RHBDF2

RHBDF2
Identifiers
Aliases	RHBDF2 , RHBDL5, RHBDL6, TOC, TOCG, TEC, iRhom2, rhomboid 5 homolog 2
External IDs	OMIM: 614404; MGI: 2442473; HomoloGene: 11612; GeneCards: RHBDF2; OMA:RHBDF2 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q25.1 Start 76,470,891 bp [1] End 76,501,790 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 E2 Start 116,488,991 bp [2] End 116,517,845 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte monocyte spleen sural nerve blood lymph node skin of leg skin of abdomen upper lobe of left lung C1 segment Top expressed in granulocyte secondary oocyte lip muscle of thigh bone marrow mesenteric lymph nodes spleen zygote primary oocyte left lung lobe More reference expression data BioGPS More reference expression data
Gene ontology Molecular function serine-type endopeptidase activity growth factor binding protein binding peptidase activity hydrolase activity Cellular component integral component of membrane endoplasmic reticulum membrane plasma membrane endoplasmic reticulum membrane Biological process protein transport protein processing regulation of epidermal growth factor receptor signaling pathway proteolysis regulation of protein secretion negative regulation of protein secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79651 217344 Ensembl ENSG00000129667 ENSMUSG00000020806 UniProt Q6PJF5 Q80WQ6 RefSeq (mRNA) NM_001005498 NM_024599 NM_001376228 NM_001376229 NM_001376230 NM_001167680 NM_172572 RefSeq (protein) NP_001005498 NP_078875 NP_001363157 NP_001363158 NP_001363159 NP_001161152 NP_766160 NP_001390556 NP_001390557 Location (UCSC) Chr 17: 76.47 – 76.5 Mb Chr 11: 116.49 – 116.52 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Inactive rhomboid protein 2 is a protein that in humans is encoded by the RHBDF2 gene. ^{[5] [6]} 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. ^{[7] [8]}

The RHBDF2 gene is located 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 an important role in the secretion of tumor necrosis factor alpha, ^{[9] [10] [11]} and has also been implicated in familial esophageal cancer. ^[12]

It is involved in the regulation of the secretion of several ligands of the epidermal growth factor receptor. ^[13]

References

1. GRCh38: Ensembl release 89: ENSG00000129667 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020806 – 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. 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. S2CID   2856065.
6. "Entrez Gene: RHBDF2 rhomboid 5 homolog 2 (Drosophila)".
7. Lemberg MK, Freeman M (Nov 2007). "Functional and evolutionary implications of enhanced genomic analysis of rhomboid intramembrane proteases". Genome Research. 17 (11): 1634–46. doi:10.1101/gr.6425307. PMC   2045146 . PMID   17938163.
8. 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): 79–91. doi:10.1016/j.cell.2011.02.047. PMC   3149277 . PMID   21439629.
9. Siggs OM, Xiao N, Wang Y, Shi H, Tomisato W, Li X, Xia Y, Beutler B (Jun 2012). "iRhom2 is required for the secretion of mouse TNFα". Blood. 119 (24): 5769–71. doi:10.1182/blood-2012-03-417949. PMC   3382936 . PMID   22550345.
10. 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): 225–8. Bibcode:2012Sci...335..225A. doi:10.1126/science.1214400. PMC   3272371 . PMID   22246777.
11. McIlwain DR, Lang PA, Maretzky T, Hamada K, Ohishi K, Maney SK, Berger T, Murthy A, Duncan G, Xu HC, Lang KS, Häussinger D, Wakeham A, Itie-Youten A, Khokha R, Ohashi PS, Blobel CP, Mak TW (Jan 2012). "iRhom2 regulation of TACE controls TNF-mediated protection against Listeria and responses to LPS". Science. 335 (6065): 229–32. Bibcode:2012Sci...335..229M. doi:10.1126/science.1214448. PMC   4250273 . PMID   22246778.
12. Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP (Feb 2012). "RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome". American Journal of Human Genetics. 90 (2): 340–6. doi:10.1016/j.ajhg.2011.12.008. PMC   3276661 . PMID   22265016.
13. Siggs OM, Grieve A, Xu H, Bambrough P, Christova Y, Freeman M (November 2014). "Genetic interaction implicates iRhom2 in the regulation of EGF receptor signalling in mice". Biol Open. 3 (12): 1151–7. doi:10.1242/bio.201410116. PMC   4265752 . PMID   25395669.

Further reading

• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (Sep 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC   515316 . PMID   15342556.
• Puente XS, López-Otín C (Apr 2004). "A genomic analysis of rat proteases and protease inhibitors". Genome Research. 14 (4): 609–22. doi:10.1101/gr.1946304. PMC   383305 . PMID   15060002.
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (Mar 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi: 10.1073/pnas.97.7.3491 . PMC   16267 . PMID   10737800.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.