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Membrane Component, Chromosome 17, Surface Marker 2 OKDB#: 1243
 Symbols: M17S2 Species: human
 Synonyms: MEMBRANE COMPONENT, CHROMOSOME 17, SURFACE MARKER 2;  Locus: 17q21.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment CA125 (also symbolized M17S2) is a tumor antigen widely used in monitoring ovarian cancer, although the nature of the antigen is poorly understood.

NCBI Summary: The protein encoded by this gene has been identified as an ovarian tumor antigen used in monitoring ovarian cancer. This protein contains a B-box/coiled coil motif, which is present in many genes with transformation potential. The function of this gene is unknown. This gene is located on a region of chromosome 17q21.1 that is in close proximity to tumor suppressor gene BRCA1. Three alternatively spliced variants are described.
General function
Comment
Cellular localization Plasma membrane
Comment
Ovarian function ovarian cancer
Comment Yin BW, et al 2001 reported the molecular cloning of the CA125 ovarian cancer antigen: Identification as a new mucin (MUC16). . CA125 is an ovarian cancer antigen that is basis for a widely-used serum assay for the monitoring of patients with ovarian cancer, however detailed information on its biochemical and molecular nature is lacking. The authors report the isolation of a long, but partial, cDNA that corresponds to the CA125 antigen. A rabbit polyclonal antibody produced to purified CA125 antigen was used to screen a lambdaZAP cDNA library from OVCAR-3 cells in Escherichia coli. The longest insert from the 54 positive isolated clones had a 5965 b.p. sequence containing a stop codon and a poly A sequence but no clear 5' initiation sequence. The deduced amino acid sequence has many of the attributes of a mucin molecule and was designated CA125/MUC16 (gene symbol MUC16). These features include a high serine, threonine, and proline content in an N-terminal region of nine partially conserved tandem repeats (156 amino acids each) and a C-terminal region non-tandem repeat sequence containing a possible transmembrane region and a potential tyrosine phosphorylation site. Northern blotting showed that the level of MUC16 mRNA correlated with the expression of CA125 in a panel of cell lines.
Expression regulated by
Comment
Ovarian localization Surface epithelium
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: July 20, 2001, 10:08 a.m. by: hsueh   email:
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last update: Aug. 14, 2001, 8:53 a.m. by: system    email:



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