RHBDF2
| Rhomboid 5 homolog 2 (Drosophila) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | RHBDF2 ; RHBDL5; RHBDL6; TOC; TOCG | ||||||||||||
| External IDs | OMIM: 614404 MGI: 2442473 HomoloGene: 11612 GeneCards: RHBDF2 Gene | ||||||||||||
| |||||||||||||
| RNA expression pattern | |||||||||||||
 | |||||||||||||
| 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 | |||||||||||||
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. Vancouver style error (help)
- ↑ "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). doi:10.1101/gr.6425307. 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). doi:10.1016/j.cell.2011.02.047. PMID 21439629.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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
- Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J et al. (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. Vancouver style error (help)
- Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W et al. (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.