HGNC Approved Gene Symbol: MATN2
Cytogenetic location: 8q22.1-q22.2 Genomic coordinates (GRCh38): 8:97,869,064-98,036,724 (from NCBI)
Matrilin-2 is a member of the matrilin subfamily of extracellular matrix proteins containing the von Willebrand factor (VWF; 613160) type A (VWFA) domain (summary by Deak et al., 1997). For background information on matrilins, see matrilin-1 (MATN1; 115437).
Deak et al. (1997) used a chicken MATN1 probe to isolate cross-hybridizing clones from a mouse epiphyses cDNA library. They identified a mouse Matn2 cDNA encoding a deduced 956-amino acid protein. The 3.9-kb matrilin-2 mRNA was detected in a variety of mouse organs, including calvaria, uterus, heart, and brain, as well as in fibroblast and osteoblast cell lines. Expressed human and rat cDNA sequence tags indicated a high degree of interspecies conservation. Deak et al. (1997) reported the partial sequence of a potential human matrilin-2 homolog.
Muratoglu et al. (2000) cloned a full-length human MATN2 cDNA encoding a deduced 956-amino acid protein that shares 93% sequence homology with the mouse protein. MATN2 contains 2 VWFA-like domains, 10 EGF (131530)-type modules, and an oligomerization module. RT-PCR demonstrated wide expression of MATN2 in human cell lines of fibroblastic or epithelial origin. Two mRNA transcripts were detected which differ from each other in a short region that is unique to matrilin-2; 19 triplets are included or spliced out of the mature mRNA as a result of alternative 3-prime splice site selection.
By fluorescence in situ hybridization, Muratoglu et al. (2000) mapped the MATN2 gene to chromosome 8q22.
Deak, F., Piecha, D., Bachrati, C., Paulsson, M., Kiss, I. 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: 9268-9274, 1997. [PubMed: 9083061] [Full Text: https://doi.org/10.1074/jbc.272.14.9268]
Muratoglu, S., Krysan, K., Balazs, M., Sheng, H., Zakany, R., Modis, L., Kiss, I., Deak, F. 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: 323-327, 2000. [PubMed: 11124542] [Full Text: https://doi.org/10.1159/000056797]