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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GAN Gene

protein-coding   GIFtS: 60
GCID: GC16P081348

Gigaxonin

(Previous name: giant axonal neuropathy (gigaxonin))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
gigaxonin1 2
GAN12 3 5
Kelch-Like Family Member 161 2
Kelch-Like Protein 162 3
KLHL162 3
Giant Axonal Neuropathy (Gigaxonin)1

External Ids:    HGNC: 41371   Entrez Gene: 81392   Ensembl: ENSG000001276887   OMIM: 6053795   UniProtKB: Q9H2C03   

Export aliases for GAN gene to outside databases

Previous GC identifers: GC16P072189 GC16P082309 GC16P081087 GC16P081128 GC16P079906 GC16P067103


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GAN Gene:
This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family.
The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination
and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). (provided by
RefSeq, Oct 2008)

GeneCards Summary for GAN Gene: 
GAN (gigaxonin) is a protein-coding gene. Diseases associated with GAN include giant axonal neuropathy, and axonal neuropathy, and among its related super-pathways are Class I MHC mediated antigen processing & presentation and Immune System. GO annotations related to this gene include protein binding and molecular_function. An important paralog of this gene is KLHDC8B.

UniProtKB/Swiss-Prot: GAN_HUMAN, Q9H2C0
Function: Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament
architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates
the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB.
Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival

Gene Wiki entry for GAN (Gigaxonin) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GAN gene promoter:
         Bach1   SRF   SRF (504 AA)   LCR-F1   Cdc5   GATA-2   CREB   AREB6   SRY   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAN promoter sequence
   Search SABiosciences Chromatin IP Primers for GAN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GAN


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

Entrez Gene cytogenetic band: 16q24.1   Ensembl cytogenetic band:  16q23.2   HGNC cytogenetic band: 16q24.1

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P081348:  view genomic region     (about GC identifiers)

Start:
81,348,557 bp from pter      End:
81,413,940 bp from pter
Size:
65,384 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GAN_HUMAN, Q9H2C0 (See protein sequence)
Recommended Name: Gigaxonin  
Size: 597 amino acids; 67638 Da
Subunit: Interacts with TBCB. Interacts with CUL3. Part of a complex that contains CUL3, RBX1 and GAN. Interacts
(via BTB domain) with UBA1. Interacts (via Kelch domains) with MAP1B (via C-terminus) and MAP1S (via C-terminus)
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton
2 PDB 3D structures from and Proteopedia for GAN:
2PPI (3D)        3HVE (3D)    

Explore the universe of human proteins at neXtProt for GAN: NX_Q9H2C0

Explore proteomics data for GAN at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for
    proteasome-independent degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H2C0

  • GAN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GAN Protein Expression
    REFSEQ proteins: NP_071324.1  
    ENSEMBL proteins: 
     ENSP00000248272  
    Reactome Protein details: Q9H2C0
    Human Recombinant Protein Products for GAN: 
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    OriGene Custom Protein Services for GAN
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    Novus Biologicals GAN Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GAN 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA19424503
    GO:0005883neurofilament NAS--
    GO:0031463Cul3-RING ubiquitin ligase complex IDA15983046

    GAN for ontologies           About GeneDecksing



    GAN Antibody Products: 
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    Abcam antibodies for GAN
    Cloud-Clone Corp. Antibodies for GAN 
    ThermoFisher Antibodies for GAN
    LSBio Antibodies in human, mouse, rat for GAN 

    Assay Products for GAN: 
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    Cloud-Clone Corp. CLIAs for GAN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    5/7 InterPro protein domains (see all 7):
     IPR017096 Kelch-like_gigaxonin
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q9H2C0

    ProtoNet protein and cluster: Q9H2C0

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: GAN_HUMAN, Q9H2C0
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    GAN 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GAN_HUMAN, Q9H2C0
    Function: Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament
    architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates
    the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB.
    Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI12147674
         
    GAN for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gan):
     behavior/neurological  cellular  growth/size  mortality/aging  muscle 
     nervous system 

    GAN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GAN: Gantm1Yany Gantm1Jpj

