Rhomboid-related protein 2

Rhomboid-related protein 2 is a protein that in humans is encoded by the RHBDL2 gene.^[5]

RHBDL2
Identifiers
Aliases	RHBDL2, RRP2, rhomboid like 2
External IDs	OMIM: 608962; MGI: 3608413; HomoloGene: 49508; GeneCards: RHBDL2; OMA:RHBDL2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.3 Start 38,885,807 bp[1] End 38,941,830 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D2.2 Start 123,681,667 bp[2] End 123,723,697 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of sigmoid colon rectum mucosa of transverse colon C1 segment skin of leg skin of abdomen oral cavity corpus callosum nasal epithelium palpebral conjunctiva Top expressed in lobe of prostate left colon membranous bone calvaria Dermatocranium mandible blastocyst maxilla transitional epithelium of urinary bladder duodenum More reference expression data BioGPS n/a
Gene ontology Molecular function peptidase activity serine-type peptidase activity serine-type endopeptidase activity hydrolase activity Cellular component integral component of membrane plasma membrane membrane Biological process protein processing proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54933 230726 Ensembl ENSG00000158315 ENSMUSG00000043333 UniProt Q9NX52 A2AGA4 RefSeq (mRNA) NM_017821 NM_001304746 NM_183163 NM_001356445 RefSeq (protein) NP_001291675 NP_060291 NP_898986 NP_001343374 Location (UCSC) Chr 1: 38.89 – 38.94 Mb Chr 4: 123.68 – 123.72 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene is a member of the rhomboid protease family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid-1. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases.

RHBDL2 functions as a sheddase and is localized to the plasma membrane.^[6] Known substrates of RHBDL2 include thrombomodulin and epidermal growth factor;^[6] profiling of the substrate repertoire of RHBDL2 has identified a number of additional type I membrane proteins substrates, including BCAM, SPINT1, and CLCP1.^[7]