Property Summary

NCBI Gene PubMed Count 61
PubMed Score 95.02
PubTator Score 113.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Obesity 616 0.0 2.0
Rheumatoid Arthritis 1170 0.0 2.0
Disease Target Count Z-score Confidence
Polyneuropathy 30 3.677 1.8

Expression

  Differential Expression (19)

Disease log2 FC p
malignant mesothelioma -1.700 1.1e-06
astrocytic glioma -1.500 3.0e-02
glioblastoma -2.600 3.0e-05
posterior fossa group A ependymoma -1.700 2.8e-11
atypical teratoid / rhabdoid tumor -2.800 1.3e-05
medulloblastoma -1.100 3.8e-03
medulloblastoma, large-cell -1.400 2.0e-04
juvenile dermatomyositis 1.171 1.1e-08
acute quadriplegic myopathy 1.633 6.0e-08
intraductal papillary-mucinous adenoma (... -1.100 3.7e-02
intraductal papillary-mucinous neoplasm ... -1.800 4.3e-02
lung cancer 2.300 2.3e-04
adult high grade glioma -2.400 2.2e-06
pilocytic astrocytoma -1.400 1.6e-06
subependymal giant cell astrocytoma -1.023 1.6e-02
lung carcinoma 3.100 2.0e-43
Alzheimer's disease -1.600 2.3e-02
Pick disease -1.800 1.1e-04
ovarian cancer -2.700 3.5e-08

Pathway (1)

Gene RIF (41)

PMID Text
26525999 This study suggest GDAP1 as the first gene that should be analysed in Italian patients affected by CMT2.
25429913 The novelty of our data is the relatively high frequency of SH3TC2 and GDAP1 mutations in demyelinating and axonal forms, respectively, of Charcot-Marie-Tooth disease
25337607 study reports on 2 Charcot-Marie-Tooth (CMT) families in which a newly identified Glu222Lys mutation within the GDAP1 gene segregates both in autosomal dominant and recessive traits
25168384 Results show that JPH1 and GDAP1 share a common pathway and depend on each other; therefore, JPH1 can contribute to the phenotypical consequences of GDAP1 mutations.
23628762 GDAP1 regulates mitochondrial and peroxisomal fission by a similar mechanism.
23542510 This studies suggest that the pathophysiology of GDAP1-related CMT neuropathies may be associated with abnormal distribution and movement of mitochondria throughout cytoskeleton towards the ER and subplasmalemmal microdomains.
23456260 GDAP1-associated polyneuropathy caused predominantly a mild and slowly progressive phenotype.
23147504 This study suggested that the mutation of GDAP1 cased onion bulb-like formations of schwann cell in peripheral neuropathies.
22971097 A novel heterozygous missense mutation (Arg120Gly) in the GDAP1 gene co-segregates with the disease within the pedigree of an Italian Charcot-Marie-Tooth disease type 2 (CMT2) family.
22546700 A French family with Charcot-Marie-Tooth disease is related to simultaneous heterozygous MFN2 and GDAP1 mutations.
21965300 Patients of type 4 Charcot-Marie-Tooth disease showed reduced GDAP1 levels, GHS concentration and mitochondrial membrane potential.
21890626 Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells
21753178 We show that patients with dominant GDAP1 mutations may display clear axonal Charcot-Marie-Tooth disease
21692914 we report two recessive intermediate Charcot-Marie-Tooth (RI-CMT) patients with GDAP1 missense mutations
21365284 Clinical outcome of Charcot-Marie-Tooth disease caused by mutations in the GDAP1 gene cannot be predicted solely on the basis of genetic results (missense/nonsense mutations).
21199105 An p.R120W mutation has been identified in GDAP1 causing autosomal dominant Charcot-Marie-Tooth disease with a wide clinical profile.
20849849 This review provide that Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
20685671 A mutations frquency of 27% in the GST domain of GDAP1 in the dominant form of axonal Charcot Marie Tooth type 2K was observed.
20232219 Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype associated with the third recurrent GDAP1 mutation having a common origin in European population was characterized.
19837996 Thirty sequence variants have been found in the analysed genes from patients with Charcot-Marie-Tooth disorders: 5 pathogenic mutations in the GDAP1 gene and 2 pathogenic mutations in the PRX gene.
19782751 different cellular mechanisms that disturb mitochondrial dynamics underlie the similar clinical manifestations caused by GDAP1 mutations, depending on the mode of inheritance
19720140 GDAP1 is broadly expressed in cancer cell lines of different tissue origin. There is a consensus YY1 binding site in the GDAP1 core promoter.
19500985 GDAP1 mutations should be considered both in recessive and sporadic cases of early-onset axonal Charcot-Marie-Tooth disease
19381883 Data report a novel missense mutation and two polymorphisms in the ganglioside-induced differentiation-associated protein 1 gene identified in a five generation Turkish family with autosomal recessive Charcot-Marie-Tooth type 2.
19340293 this GDAP1 region contains critical overlapping motifs defining intracellular targeting by the tail anchor domain concomitant with functional aspects
19089472 Data suggest that besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume.
18991200 clinical, electrophysiologic & genetic study of 2 patients with missense GDAP1 mutations with severe neuropathy; 1 mutation (Tyr279Cys) has not been reported before; despite similitude of mutations & electromyography, clinical course was different
18504680 Data show that the mutations in the GDAP1 gene are a common cause of early-onset Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT).
18492089 a novel GDAP1 mutation in an Old Order Amish family with autosomal recessive Charcot-Marie-Tooth disease.
18421898 A novel Pro153Leu mutation in the GDAP1 gene identified in a consanguineous Polish family as cause of Charcot-Marie-Tooth disease type 4C4.
18231710 A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.
18062449 A novel C233T transversion at codon 78 (P78L) was detected in 6 patients from 3 unrelated families.
17433678 Two different point mutations, a novel R191X nonsense and a L239F missense mutation were detected in the GDAP1 gene causing Charcot-Marie-Tooth neurpathy.
16857173 Like other cytosolic GSTs, GDAP1 protein has a dimeric structure. deletion of C-terminal transmembrane domain allowed preparation of soluble protein. purified protein was assayed for glutathione-dependent activity against a library of GST substrates.
16607474 The patient of Charcot-Marie-Tooth with pyramidal feature has GDAP1 mutation(M116R).
16343542 In this study we report a novel mutation Met116Thr in the GDAP1 gene identified in a three generation Polish family with axonal CMT4.
15772096 may be related to the maintenance of the mitochondrial network
15019704 Genetic analysis revealed a homozygous thymidine deletion at nucleotide position 558 resulting in a frameshift at codon 186 and a stop codon at position 205.
14561495 This study detected six distinct mutant alleles in four families, four of which are novel.
12868504 This study shows the variability of the phenotype associated with mutations in GDAP1 gene in terms of associated signs and severity of Charcot-Marie-Tooth disease.
12499475 Mutations in GDAP1 are a frequent cause of autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A

