DIRC1 (disrupted in renal carcinoma 1)
2004-06-01 Anita Bonné , Eric Schoenmakers , Ad Geurts van Kessel AffiliationDepartment of Human Genetics (417), P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
DNA/RNA
Description
The DIRC1 gene contains 2 exons and spans approximately 57 kb of genomic DNA
Proteins
Expression
Expression in adult placenta, testis, ovary, prostate, and in fetal kidney, spleen, and skeletal muscle.
Function
unknown
Implicated in
Entity name
t(2;3)(q33;q21) in hereditary renal cell cancer.
Disease
Familial renal cell cancer.
Cytogenetics
Disruption of the gene because of the t(2;3) translocation.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11587072 | 2001 | The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. | Druck T et al |
| 11776380 | 2001 | Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. | Podolski J et al |
Other Information
Locus ID:
NCBI: 116093
MIM: 606423
HGNC: 15760
Ensembl: ENSG00000174325
Variants:
dbSNP: 116093
ClinVar: 116093
TCGA: ENSG00000174325
COSMIC: DIRC1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000174325 | ENST00000308100 | Q969H9 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30575946 | 2018 | Significant association of DIRC1 overexpression with tumor progression and poor prognosis in gastric cancer. | 4 |
| 30575946 | 2018 | Significant association of DIRC1 overexpression with tumor progression and poor prognosis in gastric cancer. | 4 |
Citation
Anita Bonné ; Eric Schoenmakers ; Ad Geurts van Kessel
DIRC1 (disrupted in renal carcinoma 1)
Atlas Genet Cytogenet Oncol Haematol. 2004-06-01
Online version: http://atlasgeneticsoncology.org/gene/499/dirc1
