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“Renal Cell Carcinoma”, Victor McKusick, Mendelian Inheritance in Man, 1966. (RFN139) 腎細胞癌 icd10=C79.00

Genomic coordinate 8:124,474,880

Here I present: “Renal Cell Carcinoma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (RFN139) 腎細胞癌icd10=C79.00

INTRODUCTION.

Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos.


RING finger protein-139
is a protein that in humans is encoded by the RNF139 gene. The RNF139 protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in hereditary renal cell carcinoma.

 

Mutations in several genes have been demonstrated to lead to renal cell carcinoma including the RFN139 gene on cytogenetic location 8q24.13 and genomic coordinate 8:124,474,880. Nine (9) other genes besides RFN139 in the 8q24.13 cytogenetic location are listed BENEATH.

 

 

 

Coordinate  Symbol  Genomic Name
8:123,680,794  ANX13 Annexin XIII
8:123,851,987  FER1L6 FER1-like family, member 6
8:124,306,189  TMEM65 Transmembrane protein 65
8:124,450,820  TRMT12 tRNA methyltransferase 12 homolog
8:124,474,880  RNF139 RING finger protein-139
8:124,488,494  TATDN1 TatD DNase domain-containing protein 1
8:124,539,123  NDUFB9 NADH-ubiquinone oxidoreductase subunit B9
8:124,550,784  MTSS1 MTSS I-BAR domain containing 1 protein
8:124,998,505  SQLE Squalene epoxidase
8:125,024,260  WASHC5 WASH complex, subunit 5

 

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