Alternative titles; symbols
HGNC Approved Gene Symbol: ADAM11
Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,758,988-44,781,846 (from NCBI)
From chromosomal region 17q21.3, where a tumor suppressor gene for breast and ovarian cancers is thought to reside, Emi et al. (1993) isolated a novel gene from a cosmid clone that showed somatic rearrangements in 2 breast cancers. The gene encoded a 524-amino acid metalloproteinase-like, disintegrin-like, and cysteine-rich (MDC) protein with sequence similarity to members of the snake-venom metalloprotease/disintegrin family and guinea-pig sperm-surface protein PH-30 (601533). These proteins have been implicated in cell-cell or cell-extracellular matrix interactions. Rearrangements in both tumors involved multiple exons and disrupted the coding region of the gene.
Katagiri et al. (1995) found that alternative splicing generates 2 MDC transcripts. The longer form encodes a protein of 769 amino acids; the other is the previously described cDNA that encodes a 524-amino acid isoform. RT-PCR analysis indicated that the longer form is most abundant in cerebellum.
Sagane et al. (1998) noted that MDC is a member of the cellular disintegrin, or ADAM (a disintegrin and metalloproteinase), family. See ADAM20 (603712). They isolated cDNAs encoding 2 related human proteins, MDC2 (603709) and MDC3 (603710). Northern blot analysis revealed that, like the MDC2 and MDC3 mRNAs, the 5-kb MDC transcript was expressed predominantly in brain.
Katagiri et al. (1995) reported that the MDC gene contains 28 exons and spans at least 23 kb.
Emi et al. (1993) identified the ADAM11 gene on chromosome 17q21.3.
Emi, M., Katagiri, T., Harada, Y., Saito, H., Inazawa, J., Ito, I., Kasumi, F., Nakamura, Y. A novel metalloprotease/disintegrin-like gene at 17q21.3 is somatically rearranged in two primary breast cancers. Nature Genet. 5: 151-157, 1993. [PubMed: 8252040] [Full Text: https://doi.org/10.1038/ng1093-151]
Katagiri, T., Harada, Y., Emi, M., Nakamura, Y. Human metalloprotease/disintegrin-like (MDC) gene: exon-intron organization and alternative splicing. Cytogenet. Cell Genet. 68: 39-44, 1995. [PubMed: 7956356] [Full Text: https://doi.org/10.1159/000133884]
Sagane, K., Ohya, Y., Hasegawa, Y., Tanaka, I. Metalloproteinase-like, disintegrin-like, cysteine-rich proteins MDC2 and MDC3: novel human cellular disintegrins highly expressed in the brain. Biochem. J. 334: 93-98, 1998. [PubMed: 9693107] [Full Text: https://doi.org/10.1042/bj3340093]