FRMD7

FRMD7
Identifiers
Aliases	FRMD7,NYS, NYS1, XIPAN, FERM domain containing 7
External IDs	OMIM:300628;MGI:2686379;HomoloGene:18855;GeneCards:FRMD7;OMA:FRMD7 - orthologs
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	50,031,587bp
RNA expressionpattern
	Top expressed in
	Achilles tendon; ; kidney; ; myometrium; ; smooth muscle tissue; ; synovial membrane; ; synovial joint; ; ascending aorta; ; metanephros; ; liver; ; uterine tube;
	Top expressed in
	olfactory bulb; ; embryo; ; dentate gyrus of hippocampal formation granule cell; ; Cortex of frontal lobe; ; quadriceps femoris muscle; ; hippocampus proper; ; tail of embryo; ; yolk sac; ; neural layer of retina; ; ovary;
	More reference expression data
	n/a
Gene ontology
Molecular function	molecular function;
Cellular component	cell projection; cytoskeleton; neuron projection; soma; growth cone; extracellular space;
Biological process	positive regulation of small GTPase mediated signal transduction; negative regulation of stress fiber assembly; positive regulation of lamellipodium assembly; negative regulation of protein binding; nervous system development; regulation of neuron projection development;
	Sources:Amigo/QuickGO
Orthologs
	90167
	385354
	n/a
	ENSMUSG00000036131
	Q6ZUT3
	A2AD83
	NM_001306193; NM_194277
	NM_001190332
	NP_001293122; NP_919253
	NP_001177261
	Wikidata
View/Edit Human	View/Edit Mouse

FERM domain-containing protein 7is aproteinthat inhumansis encoded by theFRMD7gene.^[4]^[5]^[6]

References

^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000036131–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.
^Gutmann DH, Brooks ML, Emanuel BS, McDonald-McGinn DM, Zackai EH (Aug 1991). "Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus".Am J Med Genet.39(2): 167–9.doi:10.1002/ajmg.1320390210.PMID 2063919.
^Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I (Oct 2006)."Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus (NYS1)".Nat Genet.38(11): 1242–4.doi:10.1038/ng1893.PMC2592600.PMID 17013395.
^"Entrez Gene: FRMD7 FERM domain containing 7".

External links

GeneReviews/NIH/NCBI/UW entry on FRMD7-Related Infantile Nystagmus

Cabot A, Rozet JM, Gerber S, et al. (2000)."A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3".Am. J. Hum. Genet.64(4): 1141–6.doi:10.1086/302324.PMC1377838.PMID 10090899.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences".Proc. Natl. Acad. Sci. U.S.A.99(26): 16899–903.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC139241.PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004)."Complete sequencing and characterization of 21,243 full-length human cDNAs".Nat. Genet.36(1): 40–5.doi:10.1038/ng1285.PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004)."The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)".Genome Res.14(10B): 2121–7.doi:10.1101/gr.2596504.PMC528928.PMID 15489334.
Ross MT, Grafham DV, Coffey AJ, et al. (2005)."The DNA sequence of the human X chromosome".Nature.434(7031): 325–37.Bibcode:2005Natur.434..325R.doi:10.1038/nature03440.PMC2665286.PMID 15772651.
Guo X, Li S, Jia X, et al. (2006)."Linkage analysis of two families with X-linked recessive congenital motor nystagmus".J. Hum. Genet.51(1): 76–80.doi:10.1007/s10038-005-0316-y.PMID 16240070.
Schorderet DF, Tiab L, Gaillard MC, et al. (2007)."Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online".Hum. Mutat.28(5): 525.doi:10.1002/humu.9492.PMID 17397053.
Zhang Q, Xiao X, Li S, Guo X (2007). "FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus".Mol. Vis.13:1375–8.PMID 17768376.
Self JE, Shawkat F, Malpas CT, et al. (2007)."Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus".Arch. Ophthalmol.125(9): 1255–63.doi:10.1001/archopht.125.9.1255.PMID 17846367.
Zhang B, Liu Z, Zhao G, et al. (2007). "Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus".Mol. Vis.13:1674–9.PMID 17893669.
Kaplan Y, Vargel I, Kansu T, et al. (2008)."Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene"(PDF).The British Journal of Ophthalmology.92(1): 135–41.doi:10.1136/bjo.2007.128157.hdl:11693/23235.PMID 17962394.S2CID 22918227.
Shiels A, Bennett TM, Prince JB, Tychsen L (2008). "X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7".Mol. Vis.13:2233–41.PMID 18087240.

This article on ageneon the humanX chromosomeand/or its associatedproteinis astub.You can help Wikipedia byexpanding it.

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000036131–Ensembl,May 2017

[2] "Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2063919-4] Gutmann DH, Brooks ML, Emanuel BS, McDonald-McGinn DM, Zackai EH (Aug 1991). "Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus".Am J Med Genet.39(2): 167–9.doi:10.1002/ajmg.1320390210.PMID 2063919.

[pmid17013395-5] Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I (Oct 2006)."Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus (NYS1)".Nat Genet.38(11): 1242–4.doi:10.1038/ng1893.PMC2592600.PMID 17013395.

[entrez-6] "Entrez Gene: FRMD7 FERM domain containing 7".

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References

External links

Further reading