Matrilin-2

MATN2
Identifiers
Aliases	MATN2 , matrilin 2
External IDs	OMIM: 602108 MGI: 109613 HomoloGene: 20538 GeneCards: MATN2
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8q22.1-q22.2 Start 97,868,840 bp [1] End 98,036,724 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15|15 B3.1 Start 34,306,823 bp [2] End 34,436,419 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia trigeminal ganglion spinal ganglia seminal vesicula canal of the cervix Achilles tendon thyroid gland left lobe of thyroid gland tibial nerve sural nerve Top expressed in external carotid artery vas deferens sciatic nerve internal carotid artery seminal vesicula cervix dermis epididymis pineal gland aortic valve 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 Species Human Mouse 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 Mb Chr 15: 34.31 – 34.44 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000132561 - Ensembl, May 2017
2. 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. "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.