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MATN2 matrilin 2 [ Homo sapiens (human) ]

Gene ID: 4147, updated on 3-May-2020

Summary

Official Symbol
MATN2provided by HGNC
Official Full Name
matrilin 2provided by HGNC
Primary source
HGNC:HGNC:6908
See related
Ensembl:ENSG00000132561 MIM:602108
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

Genomic context

See MATN2 in Genome Data Viewer
Location:
8q22.1-q22.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (97869064..98036724)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (98881284..99048948)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene SUMO2 pseudogene 18 Neighboring gene ribosomal protein S23 pseudogene 1 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axon guidance IEA
Inferred from Electronic Annotation
more info
 
biological_process ND
No biological Data available
more info
 
dendrite regeneration IEA
Inferred from Electronic Annotation
more info
 
glial cell migration IEA
Inferred from Electronic Annotation
more info
 
growth plate cartilage chondrocyte morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
response to axon injury IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basement membrane IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with collagen-containing extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    UniProtKB/Swiss-Prot
    O00339
    UniProtKB/TrEMBL
    Q8N2G3
    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
    O00339
    UniProtKB/TrEMBL
    A0A140VKH7, Q8N2G3
    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
    UniProtKB/Swiss-Prot
    O00339
    UniProtKB/TrEMBL
    Q8N2G3
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005250920.2XP_005250977.1  matrilin-2 isoform X2

    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 ...
  2. XM_017013418.2XP_016868907.1  matrilin-2 isoform X3

  3. XM_017013417.2XP_016868906.1  matrilin-2 isoform X1

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