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GDAP1 Gene

protein-coding   GIFtS: 61
GCID: GC08P075233

Ganglioside Induced Differentiation Associated Protein 1

(Previous name: Charcot-Marie-Tooth neuropathy 4A)
(Previous symbol: CMT4A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ganglioside Induced Differentiation Associated Protein 11 2     CMT42
CMT4A1 2 5     Ganglioside Differentiation Associated Protein 12
Charcot-Marie-Tooth Neuropathy 4A1 2     Ganglioside-Induced Differentiation-Associated Protein 12
CMTRIA2 5     CMT2K5

External Ids:    HGNC: 159681   Entrez Gene: 543322   Ensembl: ENSG000001043817   OMIM: 6065985   UniProtKB: Q8TB363   
ORGUL members:         

Export aliases for GDAP1 gene to outside databases

Previous GC identifers: GC08P074315 GC08P075203 GC08P074985 GC08P075312 GC08P075276 GC08P075425 GC08P070753


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GDAP1 Gene:
This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a
role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated
with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different
isoforms and a noncoding variant have been identified for this gene. (provided by RefSeq, Feb 2012)

GeneCards Summary for GDAP1 Gene:
GDAP1 (ganglioside induced differentiation associated protein 1) is a protein-coding gene. Diseases associated with GDAP1 include charcot-marie-tooth disease type 2h, and gdap1-related intermediate charcot-marie-tooth neuropathy. An important paralog of this gene is GDAP1L1.

UniProtKB/Swiss-Prot: GDAP1_HUMAN, Q8TB36
Function: Regulates the mitochondrial network by promoting mitochondrial fission

Gene Wiki entry for GDAP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_008183.20  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GDAP1 gene promoter:
         AP-1   NRSF form 1   Nkx2-5   E4BP4   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGDAP1 promoter sequence
   Search Chromatin IP Primers for GDAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GDAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21.11   Ensembl cytogenetic band:  8q21.11   HGNC cytogenetic band: 8q13.3

GDAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GDAP1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P075233:  view genomic region     (about GC identifiers)

Start:
75,233,365 bp from pter      End:
75,401,107 bp from pter
Size:
167,743 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GDAP1_HUMAN, Q8TB36 (See protein sequence)
Recommended Name: Ganglioside-induced differentiation-associated protein 1  
Size: 358 amino acids; 41346 Da
Subunit: Homodimer
Caution: While belonging to the GST superfamily, it lacks glutathione transferase activity
Alternative splicing: 2 isoforms:  Q8TB36-1   Q8TB36-2   

Explore the universe of human proteins at neXtProt for GDAP1: NX_Q8TB36

Explore proteomics data for GDAP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GDAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001035808.1  NP_061845.2  

    ENSEMBL proteins: 
     ENSP00000220822   ENSP00000417006   ENSP00000430136  

    GDAP1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR012336 Thioredoxin-like_fold
     IPR004045 Glutathione_S-Trfase_N
     IPR010987 Glutathione-S-Trfase_C-like

    Graphical View of Domain Structure for InterPro Entry Q8TB36

    ProtoNet protein and cluster: Q8TB36

    1 Blocks protein domain: IPB004045 Glutathione S-transferase

    UniProtKB/Swiss-Prot: GDAP1_HUMAN, Q8TB36
    Similarity: Belongs to the GST superfamily
    Similarity: Contains 1 GST C-terminal domain
    Similarity: Contains 1 GST N-terminal domain


    GDAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GDAP1_HUMAN, Q8TB36
    Function: Regulates the mitochondrial network by promoting mitochondrial fission

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    GDAP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GDAP1:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GDAP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GDAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GDAP1

    miRNA
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    miRTarBase miRNAs that target GDAP1:
    hsa-mir-200a-3p (MIRT005752), hsa-mir-375 (MIRT020027), hsa-mir-17-5p (MIRT050800), hsa-mir-26a-5p (MIRT005751), hsa-mir-26b-5p (MIRT030243), hsa-mir-203a (MIRT005747)

