MCF2L

MCF2L
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1KZ7, 1KZG, 1LB1, 1RJ2
Identifiers
Aliases	MCF2L, ARHGEF14, DBS, OST, MCF.2 cell line derived transforming sequence like
External IDs	MGI: 103263 HomoloGene: 11804 GeneCards: MCF2L
Genetically Related Diseases
osteoarthritis/osteodystrophy[1]
Gene ontology Molecular function • phosphatidylinositol binding • lipid binding • guanyl-nucleotide exchange factor activity • Rho guanyl-nucleotide exchange factor activity Cellular component • cytoplasm • extracellular fluid • extrinsic component of cytoplasmic side of plasma membrane • cytosol • plasma membrane • membrane • endomembrane system Biological process • positive regulation of Rho protein signal transduction • regulation of Rho protein signal transduction • intracellular signal transduction • regulation of small GTPase mediated signal transduction • positive regulation of apoptotic process • positive regulation of GTPase activity Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	23263	17207
Ensembl	ENSG00000126217	ENSMUSG00000031442
UniProt	O15068	Q64096
RefSeq (mRNA)	NM_001112732 NM_024979 NM_001320815 NM_001320816 NM_001320817	NM_001159485 NM_001159486 NM_178076
RefSeq (protein)	NP_001106203.2 NP_079255.4 NP_001307744.1 NP_001307745.1 NP_001307746.1	n/a
Location (UCSC)	Chr 13: 112.89 – 113.1 Mb	Chr 8: 12.87 – 13.02 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

Guanine nucleotide exchange factor DBS is a protein that in humans is encoded by the MCF2L gene.^[4][5]

Model organisms

Model organisms have been used in the study of MCF2L function. A conditional knockout mouse line called Mcf2l^{tm1a(EUCOMM)Hmgu} was generated at the Wellcome Trust Sanger Institute.^[6] Male and female animals underwent a standardized phenotypic screen^[7] to determine the effects of deletion.^{[8][9][10][11]} Additional screens performed: - In-depth immunological phenotyping^[12]

Mcf2l knockout mouse phenotype

Characteristic	Phenotype
All data available at.[7][12]
Insulin	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Salmonella infection	Normal

References

1. "Diseases that are genetically associated with MCF2L view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Apr 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
5. "Entrez Gene: MCF2L MCF.2 cell line derived transforming sequence-like".
6. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
7. "International Mouse Phenotyping Consortium".
8. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
9. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
10. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
11. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
12. "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

• Horii Y, Beeler JF, Sakaguchi K, Tachibana M, Miki T (Oct 1994). "A novel oncogene, ost, encodes a guanine nucleotide exchange factor that potentially links Rho and Rac signaling pathways". The EMBO Journal. 13 (20): 4776–86. PMC 395416. PMID 7957046.
• Rossman KL, Worthylake DK, Snyder JT, Siderovski DP, Campbell SL, Sondek J (Mar 2002). "A crystallographic view of interactions between Dbs and Cdc42: PH domain-assisted guanine nucleotide exchange". The EMBO Journal. 21 (6): 1315–26. doi:10.1093/emboj/21.6.1315. PMC 125919. PMID 11889037.
• Snyder JT, Worthylake DK, Rossman KL, Betts L, Pruitt WM, Siderovski DP, Der CJ, Sondek J (Jun 2002). "Structural basis for the selective activation of Rho GTPases by Dbl exchange factors". Nature Structural Biology. 9 (6): 468–75. doi:10.1038/nsb796. PMID 12006984.
• Yamauchi J, Hirasawa A, Miyamoto Y, Kokubu H, Nishii H, Okamoto M, Sugawara Y, Tsujimoto G, Itoh H (Aug 2002). "Role of Dbl's big sister in the anti-mitogenic pathway from alpha1B-adrenergic receptor to c-Jun N-terminal kinase". Biochemical and Biophysical Research Communications. 296 (1): 85–92. doi:10.1016/S0006-291X(02)00839-2. PMID 12147231.
• Wennerberg K, Ellerbroek SM, Liu RY, Karnoub AE, Burridge K, Der CJ (Dec 2002). "RhoG signals in parallel with Rac1 and Cdc42". The Journal of Biological Chemistry. 277 (49): 47810–7. doi:10.1074/jbc.M203816200. PMID 12376551.
• Cheng L, Mahon GM, Kostenko EV, Whitehead IP (Mar 2004). "Pleckstrin homology domain-mediated activation of the rho-specific guanine nucleotide exchange factor Dbs by Rac1". The Journal of Biological Chemistry. 279 (13): 12786–93. doi:10.1074/jbc.M313099200. PMID 14701795.
• Ueda S, Kataoka T, Satoh T (Aug 2004). "Role of the Sec14-like domain of Dbl family exchange factors in the regulation of Rho family GTPases in different subcellular sites". Cellular Signalling. 16 (8): 899–906. doi:10.1016/j.cellsig.2004.01.007. PMID 15157669.
• Kostenko EV, Mahon GM, Cheng L, Whitehead IP (Jan 2005). "The Sec14 homology domain regulates the cellular distribution and transforming activity of the Rho-specific guanine nucleotide exchange factor Dbs". The Journal of Biological Chemistry. 280 (4): 2807–17. doi:10.1074/jbc.M411139200. PMID 15531584.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Ieguchi K, Ueda S, Kataoka T, Satoh T (Aug 2007). "Role of the guanine nucleotide exchange factor Ost in negative regulation of receptor endocytosis by the small GTPase Rac1". The Journal of Biological Chemistry. 282 (32): 23296–305. doi:10.1074/jbc.M700950200. PMID 17562712.