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 0.000

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.
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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.
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