AA Sequence

MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMR      1 - 70
LNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGC     71 - 140
ILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILD    141 - 210
ELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYY    211 - 280
ERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILA    281 - 350
FRPRPNYF                                                                  351 - 358
//

Text Mined References (64)

PMID Year Title
26525999 2016 GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
25621951 2015 USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.
25429913 2014 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
25337607 2014 A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
25168384 2015 Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
23628762 2013 Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.
23542510 2013 Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry.
23456260 2013 Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
23147504 2012 Mitochondria and peripheral neuropathies.
22971097 2012 A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
22546700 2012 A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
21965300 2012 Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
21890626 2011 Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.
21753178 2011 Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
21692914 2011 Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21365284 2011 A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.
21199105 2010 Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
20849849 2011 Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
20685671 2010 The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
20232219 2010 L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
19946888 2010 Defining the membrane proteome of NK cells.
19837996 [Charcot-Marie-Tooth disorders with autosomal recessive inheritance. Search for the molecular diagnostics model].
19782751 2009 GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.
19720140 2009 YY1-dependent transcriptional regulation of the human GDAP1 gene.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19500985 2009 Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.
19381883 2009 Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).
19340293 2009 Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchor.
19089472 2009 Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
18991200 2008 Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.
18504680 2008 Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
18492089 2008 A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
18464913 2008 A genome-wide association study identifies protein quantitative trait loci (pQTLs).
18421898 2007 Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
18231710 2008 A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.
18062449 2007 A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.
17903300 2007 Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
17433678 2007 GDAP1 mutations in Czech families with early-onset CMT.
16857173 2006 Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase.
16607474 2006 GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16343542 2006 A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
16172208 2005 Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.
15805163 2005 Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
15772096 2005 GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15019704 2004 Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14561495 2003 Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
12868504 2003 Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
12707075 2003 Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
12601710 2003 CMT4A: identification of a Hispanic GDAP1 founder mutation.
12566285 2003 Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
12499475 2002 Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11743580 2002 The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
11743579 2002 Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
11592034 2001 Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
10217254 1999 Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene.
8268915 1993 Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.
54332 1975 Alteration of the HL-A antigenic site in situ.