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Gene Review

MATN3  -  matrilin 3

Homo sapiens

Synonyms: DIPOA, EDM5, HOA, Matrilin-3, OADIP, ...
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Disease relevance of MATN3

  • Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia [1].
  • CONCLUSIONS: These associations suggest that the MATN3 region also determines susceptibility to spinal disc degeneration and CMC1 osteoarthritis [2].
  • Proposed diagnostic criteria for HOA, including digital clubbing and radiographic periostitis, appear 86% sensitive [3].
  • The salient clinical features of primary HOA are: a bimodal distribution of disease onset with one peak during the first year of life and the other at age 15, a male predominance (nine to one), uncommon benign joint effusion, and a variety of skin abnormalities resulting from cutaneous hypertrophy or glandular dysfunction [3].
  • To study the relationship between osteoarthritis (OA) and osteoporosis (OP), radiographic osteoarthritis lesions of the hands (HOA) were quantified in 300 healthy women, aged 75 years or more, as a subgroup of a cohort originally recruited for a multi-centre study of risk factors for femoral neck fracture [4].

High impact information on MATN3

  • These are the first mutations to be identified in any of the genes encoding the matrilin family of proteins and confirm a role for matrilin-3 in the development and homeostasis of cartilage and bone [1].
  • A genomewide screen of family with autosomal-dominant MED not linked to the EDM1-3 genes provides significant genetic evidence for a MED locus on the short arm of chromosome 2 (2p24-p23), and a search for candidate genes identified MATN3 (ref. 18), encoding matrilin-3, within the critical region [1].
  • We have identified two different missense mutations in the exon encoding the von Willebrand factor A (vWFA) domain of matrilin-3 in two unrelated families with MED (EDM5) [1].
  • Behavioural functions have been assigned to most of the male-specific sensory neurons by means of cell ablations; for example, the hook sensory neurons HOA and HOB are specifically required for vulva location [5].
  • Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3 [6].

Biological context of MATN3


Anatomical context of MATN3


Associations of MATN3 with chemical compounds

  • Subsequent screening of the genomic sequence revealed a missense mutation, of a conserved amino acid codon, changing threonine to methionine in the epidermal growth factor-like domain in matrilin-3 [6].
  • METHODS: Sagittal and coronal spinopelvic alignments were investigated in 150 patients with HOA and 150 with LBP using radiographs of the whole spine in both anteroposterior and lateral views [14].

Other interactions of MATN3

  • A unique matrix organization was identified in which type II procollagen formed a central core surrounded by a protein network of mutant COMP, type IX collagen, and MATN3 [10].
  • The mutation analysis resulted in identification of the DTDST mutation in four patients (14%), the COMP mutation in three (10%) and the MATN3 mutation in three (10%) [15].
  • MATN3 encodes matrilin-3, a cartilage-specific extracellular matrix protein [16].

Analytical, diagnostic and therapeutic context of MATN3

  • Sections with severe osteoarthritic degeneration showed the highest amount of matrilin-3 mRNA, strong signals in in situ hybridization, and prominent protein deposition in the middle and deep cartilage zone [17].
  • METHODS: Normal and osteoarthritic cartilage were systematically analysed for matrilin-3 expression, using immunohistochemistry, Western blot analysis, in situ hybridization, and quantitative PCR [17].
  • The HOA combined score was positively correlated with increasing age but not with body mass index [4].
  • Bone scintigraphy has emerged as the most sensitive test for HOA; in fact, a bone scan may show evidence of periostitis in patients with no other signs, symptoms, or radiographic abnormalities of the disorder [18].
  • CONCLUSIONS: Myopic and hyperopic LASIK had different patterns of HOA induction [19].


