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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, Sánchez LM, Overall CM, López-Otín C (Jul 2003). "Human and mouse proteases: a comparative genomic approach". Nature Reviews. Genetics 4 (7): 544–58. doi:10.1038/nrg1111. PMID 12838346. 
  2. ^ "Entrez Gene: RHBDF2 rhomboid 5 homolog 2 (Drosophila)". 
  3. ^ Lemberg MK, Freeman M (Nov 2007). "Functional and evolutionary implications of enhanced genomic analysis of rhomboid intramembrane proteases". Genome Research 17 (11). doi:10.1101/gr.6425307. PMID 17938163. 
  4. ^ Zettl M, Adrain C, Strisovsky K, Lastun V, Freeman M (Apr 2011). "Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling". Cell 145 (1). doi:10.1016/j.cell.2011.02.047. PMID 21439629. 
  5. ^ Siggs OM, Xiao N, Wang Y, Shi H, Tomisato W, Li X et al. (Jun 2012). "iRhom2 is required for the secretion of mouse TNFα". Blood 119 (24). doi:10.1182/blood-2012-03-417949. PMID 22550345. 
  6. ^ Adrain C, Zettl M, Christova Y, Taylor N, Freeman M (Jan 2012). "Tumor necrosis factor signaling requires iRhom2 to promote trafficking and activation of TACE". Science 335 (6065). doi:10.1126/science.1214400. PMID 22246777. 
  7. ^ McIlwain DR, Lang PA, Maretzky T, Hamada K, Ohishi K, Maney SK et al. (Jan 2012). "iRhom2 regulation of TACE controls TNF-mediated protection against Listeria and responses to LPS". Science 335 (6065). doi:10.1126/science.1214448. PMID 22246778. 
  8. ^ Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R et al. (Feb 2012). "RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome". American Journal of Human Genetics 90 (2). doi:10.1016/j.ajhg.2011.12.008. PMID 22265016. 

Further reading[edit]