RHBDL2
Identifiers
AliasesRHBDL2, RRP2, rhomboid like 2
External IDsOMIM: 608962 MGI: 3608413 HomoloGene: 49508 GeneCards: RHBDL2
Orthologs
SpeciesHumanMouse
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 MbChr 4: 123.68 – 123.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000158315 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 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

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

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