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) [1] Band X|X A5 Start 49,984,057 bp [1] End 50,031,587 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon kidney myometrium smooth muscle tissue synovial membrane synovial joint ascending aorta metanephros liver fallopian 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 BioGPS 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 Species Human Mouse Entrez 90167 385354 Ensembl n/a ENSMUSG00000036131 UniProt Q6ZUT3 A2AD83 RefSeq (mRNA) NM_001306193 NM_194277 NM_001190332 RefSeq (protein) NP_001293122 NP_919253 NP_001177261 Location (UCSC) n/a Chr X: 49.98 – 50.03 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

FERM domain-containing protein 7 is a protein that in humans is encoded by the FRMD7 gene. ^{[4] [5] [6]}

References

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.
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.
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. PMC   2592600 . PMID   17013395.
6. "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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.434..325R. 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" (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.