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Rhomboid 5 homolog 2 (Drosophila)
External IDs OMIM614404 MGI2442473 HomoloGene11612 GeneCards: RHBDF2 Gene
RNA expression pattern
PBB GE RHBDF2 219202 at tn.png
More reference expression data
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]

The RHBDF2 gene is located at on the long arm of chromosome 17 (17q25.1) on the Crick (minus) strand. It is 30.534 kilobases in length and encodes a protein of 856 amino acids with a predicted molecular weight of 96.686 kiloDaltons.

The RHBDF2 protein plays 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]

It is involved in the regulation of the secretion of several ligands of the epidermal growth factor receptor.


  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.

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