  1. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Chapman, K.L., Mortier, G.R., Chapman, K., Loughlin, J., Grant, M.E., Briggs, M.D. Nat. Genet. (2001) [Pubmed]
  2. Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand. Min, J.L., Meulenbelt, I., Riyazi, N., Kloppenburg, M., Houwing-Duistermaat, J.J., Seymour, A.B., van Duijn, C.M., Slagboom, P.E. Ann. Rheum. Dis. (2006) [Pubmed]
  3. Primary hypertrophic osteoarthropathy. Martínez-Lavín, M., Pineda, C., Valdez, T., Cajigas, J.C., Weisman, M., Gerber, N., Steigler, D. Semin. Arthritis Rheum. (1988) [Pubmed]
  4. The relationship between osteoarthritis of the hands, bone mineral density, and osteoporotic fractures in elderly women. Marcelli, C., Favier, F., Kotzki, P.O., Ferrazzi, V., Picot, M.C., Simon, L. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. (1995) [Pubmed]
  5. A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans. Barr, M.M., Sternberg, P.W. Nature (1999) [Pubmed]
  6. Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. Stefánsson, S.E., Jónsson, H., Ingvarsson, T., Manolescu, I., Jónsson, H.H., Olafsdóttir, G., Pálsdóttir, E., Stefánsdóttir, G., Sveinbjörnsdóttir, G., Frigge, M.L., Kong, A., Gulcher, J.R., Stefánsson, K. Am. J. Hum. Genet. (2003) [Pubmed]
  7. Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. Mostert, A.K., Dijkstra, P.F., Jansen, B.R., van Horn, J.R., de Graaf, B., Heutink, P., Lindhout, D. Am. J. Med. Genet. A (2003) [Pubmed]
  8. Characterization of human matrilin-3 (MATN3). Belluoccio, D., Schenker, T., Baici, A., Trueb, B. Genomics (1998) [Pubmed]
  9. The matrilins: a novel family of oligomeric extracellular matrix proteins. Deák, F., Wagener, R., Kiss, I., Paulsson, M. Matrix Biol. (1999) [Pubmed]
  10. Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. Merritt, T.M., Bick, R., Poindexter, B.J., Alcorn, J.L., Hecht, J.T. Am. J. Pathol. (2007) [Pubmed]
  11. Matrilin-3 forms disulfide-linked oligomers with matrilin-1 in bovine epiphyseal cartilage. Wu, J.J., Eyre, D.R. J. Biol. Chem. (1998) [Pubmed]
  12. Expression pattern of matrilins and other extracellular matrix proteins characterize distinct stages of cell differentiation during antler development. Korpos, E., Molnár, A., Papp, P., Kiss, I., Orosz, L., Deák, F. Matrix Biol. (2005) [Pubmed]
  13. Abundance of intraepithelial gamma delta T cells in hypertrophic obstructive but not in chronically infected adenoids. Olofsson, K., Hellström, S., Hammarström, M.L. Clin. Exp. Immunol. (1996) [Pubmed]
  14. Spinopelvic alignment in patients with osteoarthrosis of the hip: a radiographic comparison to patients with low back pain. Yoshimoto, H., Sato, S., Masuda, T., Kanno, T., Shundo, M., Hyakumachi, T., Yanagibashi, Y. Spine. (2005) [Pubmed]
  15. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Jakkula, E., Mäkitie, O., Czarny-Ratajczak, M., Czarny-Ratacjzak, M., Jackson, G.C., Damignani, R., Susic, M., Briggs, M.D., Cole, W.G., Ala-Kokko, L. Eur. J. Hum. Genet. (2005) [Pubmed]
  16. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. Mabuchi, A., Haga, N., Maeda, K., Nakashima, E., Manabe, N., Hiraoka, H., Kitoh, H., Kosaki, R., Nishimura, G., Ohashi, H., Ikegawa, S. Hum. Mutat. (2004) [Pubmed]
  17. Matrilin-3 in human articular cartilage: increased expression in osteoarthritis. Pullig, O., Weseloh, G., Klatt, A.R., Wagener, R., Swoboda, B. Osteoarthr. Cartil. (2002) [Pubmed]
  18. Clubbing and hypertrophic osteoarthropathy. Hansen-Flaschen, J., Nordberg, J. Clin. Chest Med. (1987) [Pubmed]
  19. Comparison of corneal higher-order aberrations induced by myopic and hyperopic LASIK. Kohnen, T., Mahmoud, K., Bühren, J. Ophthalmology (2005) [Pubmed]
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