Matrilin-2

Protein-coding gene in the species Homo sapiens
MATN2
Identifiers
AliasesMATN2, matrilin 2
External IDsOMIM: 602108; MGI: 109613; HomoloGene: 20538; GeneCards: MATN2; OMA:MATN2 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for MATN2
Genomic location for MATN2
Band8q22.1-q22.2Start97,868,840 bp[1]
End98,036,724 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for MATN2
Genomic location for MATN2
Band15|15 B3.1Start34,306,823 bp[2]
End34,436,419 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • tibia

  • trigeminal ganglion

  • spinal ganglia

  • seminal vesicula

  • canal of the cervix

  • Achilles tendon

  • tail of epididymis

  • thyroid gland

  • right ovary

  • left lobe of thyroid gland
Top expressed in
  • external carotid artery

  • efferent ductule

  • vas deferens

  • sciatic nerve

  • internal carotid artery

  • seminal vesicula

  • Gonadal ridge

  • tunica adventitia of aorta

  • cervix

  • decidua
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • calcium ion binding
  • protein binding
  • molecular function
  • extracellular matrix structural constituent
Cellular component
  • extracellular region
  • basement membrane
  • extracellular matrix
  • extracellular space
  • collagen-containing extracellular matrix
Biological process
  • glial cell migration
  • dendrite regeneration
  • axon guidance
  • neuron migration
  • response to axon injury
  • neuron projection development
  • biological process
  • growth plate cartilage chondrocyte morphogenesis
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4147

17181

Ensembl

ENSG00000132561

ENSMUSG00000022324

UniProt

O00339

Q3TQ80

RefSeq (mRNA)

NM_002380
NM_030583
NM_001317748

NM_016762
NM_001358780

RefSeq (protein)

NP_001304677
NP_002371
NP_085072

NP_058042
NP_001345709

Location (UCSC)Chr 8: 97.87 – 98.04 MbChr 15: 34.31 – 34.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Matrilin-2 is a matrilin protein that in humans is encoded by the MATN2 gene.[5][6][7]

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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000132561 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022324 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Deak F, Piecha D, Bachrati C, Paulsson M, Kiss I (May 1997). "Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily". J Biol Chem. 272 (14): 9268–74. doi:10.1074/jbc.272.14.9268. PMID 9083061.
  6. ^ Mates L, Korpos E, Deak F, Liu Z, Beier DR, Aszodi A, Kiss I (Mar 2002). "Comparative analysis of the mouse and human genes (Matn2 and MATN2) for matrilin-2, a filament-forming protein widely distributed in extracellular matrices". Matrix Biol. 21 (2): 163–74. doi:10.1016/S0945-053X(01)00194-9. PMID 11852232.
  7. ^ a b "Entrez Gene: MATN2 matrilin 2".

Further reading

  • Muratoglu S, Krysan K, Balázs M, et al. (2001). "Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes". Cytogenet. Cell Genet. 90 (3–4): 323–7. doi:10.1159/000056797. PMID 11124542. S2CID 25764416.
  • Frank S, Schulthess T, Landwehr R, et al. (2002). "Characterization of the matrilin coiled-coil domains reveals seven novel isoforms". J. Biol. Chem. 277 (21): 19071–9. doi:10.1074/jbc.M202146200. PMID 11896063.
  • Piecha D, Hartmann K, Kobbe B, et al. (2002). "Expression of matrilin-2 in human skin". J. Invest. Dermatol. 119 (1): 38–43. doi:10.1046/j.1523-1747.2002.01789.x. PMID 12164922.
  • Piecha D, Wiberg C, Mörgelin M, et al. (2002). "Matrilin-2 interacts with itself and with other extracellular matrix proteins". Biochem. J. 367 (Pt 3): 715–21. doi:10.1042/BJ20021069. PMC 1222949. PMID 12180907.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
  • Sharma MK, Watson MA, Lyman M, et al. (2006). "Matrilin-2 expression distinguishes clinically relevant subsets of pilocytic astrocytoma". Neurology. 66 (1): 127–30. doi:10.1212/01.wnl.0000188667.66646.1c. PMID 16401863. S2CID 45662351.
  • Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.


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