Property Summary

NCBI Gene PubMed Count 26
PubMed Score 18.75
PubTator Score 19.66

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
osteosarcoma -3.411 1.4e-06
group 4 medulloblastoma 2.500 1.7e-04
cystic fibrosis -3.114 5.2e-06
atypical teratoid / rhabdoid tumor 1.700 8.0e-04
medulloblastoma, large-cell 2.300 2.3e-07
non-small cell lung cancer -1.780 2.4e-23
intraductal papillary-mucinous adenoma (... 2.100 8.9e-04
intraductal papillary-mucinous carcinoma... 1.600 6.6e-03
aldosterone-producing adenoma -1.682 3.2e-03
lung adenocarcinoma -1.600 4.7e-11
psoriasis -1.200 1.1e-09
Endometriosis -1.084 4.5e-02
Pick disease 1.500 8.1e-06
Breast cancer -1.100 2.4e-07
gastric carcinoma -1.600 1.8e-02
mucosa-associated lymphoid tissue lympho... 1.140 1.4e-02
ductal carcinoma in situ -1.200 6.6e-04
invasive ductal carcinoma -1.800 4.2e-04

Gene RIF (13)

PMID Text
26400421 identified two different pairs of novel compound heterozygous mutations in the FGD4 gene from nonconsanguineous Korean Charcot-Marie-Tooth disease type 4H families
23550889 Our results suggest that FGD4 should be screened in other early-onset CMT subtypes, regardless of the severity of the phenotype, and particularly in patients of consanguineous descent.
22843789 A single nucleotide polymorphism in FGD4 was associated with the onset of paclitaxel-induced sensory peripheral neuropathy.
22734899 we have identified two novel missense mutations in FGD4 in two patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease
22589722 LMP1, through its transmembrane domains, directly bound FGD4 and enhanced FGD4 activity toward Cdc42, leading to actin cytoskeleton rearrangement and increased motility of NPC cells.
22295116 susceptibility genes associated with alcohol drinking
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19494521 differentialy expressed in dendritic cells upon stimulation of with with the major house dust mite allergen Der p 1
19332693 Genetic heterogeneity of FGD4 demonstrates that CMT4H has variable functional impairment and suggests that frabin plays a crucial role during myelin formation.
19221294 A novel homozygous Frabin (FGD4) nonsense mutation p.R275X is identified in a family with Charcot-Marie Tooth disease (CMT4H) from Northern Ireland.
17564972 We report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy.
17564959 The identification of mutations in FGD4, encoding FGD4 or FRABIN (FGD1-related F-actin binding protein), in families with Charcot-Marie-Tooth type 4H.
15133042 role of frabin, a guanine nucleotide exchange factor specific for Cdc42, in the activation of Cdc42 during Cryptosporidium parvum infection of biliary epithelial cells

AA Sequence

MEEIKPASASCVSKEKPSKVSDLISRFEGGSSLSNYSDLKKESAVNLNAPRTPGRHGLTTTPQQKLLSQH      1 - 70
LPQRQGNDTDKTQGAQTCVANGVMAAQNQMECEEEKAATLSSDTSIQASEPLLDTHIVNGERDETATAPA     71 - 140
SPTTDSCDGNASDSSYRTPGIGPVLPLEERGAETETKVQERENGESPLELEQLDQHHEMKETNEQKLHKI    141 - 210
ANELLLTERAYVNRLDLLDQVFYCKLLEEANRGSFPAEMVNKIFSNISSINAFHSKFLLPELEKRMQEWE    211 - 280
TTPRIGDILQKLAPFLKMYGEYVKGFDNAMELVKNMTERIPQFKSVVEEIQKQKICGSLTLQHHMLEPVQ    281 - 350
RIPRYEMLLKDYLRKLPPDSLDWNDAKKSLEIISTAASHSNSAIRKMENLKKLLEIYEMLGEEEDIVNPS    351 - 420
NELIKEGQILKLAARNTSAQERYLFLFNNMLLYCVPKFSLVGSKFTVRTRVGIDGMKIVETQNEEYPHTF    421 - 490
QVSGKERTLELQASSAQDKEEWIKALQETIDAFHQRHETFRNAIAKDNDIHSEVSTAELGKRAPRWIRDN    491 - 560
EVTMCMKCKEPFNALTRRRHHCRACGYVVCWKCSDYKAQLEYDGGKLSKVCKDCYQIISGFTDSEEKKRK    561 - 630
GILEIESAEVSGNSVVCSFLQYMEKSKPWQKAWCVIPKQDPLVLYMYGAPQDVRAQATIPLLGYVVDEMP    631 - 700
RSADLPHSFKLTQSKSVHSFAADSEELKQKWLKVILLAVTGETPGGPNEHPATLDDHPEPKKKSEC        701 - 766
//

Text Mined References (25)

PMID Year Title
26400421 2015 Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23550889 2013 A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
22843789 2012 A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.
22734899 2012 Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
22589722 2012 Epstein-Barr virus-encoded LMP1 interacts with FGD4 to activate Cdc42 and thereby promote migration of nasopharyngeal carcinoma cells.
22295116 2012 Genome-wide association study of copy number variants suggests LTBP1 and FGD4 are important for alcohol drinking.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19494521 2009 Differential protein expression by dendritic cells from atopic and non-atopic individuals after stimulation by the major house dust mite allergen Der p 1.
19332693 2009 Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.
19221294 2009 A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17564972 2007 Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
17564959 2007 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
15744041 2005 Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.
15133042 2004 Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12787561 Ten years on: mediation of cell death by the common neurotrophin receptor p75(NTR).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12376548 2002 NRAGE, a p75 neurotrophin receptor-interacting protein, induces caspase activation and cell death through a JNK-dependent mitochondrial pathway.
11756498 2002 Activation of Rac GTPase by p75 is necessary for c-jun N-terminal kinase-mediated apoptosis.
11527409 2001 Identification of splicing variants of Frabin with partly different functions and tissue distribution.
11429692 2001 Cooperation of Cdc42 small G protein-activating and actin filament-binding activities of frabin in microspike formation.
9668039 1998 Frabin, a novel FGD1-related actin filament-binding protein capable of changing cell shape and activating c-Jun N-terminal kinase.