Matrilin-3

Matrilin-3 is a matrilin protein that in humans is encoded by the MATN3 gene.[5][6][7]

MATN3
Identifiers
Aliases	MATN3, DIPOA, EDM5, HOA, OADIP, OS2, matrilin 3
External IDs	OMIM: 602109 MGI: 1328350 HomoloGene: 1785 GeneCards: MATN3
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p24.1 Start 19,992,052 bp[1] End 20,012,668 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 A1.1|12 3.96 cM Start 8,947,929 bp[2] End 8,972,028 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • calcium ion binding • extracellular matrix structural constituent • GO:0001948 protein binding Cellular component • extracellular region • endoplasmic reticulum lumen • extracellular matrix • extracellular • collagen-containing extracellular matrix Biological process • skeletal system development • extracellular matrix organization • post-translational modification • cellular protein metabolic process • growth plate cartilage chondrocyte morphogenesis • cartilage development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4148	17182
Ensembl	ENSG00000132031	ENSMUSG00000020583
UniProt	O15232	O35701
RefSeq (mRNA)	NM_002381	NM_010770
RefSeq (protein)	NP_002372	NP_034900
Location (UCSC)	Chr 2: 19.99 – 20.01 Mb	Chr 12: 8.95 – 8.97 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000132031 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020583 - 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. Wagener R, Kobbe B, Paulsson M (Oct 1997). "Primary structure of matrilin-3, a new member of a family of extracellular matrix proteins related to cartilage matrix protein (matrilin-1) and von Willebrand factor". FEBS Lett. 413 (1): 129–34. doi:10.1016/S0014-5793(97)00895-8. PMID 9287130.
6. Belluoccio D, Trueb B (Nov 1997). "Matrilin-3 from chicken cartilage". FEBS Lett. 415 (2): 212–6. doi:10.1016/S0014-5793(97)01126-5. PMID 9350998.
7. "Entrez Gene: MATN3 matrilin 3".

External links

• GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant

Further reading

• Belluoccio D, Schenker T, Baici A, Trueb B (1998). "Characterization of human matrilin-3 (MATN3)". Genomics. 53 (3): 391–4. doi:10.1006/geno.1998.5519. PMID 9799608.
• "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Chapman KL, Mortier GR, Chapman K, et al. (2001). "Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia". Nat. Genet. 28 (4): 393–6. doi:10.1038/ng573. PMID 11479597.
• 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.
• Stefánsson SE, Jónsson H, Ingvarsson T, et al. (2003). "Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3". Am. J. Hum. Genet. 72 (6): 1448–59. doi:10.1086/375556. PMC 1180305. PMID 12736871.
• Jackson GC, Barker FS, Jakkula E, et al. (2004). "Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia". J. Med. Genet. 41 (1): 52–9. doi:10.1136/jmg.2003.011429. PMC 1757268. PMID 14729835.
• Mäkitie O, Mortier GR, Czarny-Ratajczak M, et al. (2004). "Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients". Am. J. Med. Genet. A. 125 (3): 278–84. doi:10.1002/ajmg.a.20486. PMID 14994237.
• Borochowitz ZU, Scheffer D, Adir V, et al. (2004). "Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD". J. Med. Genet. 41 (5): 366–72. doi:10.1136/jmg.2003.013342. PMC 1735768. PMID 15121775.
• Mabuchi A, Haga N, Maeda K, et al. (2005). "Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia". Hum. Mutat. 24 (5): 439–40. doi:10.1002/humu.9286. PMID 15459972.
• Hecht JT, Hayes E, Haynes R, Cole WG (2005). "COMP mutations, chondrocyte function and cartilage matrix". Matrix Biol. 23 (8): 525–33. doi:10.1016/j.matbio.2004.09.006. PMID 15694129.
• Otten C, Wagener R, Paulsson M, Zaucke F (2006). "Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not". J. Med. Genet. 42 (10): 774–9. doi:10.1136/jmg.2004.029462. PMC 1735938. PMID 16199550.
• Cotterill SL, Jackson GC, Leighton MP, et al. (2006). "Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3". Hum. Mutat. 26 (6): 557–65. doi:10.1002/humu.20263. PMC 2726956. PMID 16287128.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Eliasson GJ, Verbruggen G, Stefansson SE, et al. (2006). "Hand radiology characteristics of patients carrying the T(303)M mutation in the gene for matrilin-3". Scand. J. Rheumatol. 35 (2): 138–42. doi:10.1080/03009740500303215. PMID 16641049.
• Maeda K, Horikoshi T, Nakashima E, et al. (2007). "MATN and LAPTM are parts of larger transcription units produced by intergenic splicing: intergenic splicing may be a common phenomenon". DNA Res. 12 (5): 365–72. doi:10.1093/dnares/dsi017. PMID 16769693.
• Hills R, Mazzarella R, Fok K, et al. (2007). "Identification of an ADAMTS-4 cleavage motif using phage display leads to the development of fluorogenic peptide substrates and reveals matrilin-3 as a novel substrate". J. Biol. Chem. 282 (15): 11101–9. doi:10.1074/jbc.M611588200. PMID 17311924.
• Leighton MP, Nundlall S, Starborg T, et al. (2007). "Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation". Hum. Mol. Genet. 16 (14): 1728–41. doi:10.1093/hmg/ddm121. PMC 2674230. PMID 17517694.