Ring Finger Protein 13

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OMIM Number

609247

Gene Map Locus
3q25.1

Description

The RNF13 gene encodes a transmembrane protein that functions as a ubiquitin ligase.  The protein consists of a C terminal ring finger domain and an N terminal protease associated domain.  While the exact function of the gene is yet to be elucidated, evidence suggests that it plays an important role in cell proliferation and disease pathogenesis.  

Recent studies have implicated the RNF13 gene in human pancreatic cancer.

Molecular Genetics

The RNF13 gene is located on the long arm of chromosome 3.  It spans approximately 149 kb of genomic DNA with a coding sequence consisting of 15 exons.  Alternative splicing of the gene results in transcript variants that encode two isoforms of the RNF13 protein.  Isoform 1, made of 381 amino acids, is about 42 kDa in size while the isoform 2 is made up of 262 amino acids and is only 29 kDa in size.  

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Wakil et al. (2016) examined Saudi individuals with Coronary Artery Disease (CAD)/Myocardial Infarction (MI) to uncover the underlying genetic loci associated with these disorders.  Genome wide association study was carried out on 2668 cases and 3000 controls, all of ethnic Saudi origin.  To identify a significant association, a p value less than 5x10-8 was needed and to determine a suggestive association, a p value less than 1x10-5 was considered.  The SNP rs41411047 in the RNF13 gene was conspicuously associated with MI [p=1.07E-07, OR=1.51(1.3-1.76)].  The risk allele for MI was rs41411047_A.  While the gene has been linked to certain cancers, there is no current knowledge regarding its role in cardiovascular disease.  

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