Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ring finger protein 139

RNF139 gene encodes a membrane protein located in the endoplasmatic reticulum. It is involved in regulation of tumor suppressor genes. Therefore translocations that interrupt the gene may cause renal and non-medullary thyroid cancer.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nonpapillary renal cell carcinoma
DIRC2
FLCN
HNF1A
HNF1B
OGG1
RNF139
VHL

References:

1.

Cohen AJ et al. (1979) Hereditary renal-cell carcinoma associated with a chromosomal translocation.

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2.

Ohta M et al. (1996) The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers.

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3.

Gemmill RM et al. (1998) The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8.

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4.

Gemmill RM et al. (2002) The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway.

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5.

Meléndez B et al. (2003) Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1).

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6.

Brauweiler A et al. (2007) RING-dependent tumor suppression and G2/M arrest induced by the TRC8 hereditary kidney cancer gene.

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7.

Irisawa M et al. (2009) The sterol-sensing endoplasmic reticulum (ER) membrane protein TRC8 hampers ER to Golgi transport of sterol regulatory element-binding protein-2 (SREBP-2)/SREBP cleavage-activated protein and reduces SREBP-2 cleavage.

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8.

Stagg HR et al. (2009) The TRC8 E3 ligase ubiquitinates MHC class I molecules before dislocation from the ER.

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9.

Orphanet article

Orphanet ID 118347 [^]
10.

NCBI article

NCBI 11236 [^]
11.

OMIM.ORG article

Omim 603046 [^]
12.

Wikipedia article

Wikipedia EN (RNF139) [^]
Update: April 29, 2019