Gene: RHBDL2

Alternate names for this Gene: RRP2

Gene Summary: The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.3

Description of this Gene: rhomboid like 2

Type of Gene: protein-coding

rs4970634 in RHBDL2 gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2094081 in RHBDL2 gene and Alcohol-Induced Disorders PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs2094081 in RHBDL2 gene and Alcohol-Related Disorders PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs2094081 in RHBDL2 gene and Alcoholic Intoxication, Chronic PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs2094081 in RHBDL2 gene and Major Depressive Disorder PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.