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
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	76,501,790 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	116,517,845 bp[2]
RNA expression pattern
	Top expressed in
	monocyte; ; spleen; ; sural nerve; ; blood; ; lymph node; ; skin of abdomen; ; upper lobe of left lung; ; appendix; ; right lung; ; bone marrow cells;
	Top expressed in
	secondary oocyte; ; lip; ; bone marrow; ; spleen; ; left lung lobe; ; renal corpuscle; ; autopod region; ; knee joint; ; skeletal muscle tissue; ; foot;
	More reference expression data
	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
	79651
	217344
	ENSG00000129667
	ENSMUSG00000020806
	Q6PJF5
	Q80WQ6
	NM_001005498; NM_024599; NM_001376228; NM_001376229; NM_001376230
	NM_001167680; NM_172572
	NP_001005498; NP_078875; NP_001363157; NP_001363158; NP_001363159
	NP_001161152; NP_766160; NP_001390556; NP_001390557
	Wikidata
View/Edit Human	View/Edit Mouse

Rhomboid family member 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

GRCh38: Ensembl release 89: ENSG00000129667 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020806 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"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. PMC 3382936. 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. Bibcode:2012Sci...335..225A. doi:10.1126/science.1214400. PMC 3272371. 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. Bibcode:2012Sci...335..229M. doi:10.1126/science.1214448. PMC 4250273. 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. PMC 3276661. PMID 22265016.
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.

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000129667 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid12838346-5] 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.

[entrez-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.

[pmid25395669-13] 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.

RHBDF2

References

Further reading