FRMD7

FRMD7
Identifiers
Aliases	FRMD7 , NYS, NYS1, XIPAN, FERM domain containing 7
External IDs	OMIM: 300628 MGI: 2686379 HomoloGene: 18855 GeneCards: FRMD7
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	50,031,587 bp
RNA expression pattern
	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; ; quadriceps femoris muscle; ; hippocampus proper; ; yolk sac; ; ovary; ; esophagus; ; lip; ; hypothalamus; ; zone of skin; ; superior frontal gyrus;
	More reference expression data
	n/a
Gene ontology
Molecular function	molecular function ;
Cellular component	cell projection ; cytoskeleton ; neuron projection ; neuronal cell body ; 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

Last updated September 05, 2022

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

Related Research Articles

ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.

G-protein coupled receptor 143 is a protein encoded by the GPR143 gene in humans.

Acetylcholine receptor subunit epsilon is a protein that in humans is encoded by the CHRNE gene.

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.

Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.

Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.

Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.

Glutamate dehydrogenase pseudogene 5, also known as GLUDP5, is a human gene.

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.

Guanylyl cyclase-activating protein 1 is an enzyme that in humans is encoded by the GUCA1A gene.

HR is a gene encoding Protein hairless.

Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. It is also known as connexin 50.

Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.

Nance-Horan syndrome protein is a protein that in humans is encoded by the NHS gene.

Cytochrome c-type heme lyase is an enzyme that in humans is encoded by the HCCS gene on chromosome X.

Muscleblind-like protein 3 is a protein that in humans is encoded by the MBNL3 gene.

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.

Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.

References

1 2 3 GRCm38: 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. PMC 2592600 . 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. 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.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCm38Ensembl-1] 1 2 3 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. PMC 2592600 . PMID 17013395.

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

[1]

[2]

[3]

[4]

[5]

[6]

FRMD7

Contents

Related Research Articles

References

External links

Further reading