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GAN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GAN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GAN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GAN 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GAN
    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate GAN (see all 61):
    hsa-miR-429 hsa-let-7d hsa-miR-15a hsa-miR-199a-3p hsa-miR-503 hsa-miR-25 hsa-miR-30d hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidGAN 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GAN (NM_198141)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAN
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    Sirion Biotech Customized lentivirus for stable overexpression of GAN 
                         Customized lentivirus expression plasmids for stable overexpression of GAN 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAN


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GAN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for GAN
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    UniProtKB/Swiss-Prot: GAN_HUMAN, Q9H2C0
    Pathway: Protein modification; protein ubiquitination


    GAN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GAN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/17 Interacting proteins for GAN (Q9H2C01, 2, 3 ENSP000002482724) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP1BP468211, 3, ENSP000002967554EBI-764342,EBI-764611 I2D: score=4 STRING: ENSP00000296755
    TBCBQ994261, 3, ENSP000002218554EBI-764342,EBI-764356 I2D: score=2 STRING: ENSP00000221855
    SFNP319472, 3MINT-3974974 I2D: score=2 
    UBA1P223141, 3, ENSP000003384134EBI-764342,EBI-709688 I2D: score=2 STRING: ENSP00000338413
    ATG16L1Q676U53, ENSP000003758724I2D: score=3 STRING: ENSP00000375872
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0008219cell death IEA--
    GO:0016567protein ubiquitination IEA--

    GAN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GAN

    Search CenterWatch for drugs/clinical trials and news about GAN

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GAN gene: 
    NM_022041.3  

    Unigene Cluster for GAN:

    Gigaxonin
    Hs.112569  [show with all ESTs]
    Unigene Representative Sequence: AF291673
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000248272(uc002fgo.3) ENST00000567335

    miRNA
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    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate GAN (see all 61):
    hsa-miR-429 hsa-let-7d hsa-miR-15a hsa-miR-199a-3p hsa-miR-503 hsa-miR-25 hsa-miR-30d hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidGAN 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GAN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GAN
    Clone
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    GenScript: all cDNA clones in your preferred vector: GAN (NM_198141)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAN
    Sirion Biotech Customized lentivirus for stable overexpression of GAN 
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    Primer
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    OriGene qPCR primer pairs and template standards for GAN
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GAN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GAN

    Additional mRNA sequence: 

    AF291673.1 AK095378.1 BC016717.1 BC044840.1 

    2 DOTS entries:

    DT.306282  DT.99970538 

    24 AceView cDNA sequences:

    NM_022041 AW673751 BC044840 AA306952 AF291673 CD677584 AL706883 CB243238 
    AA084323 AK095378 BC016717 AA932250 BX508770 AW078676 CA433046 CD671937 
    AW673114 AA081576 BF803108 BF083692 AA604690 BQ311505 AI821712 BQ356248 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GAN expression in normal human tissues (normalized intensities)      GAN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GAN Expression
    About this image


    GAN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Hippocampus
             ganglion/cranial   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             epididymis ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See GAN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GAN

    SOURCE GeneReport for Unigene cluster: Hs.112569

    UniProtKB/Swiss-Prot: GAN_HUMAN, Q9H2C0
    Tissue specificity: Expressed in brain, heart and muscle

        SABiosciences Expression via Pathway-Focused PCR Array including GAN: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAN

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GAN gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gan1 , 5 giant axonal neuropathy1, 5 87.44(n)1
    98.32(a)1
      8 (63.71 cM)5
    2092391  NM_001081151.11  NP_001074620.11 
     1171581375 
    chicken
    (Gallus gallus)
    Aves GAN1 gigaxonin 81.69(n)
    91.62(a)
      430553  XM_428110.3  XP_428110.3 
    lizard
    (Anolis carolinensis)
    Reptilia GAN6
    Uncharacterized protein
    90(a)
    1 ↔ 1
    LGc(5843841-5869432)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.160552 Transcribed sequence with moderate similarity to protein more 75.2(n)    142032520 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005374351 gigaxonin-like 66.3(n)
    69.23(a)
      100537435  XM_003200434.1  XP_003200482.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GAN gene
    KLHDC8B2  IVNS1ABP2  KLHDC8A2  
    1 SIMAP similar gene for GAN using alignment to 1 protein entry:     GAN_HUMAN:
    KBTBD3

