RHBDF2
| Rhomboid 5 homolog 2 (Drosophila) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | RHBDF2 ; RHBDL5; RHBDL6; TEC; TOC; TOCG; iRhom2 | ||||||||||||
| External IDs | OMIM: 614404 MGI: 2442473 HomoloGene: 11612 GeneCards: RHBDF2 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| 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: 76.47 – 76.5 Mb |
Chr 11: 116.6 – 116.63 Mb | |||||||||||
| PubMed search | |||||||||||||
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.
References
- ↑ 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.
- ↑ "Entrez Gene: RHBDF2 rhomboid 5 homolog 2 (Drosophila)".
- ↑ 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.
- ↑ 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.
- ↑ 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. PMID 22550345.
- ↑ 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. doi:10.1126/science.1214400. PMID 22246777.
- ↑ 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. doi:10.1126/science.1214448. PMID 22246778.
- ↑ 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. PMID 22265016.
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. 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.
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