RHBDF2

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Rhomboid 5 homolog 2 (Drosophila)
Identifiers
Symbols RHBDF2 ; RHBDL5; RHBDL6; TOC
External IDs OMIM614404 MGI2442473 HomoloGene11612 GeneCards: RHBDF2 Gene
RNA expression pattern
PBB GE RHBDF2 219202 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 79651 217344
Ensembl ENSG00000129667 ENSMUSG00000020806
UniProt Q6PJF5 Q80WQ6
RefSeq (mRNA) NM_001005498 NM_001167680
RefSeq (protein) NP_001005498 NP_001161152
Location (UCSC) Chr 17:
74.47 – 74.5 Mb
Chr 11:
116.6 – 116.63 Mb
PubMed search [1] [2]

Rhomboid family member 2 is a protein that in humans is encoded by the RHBDF2 gene.[1][2] The alternative name iRhom2 has been proposed, in order to clarify that it is a catalytically inactive member of the rhomboid family of intramembrane serine proteases.[3][4]

iRhom2 plays an important role in the secretion of tumor necrosis factor alpha,[5][6][7] and has also been implicated in familial esophageal cancer.[8]


References[edit]

  1. ^ Puente XS, Sanchez LM, Overall CM, Lopez-Otin C (Jul 2003). "Human and mouse proteases: a comparative genomic approach". Nat Rev Genet 4 (7): 544–58. doi:10.1038/nrg1111. PMID 12838346. 
  2. ^ "Entrez Gene: RHBDF2 rhomboid 5 homolog 2 (Drosophila)". 
  3. ^ M. K. Lemberg, M. Freeman, Genome Res. 17, 1634 (2007)
  4. ^ M. Zettl, C. Adrain, K. Strisovsky, V. Lastun, M. Freeman, Cell 145, 79 (2011)
  5. ^ Siggs, O.M., Xiao, N., Wang, Y., Shi, H., Tomisato, W., Li, X., Xia, Y., and Beutler, B. (2012). iRhom2 is required for the secretion of mouse TNFα. Blood 119, 5769–5771.
  6. ^ Adrain, C., Zettl, M., Christova, Y., Taylor, N., and Freeman, M. (2012). Tumor necrosis factor signaling requires iRhom2 to promote trafficking and activation of TACE. Science 335, 225–228.
  7. ^ McIlwain, D.R., Lang, P.A., Maretzky, T., Hamada, K., Ohishi, K., Maney, S.K., Berger, T., Murthy, A., Duncan, G., Xu, H.C., et al. (2012). iRhom2 regulation of TACE controls TNF-mediated protection against Listeria and responses to LPS. Science 335, 229–232.
  8. ^ Blaydon, D.C., Etheridge, S.L., Risk, J.M., Hennies, H.-C., Gay, L.J., Carroll, R., Plagnol, V., McRonald, F.E., Stevens, H.P., Spurr, N.K., et al. (2012). RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome. Am J Hum Genet 90, 340–346.

Further reading[edit]