Entry - *606154 - MUCIN 16; MUC16 - OMIM

 
 
* 606154

MUCIN 16; MUC16


Alternative titles; symbols

OVARIAN CARCINOMA ANTIGEN CA125


HGNC Approved Gene Symbol: MUC16

Cytogenetic location: 19p13.2   Genomic coordinates (GRCh38) : 19:8,848,844-9,065,751 (from NCBI)


TEXT

▼ Cloning and Expression

CA125 is a tumor antigen widely used in monitoring ovarian cancer. Using a rabbit polyclonal antibody produced to purified CA125 antigen to screen cells from an ovarian cancer cell (OVCAR-3) cDNA library in E. coli, Yin and Lloyd (2001) cloned a long partial cDNA, which they designated MUC16, corresponding to the CA125 antigen. The deduced 1,890-amino acid protein contains characteristic features of a mucin-type molecule, including a high serine, threonine, and proline content in an N-terminal region of 9 partially conserved tandem repeats and a C-terminal region nontandem repeat sequence containing a possible transmembrane region and a potential tyrosine phosphorylation site. MUC16 also has a high leucine content. Northern blot analysis showed that the level of MUC16 mRNA correlated with the expression of CA125 in a panel of cell lines.

Argueso et al. (2003) demonstrated that the membrane-associated mucin MUC16 was expressed by the human ocular surface and that MUC16 carried the H185 carbohydrate epitope. The authors proposed further studies on the expression of MUC16 and the characterization of the molecular structure of the H185 carbohydrate epitope to determine their biologic significance on the healthy ocular surface and in dry eye syndrome.


▼ Mapping

By sequence analysis, Yin and Lloyd (2001) provisionally assigned the MUC16 gene to chromosome 19.


▼ REFERENCES

  1. Argueso, P., Spurr-Michaud, S., Russo, C. L., Tisdale, A., Gipson, I. K. MUC16 mucin is expressed by the human ocular surface epithelia and carries the H185 carbohydrate epitope. Invest. Ophthal. Vis. Sci. 44: 2487-2495, 2003. [PubMed: 12766047, related citations] [Full Text]

  2. Yin, B. W. T., Lloyd, K. O. Molecular cloning of the CA125 ovarian cancer antigen: identification as a new mucin, MUC16. J. Biol. Chem. 276: 27371-27375, 2001. [PubMed: 11369781, related citations] [Full Text]


Contributors:
Jane Kelly - updated : 10/27/2003
Creation Date:
Carol A. Bocchini : 7/25/2001
Edit History:
cwells : 10/27/2003
mcapotos : 7/27/2001
carol : 7/25/2001

* 606154

MUCIN 16; MUC16


Alternative titles; symbols

OVARIAN CARCINOMA ANTIGEN CA125


HGNC Approved Gene Symbol: MUC16

Cytogenetic location: 19p13.2   Genomic coordinates (GRCh38) : 19:8,848,844-9,065,751 (from NCBI)


TEXT

Cloning and Expression

CA125 is a tumor antigen widely used in monitoring ovarian cancer. Using a rabbit polyclonal antibody produced to purified CA125 antigen to screen cells from an ovarian cancer cell (OVCAR-3) cDNA library in E. coli, Yin and Lloyd (2001) cloned a long partial cDNA, which they designated MUC16, corresponding to the CA125 antigen. The deduced 1,890-amino acid protein contains characteristic features of a mucin-type molecule, including a high serine, threonine, and proline content in an N-terminal region of 9 partially conserved tandem repeats and a C-terminal region nontandem repeat sequence containing a possible transmembrane region and a potential tyrosine phosphorylation site. MUC16 also has a high leucine content. Northern blot analysis showed that the level of MUC16 mRNA correlated with the expression of CA125 in a panel of cell lines.

Argueso et al. (2003) demonstrated that the membrane-associated mucin MUC16 was expressed by the human ocular surface and that MUC16 carried the H185 carbohydrate epitope. The authors proposed further studies on the expression of MUC16 and the characterization of the molecular structure of the H185 carbohydrate epitope to determine their biologic significance on the healthy ocular surface and in dry eye syndrome.


Mapping

By sequence analysis, Yin and Lloyd (2001) provisionally assigned the MUC16 gene to chromosome 19.


REFERENCES

  1. Argueso, P., Spurr-Michaud, S., Russo, C. L., Tisdale, A., Gipson, I. K. MUC16 mucin is expressed by the human ocular surface epithelia and carries the H185 carbohydrate epitope. Invest. Ophthal. Vis. Sci. 44: 2487-2495, 2003. [PubMed: 12766047] [Full Text: https://doi.org/10.1167/iovs.02-0862]

  2. Yin, B. W. T., Lloyd, K. O. Molecular cloning of the CA125 ovarian cancer antigen: identification as a new mucin, MUC16. J. Biol. Chem. 276: 27371-27375, 2001. [PubMed: 11369781] [Full Text: https://doi.org/10.1074/jbc.M103554200]


Contributors:
Jane Kelly - updated : 10/27/2003

Creation Date:
Carol A. Bocchini : 7/25/2001

Edit History:
cwells : 10/27/2003
mcapotos : 7/27/2001
carol : 7/25/2001



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Nov. 17, 2024