DISRUPTED IN RENAL CARCINOMA 1; DIRC1

HGNC Approved Gene Symbol: DIRC1

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:188,733,737-188,790,122 (from NCBI)

▼ Cloning and Expression

Podolski et al. (2001) described a reciprocal, balanced, constitutional chromosome translocation, t(2;3)(q33;q21), that is associated with familial clear cell renal cancer (144700). By standard positional cloning strategies, Druck et al. (2001) isolated a gene disrupted by the chromosome 2 breakpoint. The gene, designated DIRC1 (disrupted in renal cancer-1), was disrupted between exons 1 and 2 by the familial translocation. The 1.5-kb DIRC1 mRNA encoded an 11-kD predicted protein of 104 amino acids. RT-PCR analysis detected low-level expression of DIRC1 in adult placenta, testis, ovary, and prostate, and in fetal kidney, spleen, and skeletal muscle. Two familial tumors showed loss of the derivative chromosome 3, as observed in a Dutch kindred with t(2;3)-associated renal cancers in a Dutch family. Druck et al. (2001) concluded that further studies were necessary to determine if inactivation of the DIRC1 gene contributes to the development of familial cancers.

▼ Gene Structure

Druck et al. (2001) determined that the DIRC1 gene contains 2 exons and spans approximately 57 kb of genomic DNA.

▼ Mapping

By positional cloning, Druck et al. (2001) mapped the DIRC1 gene to chromosome 2q33.