FRMD7

FRMD7
Identifiers
Aliases	FRMD7, NYS, NYS1, XIPAN, FERM domain containing 7
External IDs	MGI: 2686379 HomoloGene: 18855 GeneCards: FRMD7
Gene ontology Molecular function • molecular function Cellular component • extracellular space • cell projection • cytoskeleton • neuron projection • neuronal cell body • growth cone 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
Species	Human	Mouse
Entrez	90167	385354
Ensembl	ENSG00000165694	ENSMUSG00000036131
UniProt	Q6ZUT3	A2AD83
RefSeq (mRNA)	NM_001306193 NM_194277	NM_001190332
RefSeq (protein)	NP_001293122.1 NP_919253.1	NP_001177261.1
Location (UCSC)	Chr X: 132.08 – 132.13 Mb	Chr X: 50.9 – 50.94 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

FERM domain-containing protein 7 is a protein that in humans is encoded by the FRMD7 gene.^[3][4][5]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. 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. PMC 2592600. PMID 17013395.
5. "Entrez Gene: FRMD7 FERM domain containing 7".

External links

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

Further reading

• 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. PMC 1377838. 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. doi:10.1073/pnas.242603899. PMC 139241. 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. PMC 528928. PMID 15489334.
• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. 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". The British journal of ophthalmology. 92 (1): 135–41. doi:10.1136/bjo.2007.128157. PMID 17962394.
• 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.