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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) Band 1p34.3 Start 38,885,807 bp End 38,941,830 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 D2.2 Start 123,681,667 bp End 123,723,697 bp
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
Wikidata
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Rhomboid-related protein 2 is a protein that in humans is encoded by the RHBDL2 gene.

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. Known substrates of RHBDL2 include thrombomodulin and epidermal growth factor; profiling of the substrate repertoire of RHBDL2 has identified a number of additional type I membrane proteins substrates, including BCAM, SPINT1, and CLCP1.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000158315 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000043333 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Rhomboid, veinlet-like 2 (Drosophila)".
6. ^ Lichtenthaler SF, Lemberg MK, Fluhrer R (August 2018). "Proteolytic ectodomain shedding of membrane proteins in mammals-hardware, concepts, and recent developments". The EMBO Journal. 37 (15). doi:10.15252/embj.201899456. PMC 6068445. PMID 29976761.
7. Johnson N, Březinová J, Stephens E, Burbridge E, Freeman M, Adrain C, Strisovsky K (August 2017). "Quantitative proteomics screen identifies a substrate repertoire of rhomboid protease RHBDL2 in human cells and implicates it in epithelial homeostasis". Scientific Reports. 7 (1): 7283. Bibcode:2017NatSR...7.7283J. doi:10.1038/s41598-017-07556-3. PMC 5544772. PMID 28779096.

Further reading

• Adrain C, Strisovsky K, Zettl M, Hu L, Lemberg MK, Freeman M (May 2011). "Mammalian EGF receptor activation by the rhomboid protease RHBDL2". EMBO Reports. 12 (5): 421–7. doi:10.1038/embor.2011.50. PMC 3090019. PMID 21494248.
• Pascall JC, Brown KD (April 2004). "Intramembrane cleavage of ephrinB3 by the human rhomboid family protease, RHBDL2". Biochemical and Biophysical Research Communications. 317 (1): 244–52. doi:10.1016/j.bbrc.2004.03.039. PMID 15047175.
• Cheng TL, Wu YT, Lin HY, Hsu FC, Liu SK, Chang BI, et al. (December 2011). "Functions of rhomboid family protease RHBDL2 and thrombomodulin in wound healing". The Journal of Investigative Dermatology. 131 (12): 2486–94. doi:10.1038/jid.2011.230. PMID 21833011.
• Xu J, Zheng SL, Isaacs SD, Wiley KE, Wiklund F, Sun J, et al. (February 2010). "Inherited genetic variant predisposes to aggressive but not indolent prostate cancer". Proceedings of the National Academy of Sciences of the United States of America. 107 (5): 2136–40. Bibcode:2010PNAS..107.2136X. doi:10.1073/pnas.0914061107. PMC 2836698. PMID 20080650.
• Urban S, Freeman M (June 2003). "Substrate specificity of rhomboid intramembrane proteases is governed by helix-breaking residues in the substrate transmembrane domain". Molecular Cell. 11 (6): 1425–34. doi:10.1016/s1097-2765(03)00181-3. PMID 12820957.
• Urban S, Lee JR, Freeman M (October 2001). "Drosophila rhomboid-1 defines a family of putative intramembrane serine proteases". Cell. 107 (2): 173–82. doi:10.1016/s0092-8674(01)00525-6. PMID 11672525. S2CID 9026083.
• Lei X, Li YM (December 2009). "The processing of human rhomboid intramembrane serine protease RHBDL2 is required for its proteolytic activity". Journal of Molecular Biology. 394 (5): 815–25. doi:10.1016/j.jmb.2009.10.025. PMID 19850051.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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