    GAN 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2192 SNPs in GAN are shown (see all 2192)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0541134
    Giant axonal neuropathy (GAN)4--see VAR_0541132 A P mis40--------
    VAR_0156814
    Giant axonal neuropathy (GAN)4--see VAR_0156812 G R mis40--------
    VAR_0107664
    Giant axonal neuropathy (GAN)4--see VAR_0107662 R C mis40--------
    VAR_0107634
    Giant axonal neuropathy (GAN)4--see VAR_0107632 R H mis40--------
    VAR_0107594
    Giant axonal neuropathy (GAN)4--see VAR_0107592 R S mis40--------
    VAR_0155604
    Giant axonal neuropathy (GAN)4--see VAR_0155602 I T mis40--------
    VAR_0107574
    Giant axonal neuropathy (GAN)4--see VAR_0107572 E K mis40--------
    VAR_0541174
    Giant axonal neuropathy (GAN)4--see VAR_0541172 G R mis40--------
    VAR_0107614
    Giant axonal neuropathy (GAN)4--see VAR_0107612 S L mis40--------
    VAR_0107624
    Giant axonal neuropathy (GAN)4--see VAR_0107622 V F mis40--------

    HapMap Linkage Disequilibrium report for GAN (81348557 - 81413940 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GAN:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv524477CNV Gain19592680
    nsv524464CNV Gain19592680


    Human Gene Mutation Database (HGMD): GAN

    Locus Specific Mutation Databases (LSDB): GAN
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GAN
    DNA2.0 Custom Variant and Variant Library Synthesis for GAN

    (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
    OMIM gene information: 605379   
    OMIM disorders: 256850  
    UniProtKB/Swiss-Prot: GAN_HUMAN, Q9H2C0
  • Giant axonal neuropathy (GAN) [MIM:256850]: Severe autosomal recessive sensorimotor neuropathy affecting
    both the peripheral nerves and the central nervous system. It is characterized by neurofilament accumulation,
    leading to segmental distention of axons. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 12 diseases for GAN:    About MalaCards
    giant axonal neuropathy    axonal neuropathy    jejunal neoplasm    neuropathy
    neuroaxonal dystrophy    borderline personality disorder    personality disorder    polyneuropathy
    peripheral neuropathy    retinitis pigmentosa    retinitis    neuronitis

    5 diseases from the University of Copenhagen DISEASES database for GAN:
    Neuropathy     Neuroaxonal dystrophy     Borderline personality disorder     Polyneuropathy
    Endometriosis of uterus

    GAN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for GAN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuropathy, giant axonal 99 19 17587580 (3), 18595793 (2), 11062483 (2), 19295179 (2) (see all 13)
    neurodegenerative diseases 63.2 5 12655563 (1), 19168853 (1), 11062483 (1), 16227972 (1) (see all 5)

    GeneTests: GAN
    GeneReviews: GAN
    Genetic Association Database (GAD): GAN
    Human Genome Epidemiology (HuGE) Navigator: GAN (83 documents)

    Export disorders for GAN 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

    PubMed articles for GAN gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with GAN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. (PubMed id 11062483)1, 2, 3, 9 Bomont P.... Koenig M. (2000)
    2. Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin. (PubMed id 12147674)1, 2, 9 Ding J....Yang Y. (2002)
    3. Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival. (PubMed id 16227972)1, 2, 9 Allen E....Yang Y. (2005)
    4. Identification of seven novel mutations in the GAN gene. (PubMed id 12655563)1, 2, 9 Bomont P.... Koenig M. (2003)
    5. Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). (PubMed id 17587580)1, 2, 9 Koop O.... Kuhlenbaeumer G. (2007)
    6. Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway. (PubMed id 16303566)1, 2, 9 Wang W.... Yang Y. (2005)
    7. New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. (PubMed id 17578852)1, 2, 9 Houlden H.... Reilly M.M. (2007)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (2010)
    10. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PubMed id 19424503)1, 2 Wang X.J. and Zhang D.D. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8139 HGNC: 4137 AceView: GAN Ensembl:ENSG00000127688 euGenes: HUgn8139
    ECgene: GAN H-InvDB: GAN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GAN Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GAN

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

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



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