    Block miRNA regulation of human, mouse, rat GDAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GDAP1 (see all 22):
    hsa-miR-140-5p hsa-miR-320a hsa-miR-766 hsa-miR-650 hsa-miR-515-3p hsa-miR-548c-3p hsa-miR-3612 hsa-miR-331-5p
    SwitchGear 3'UTR luciferase reporter plasmidGDAP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GDAP1

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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GDAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GDAP1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDAP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GDAP1_HUMAN, Q8TB36: Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031307integral component of mitochondrial outer membrane IDA15772096

    GDAP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GDAP1 About    
    See pathways by source

    SuperPathContained pathways About
    1NgR-p75(NTR)-Mediated Signaling
    NgR-p75(NTR)-Mediated Signaling
    2Guidance Cues and Growth Cone Motility
    Guidance Cues and Growth Cone Motility

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GDAP1
        Guidance Cues and Growth Cone Motility
    NgR-p75(NTR)-Mediated Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GDAP1
    Interactions:

        Search GeneGlobe Interaction Network for GDAP1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for GDAP1 (Q8TB363 ENSP000002208224) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000232575P074373, ENSP000004100714I2D: score=1 STRING: ENSP00000410071
    ENSG00000183311P074373I2D: score=1 
    ENSG00000224156P074373I2D: score=1 
    ENSG00000227739P074373I2D: score=1 
    ENSG00000229684P074373I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000266mitochondrial fission IDA15772096
    GO:0006626protein targeting to mitochondrion IMP15772096
    GO:0032526response to retinoic acid IEA--

    GDAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GDAP1

    1 Novoseek inferred chemical compound relationship for GDAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gsts 47.5 3 14595091 (2), 16857173 (1)



    GDAP1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GDAP1 gene (2 alternative transcripts): 
    NM_001040875.2  NM_018972.2  

    Unigene Cluster for GDAP1:

    Ganglioside induced differentiation associated protein 1
    Hs.168950  [show with all ESTs]
    Unigene Representative Sequence: NM_018972
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521096 ENST00000520797 ENST00000220822(uc003yah.3 uc011lfj.2 uc003yai.3)
    ENST00000434412 ENST00000523640 ENST00000524366 ENST00000522568 ENST00000524195

    miRNA
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    Block miRNA regulation of human, mouse, rat GDAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GDAP1 (see all 22):
    hsa-miR-140-5p hsa-miR-320a hsa-miR-766 hsa-miR-650 hsa-miR-515-3p hsa-miR-548c-3p hsa-miR-3612 hsa-miR-331-5p
    SwitchGear 3'UTR luciferase reporter plasmidGDAP1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GDAP1
    Predesigned siRNA for gene silencing in human, mouse, rat GDAP1
    Clone
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    OriGene clones in human, mouse for GDAP1 (see all 11)
    OriGene ORF clones in mouse, rat for GDAP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GDAP1 (NM_018972)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GDAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GDAP1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GDAP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GDAP1
      QuantiTect SYBR Green Assays in human, mouse, rat GDAP1
      QuantiFast Probe-based Assays in human, mouse, rat GDAP1

    Additional mRNA sequence: 

    AB551556.1 AB551557.1 AB551558.1 AK292572.1 AK295594.1 AL110252.1 BC024939.1 BC035450.1 
    BC036496.1 NR_046346.1 Y17849.1 

    5 DOTS entries:

    DT.100763465  DT.101968572  DT.91696465  DT.215686  DT.95278066 

    Selected AceView cDNA sequences (see all 119):

    BQ717308 W93776 BE552078 BQ231926 Z40710 BF436995 BC024939 Z44965 
    AI339369 Z40623 BE552062 AI640234 AA993190 AI474423 N40957 AI954697 
    BG705170 BE075192 BF002104 BC035450 BG911107 AU100305 AA631870 CK000871 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GDAP1    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
    SP1:                                            -                                       
    SP2:                          -     -                                                   
    SP3:                                                                                    
    SP4:                                                  -                                 


    ECgene alternative splicing isoforms for GDAP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GDAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTATCGGTG
    GDAP1 Expression
    About this image


    GDAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)    fully expand to see all 3 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
             Islets of Langerhans
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Somatic Cells Ovigerous Cord
             Secondary follicles
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    GDAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GDAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.168950

    UniProtKB/Swiss-Prot: GDAP1_HUMAN, Q8TB36
    Tissue specificity: Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of
    the nervous system not only in neurons but also in Schwann cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDAP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GDAP1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gdap11 , 5 ganglioside-induced differentiation-associated-protein more1, 5 90.88(n)1
    93.85(a)1
      1 (5.21 cM)5
    145451  NM_010267.31  NP_034397.11 
     171453625 
    chicken
    (Gallus gallus)
    Aves GDAP11 ganglioside induced differentiation associated protein more 78.2(n)
    84.75(a)
      420191  XM_004939915.1  XP_004939972.1 
    lizard
    (Anolis carolinensis)
    Reptilia GDAP16
    ganglioside induced differentiation associated pro...
    81(a)
    1 ↔ 1
    4(33976960-33991691)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gdap11 ganglioside induced differentiation associated protein more 74.78(n)
    84.57(a)
      100490264  XM_002937076.2  XP_002937122.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gdap11 ganglioside-induced differentiation-associated protein more 72.19(n)
    79.06(a)
      553702  NM_001020675.1  NP_001018511.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG46231 CG4623 43.64(n)
    30.91(a)
      38597  NM_001274508.1  NP_001261437.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G772901 AT1G77290 44.16(n)
    34.2(a)
      844065  NM_001036215.1  NP_001031292.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04355001 Os04g0435500 44.16(n)
    29.87(a)
      4335902  NM_001059383.1  NP_001052848.1 


    ENSEMBL Gene Tree for GDAP1 (if available)
    TreeFam Gene Tree for GDAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GDAP1 gene
    GDAP1L12  
    1 SIMAP similar gene for GDAP1 using alignment to 5 protein entries:     GDAP1_HUMAN (see all proteins):
    GDAP1L1

    GDAP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GDAP1 (see all 485)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289379061,2,,4
    CCharcot-Marie-Tooth disease 4A (CMT4A)4 pathogenic175276369(+) ACGAGC/TGTGTC 5 R C mis1 ese30--------
    VAR_0171874
    Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV)4--see VAR_0171872 R Q mis40--------
    VAR_0670874
    Charcot-Marie-Tooth disease 2K (CMT2K)4--see VAR_0670872 R H mis40--------
    VAR_0670864
    Charcot-Marie-Tooth disease 2K (CMT2K)4--see VAR_0670862 H R mis40--------
    VAR_0171854
    Charcot-Marie-Tooth disease 4A (CMT4A)4--see VAR_0171852 R H mis40--------
    VAR_0171844
    Charcot-Marie-Tooth disease 4A (CMT4A)4--see VAR_0171842 R Q mis40--------
    rs1048940781,2
    Cpathogenic175272419(+) ACCCAC/TGGGTA 5 R W mis10--------
    rs1048940791,2
    Cpathogenic175272530(+) ATGCAA/CCTACA 5 T P mis10--------
    rs1048940761,2
    Cpathogenic175272543(+) GATTCA/GTAGTA 5 H R mis10--------
    rs1048940771,2
    Cpathogenic175274121(+) CAGGCC/TAAATT 5 Q * stg10--------

    HapMap Linkage Disequilibrium report for GDAP1 (75233365 - 75401107 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GDAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv891014CNV Loss21882294

