    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.

    mRNA and Protein(s)

    1. NM_001317748.2NP_001304677.1  matrilin-2 isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AP002906, AP003352
      Consensus CDS
      CCDS83309.1
      Related
      ENSP00000430221.1, ENST00000524308.5
      Conserved Domains (4) summary
      cd01475
      Location:54276
      vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...
      pfam10393
      Location:870912
      Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin
      pfam14670
      Location:324359
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:479522
      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 ...
    2. NM_002380.5NP_002371.3  matrilin-2 isoform a precursor

      See identical proteins and their annotated locations for NP_002371.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AP002906, AP003352
      Consensus CDS
      CCDS55264.1
      UniProtKB/Swiss-Prot
      A8K106, E7EW74, E9PD48, E9PGL2, O00339, Q6UWA5, Q7Z5X1, Q8NDE6, Q96FT5, Q9NSZ1
      UniProtKB/TrEMBL
      A0A140VKH7
      Related
      ENSP00000254898.6, ENST00000254898.7
      Conserved Domains (4) summary
      cd01475
      Location:54276
      vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...
      pfam10393
      Location:911953
      Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin
      pfam14670
      Location:365400
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:438481
      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 ...
    3. NM_030583.4NP_085072.2  matrilin-2 isoform b precursor

      See identical proteins and their annotated locations for NP_085072.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AP002906, AP003352
      Consensus CDS
      CCDS55265.1
      Related
      ENSP00000429977.1, ENST00000521689.5
      Conserved Domains (4) summary
      cd01475
      Location:54276
      vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...
      pfam10393
      Location:892934
      Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin
      pfam14670
      Location:365400
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:652873
      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      97869064..98036724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250920.3XP_005250977.1  matrilin-2 isoform X1

      Conserved Domains (4) summary
      cd01475
      Location:54276
      vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...
      pfam10393
      Location:773815
      Matrilin_ccoil; Trimeric coiled-coil oligomerization domain of matrilin
      pfam14670
      Location:365400
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:645754
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      98994565..99162197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360478.1XP_054216453.1  matrilin-2 isoform X1