Property Summary

NCBI Gene PubMed Count 44
PubMed Score 75.59
PubTator Score 74.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.900 4.6e-31

Gene RIF (35)

PMID Text
26268155 We also demonstrated abnormal developments of afferent system in patients with FRMD7 mutations using optical coherence tomography, which may help to understand the etiological factor in development of nystagmus
25916882 a novel mutation c.556A>G (p.M186V) in the gene FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family
25678693 We investigated the role of mutations and copy number variations (CNV) of FRMD7 and GPR143 in the molecular pathogenesis of IIN in 49 unrelated Belgian probands.
24688117 Abnormal retinal development is associated with FRMD7 mutations.
24513357 A nonsense mutation (R335X) in the FRMD7 gene was identified in 4 male patients and an asymptomatic female member.
24434814 we report three novel mutations in FRMD7 in three independent families with XLICN, and provide molecular insights for future XLICN diagnosis and treatment.
24169426 this study adds a novel mutation (p.I240T) to the existing spectrum of FRMD7 mutations with Congenital, X-Linked Nystagmus.
23967341 FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signaling.
23946638 the identified FRMD7 mutant influences GTPase Rac1 signaling, which regulates neurite development.
23733424 Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.
23406872 a model whereby CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and that defects in this interaction result in nystagmus.
22490987 A novel missense mutation, c.A917G, was found in family members with congenital nystagmus.
22262942 A novel splicing mutation, (c.163-1 G>T), was detected in the region preceding exon 3 of FRMD7 in a Chinese family patients with X-linked congenital nystagmus.
22128244 A novel splice variant of FRMD7 (FRMD7-S) with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL) was identified from the cDNA of the human NT2 cell line and mouse fetal brain.
22065930 A previously unreported 4 base-pair deletion in the FRMD7 gene (c.1486-1489 del. TTTT) that causes X-linked idiopathic congenital nystagmus has been identified in a Chinese family.
21746984 Clinicians can use the OKN drum to assess obligate female carriers in a family suspected of having X-linked nystagmus.
21386928 FRMD7 may play an important role in the brainstem in the early stages of development of the human fetal brain, and provides clues for the mechanism of mutation FRMD7, which may be involved in influencing F-actin dynamics.
21365021 identified a novel mutation, c. 623A>G (p. H208R) in the FRMD7 gene, in a Han Chinese family with infantile nystagmus
21303855 This study showed that mutations in FRMD7 can cause idiopathic infantile periodic alternating nystagmus and may affect neuronal circuits that have been implicated in acquired forms.
21220551 Differences in nystagmus characteristics associated with albinism and those associated with FRMD7 mutations leading to idiopathic infantile nystagmus are described for the first-time
20450309 Here we show for the first time that large intragenic deletions of FRMD7 can also cause this form of nystagmus.
19892780 FRMD7 expression is spatially and temporally regulated in human and mouse brain during embryonic and fetal development.
19072571 identified a novel frameshift mutation (c.1274-1275delTG) in the FRMD7 gene in six X-linked idiopathic congenital nystagmus pedigrees in China
18431453 This is first report that five kinds of FRMD7 gene mutation types occurred in Chinese families with Infantile nystagmus (IN), which further support that FRMD7 gene mutations are the underlying pathogenesis of the molecular mechanism for IN.
18372314 Observational study of gene-disease association. (HuGE Navigator)
18247295 The mutation of G990T of the FRMD7 gene is the underlying molecular pathogenesis for a family with congenital nystagmus.
18246032 Sequencing FRMD7 revealed a G>T transversion (c.812G>T) in exon 9, which caused a conservative substitution of Cys to Phe at codon 271 (p.C271F).
18087240 The c.425T>G change is predicted to result in the missense substitution of the leucine at codon 142 for an arginine (p.L142R), and supports a causative role for FRMD7 mutations in the pathogenesis of X-linked idiopathic infantile nystagmus.
17962394 A novel p.R229G missense mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females.
17893669 Mutation screening in the FRMD7 gene identified two novel missense mutations (c.781C>G and c.886G>C) and one reported nonsense mutation (c.1003C>T).
17846367 We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations
17768376 These results provide additional evidence for mutations in FRMD7 as a common cause of X-linked congenital motor nystagmus and expand its mutation spectrum.
17397053 report of five novel mutations in FRMD7 and confirm the role of this gene in the pathogenesis of X-linked congenital nystagmus
17013395 Restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.
16240070 X-linked recessive congenital motor nystagmus mapped to a region overlapped with that for X-linkaged dominant form.

AA Sequence

MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCSHLNLAEKEYFGLEFCSHSGNNVWLELLKPITKQVKNP      1 - 70
KEIVFKFMVKFFPVDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTALMVSHILQSELGDFHEETDRK     71 - 140
HLAQTRYLPNQDCLEGKIMHFHQKHIGRSPAESDILLLDIARKLDMYGIRPHPASDGEGMQIHLAVAHMG    141 - 210
VLVLRGNTKINTFNWAKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRL    211 - 280
SEEPKSKPKTLLCSKGSSFRYSGRTQRQLLEYGRKGRLKSLPFERKHYPSQYHERQCRSSPDLLSDVSKQ    281 - 350
VEDLRLAYGGGYYQNVNGVHASEPVLESRRRNSALEVTFATELEHSKPEADPTLLHQSQSSSSFPFIYMD    351 - 420
PVFNTEPNPNPDPRDIFSERSSLSSFQTSCKFSGNHMSIYSGLTSKVRPAKQLTYTDVPYIPCTGQQVGI    421 - 490
MPPQVFFYVDKPPQVPRWSPIRAEERTSPHSYVEPTAMKPAERSPRNIRMKSFQQDLQVLQEAIARTSGR    491 - 560
SNINVGLEEEDPNLEDAFVCNIQEQTPKRSQSQSDMKTIRFPFGSEFRPLGPCPALSHKADLFTDMFAEQ    561 - 630
ELPAVLMDQSTAERYVASESSDSESEILKPDYYALYGKEIRSPMARIRLSSGSLQLDEEDEDAYFNTPTA    631 - 700
EDRTSLKPCNYFLA                                                            701 - 714
//

Text Mined References (43)

PMID Year Title
26268155 2015 A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus.
25916882 2015 A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family.
25678693 2015 Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
24688117 2014 Abnormal retinal development associated with FRMD7 mutations.
24513357 2014 Heterogeneous phenotype in a family with the FERM domain-containing 7 gene R335X mutation.
24434814 2014 Identification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus.
24169426 2013 Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.
23967341 2013 FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signaling.
23946638 2013 A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family.
23733424 2013 Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.
23406872 2013 A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
22490987 2012 Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
22262942 2012 A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus.
22128244 2011 Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation.
22065930 2011 A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family.
21746984 2011 Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.
21386928 2011 Expression and localization of FRMD7 in human fetal brain, and a role for F-actin.
21365021 2011 Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus.
21303855 2011 The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
21220551 2011 Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus.
20450309 2010 Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.
19892780 2010 The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.
19072571 2008 A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.
18431453 2008 Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.
18372314 2008 Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
18247295 2008 [The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus].
18246032 2008 A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
18087240 2007 X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17962394 2008 Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.
17893669 2007 Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
17846367 2007 Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.
17768376 2007 FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.
17397053 2007 Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
17013395 2006 Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
16240070 2006 Linkage analysis of two families with X-linked recessive congenital motor nystagmus.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10090899 1999 A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.
2063919 1991 Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.