    Human Gene Mutation Database (HGMD): GDAP1
    Locus Specific Mutation Databases (LSDB): GDAP1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GDAP1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606598   
    OMIM disorders: 214400  607706  607831  608340  
    UniProtKB/Swiss-Prot: GDAP1_HUMAN, Q8TB36
  • Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400]: A recessive demyelinating form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth
    disease is classified in two main groups on the basis of electrophysiologic properties and histopathology:
    primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary
    peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve
    conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations
    on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow
    feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
    CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in
    late childhood or adolescence. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706]:
    A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord
    paresis. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive
    weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]: An axonal form of Charcot-Marie-Tooth disease, a
    disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the
    peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two
    main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating
    neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies
    (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of
    obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle
    weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Charcot-Marie-Tooth disease
    type 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities,
    kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs.
    Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be
    autosomal dominant or recessive. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Charcot-Marie-Tooth disease, recessive, intermediate type, A (CMTRIA) [MIM:608340]: A form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive
    intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features
    intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction
    velocities ranging from 25 to 45 m/sec. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for GDAP1 (see all 31):    
    About MalaCards
    charcot-marie-tooth disease type 2h    gdap1-related intermediate charcot-marie-tooth neuropathy    charcot-marie-tooth disease type 2g    charcot-marie-tooth disease, recessive intermediate, a
    charcot-marie-tooth disease type 2k    charcot-marie-tooth neuropathy type 2h/2k    charcot-marie-tooth disease type 4    charcot-marie-tooth neuropathy type 4a
    charcot-marie-tooth disease, axonal, with vocal cord paresis    charcot-marie-tooth neuropathy type 2    intermediate charcot-marie-tooth neuropathy    charcot-marie-tooth neuropathy type 4
    tooth disease    neuropathy    clubfoot    charcot-marie-tooth disease
    charcot-marie-tooth disease type 2    axonal neuropathy    hereditary neuropathies    mitochondrial complex i deficiency

    2 diseases from the University of Copenhagen DISEASES database for GDAP1:
    Neuropathy     Myopathy

    GDAP1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for GDAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    charcot-marie-tooth disease 95.1 33 17039978 (4), 16172208 (2), 12821518 (2), 12566285 (2) (see all 23)
    sensory neuropathy 75.7 2 16172208 (1), 12821518 (1)
    demyelination 64.2 3 16172208 (1), 12499475 (1), 12566285 (1)
    clubfoot 50.4 1 12566285 (1)
    paralysis 48.2 5 15019704 (2), 18812441 (1), 12499475 (1), 12821518 (1)
    disability 5.05 1 18812441 (1)

    GeneTests: GDAP1
    GeneReviews: GDAP1
    Genetic Association Database (GAD): GDAP1
    Human Genome Epidemiology (HuGE) Navigator: GDAP1 (3 documents)

    Export disorders for GDAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for GDAP1 gene, integrated from 10 sources (see all 80):
    (articles sorted by number of sources associating them with GDAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. (PubMed id 12566285)1, 2, 4, 9 Senderek J.... Schroeder J.M. (Brain 2003)
    2. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. (PubMed id 11743579)1, 2, 3, 9 Baxter R.V.... Vance J.M. (Nat. Genet. 2002)
    3. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. (PubMed id 12868504)1, 2, 9 Azzedine H.... Dubourg O. (Neuromuscul. Disord. 2003)
    4. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. (PubMed id 12499475)1, 2, 9 Nelis E.... Timmerman V. (Neurology 2002)
    5. Functional characterisation of ganglioside-induced differentiation- associated protein 1 as a glutathione transferase. (PubMed id 16857173)1, 2, 9 Shield A.J.... Board P.G. (Biochem. Biophys. Res. Commun. 2006)
    6. 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. (PubMed id 15019704)1, 4, 9 Stojkovic T....Vermersch P. (Neuromuscul. Disord. 2004)
    7. CMT4A: identification of a Hispanic GDAP1 founder mutation. (PubMed id 12601710)1, 2, 9 Boerkoel C.F.... Lupski J.R. (Ann. Neurol. 2003)
    8. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
    9. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)1, 4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
    10. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. (PubMed id 15772096)1, 2 Pedrola L.... Palau F. (Hum. Mol. Genet. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 54332 HGNC: 15968 AceView: GDAP1 Ensembl:ENSG00000104381 euGenes: HUgn54332
    ECgene: GDAP1 H-InvDB: GDAP1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GDAP1 Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GDAP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GDAP1 gene:
    Search GeneIP for patents involving GDAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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