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Gan
Gene Detail
Symbol

Name
ID
Gan
giant axonal neuropathy
MGI:1890619
Synonyms
gigaxonin
Feature Type
protein coding gene
Genetic Map
Chromosome 8
63.71 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr8:117158137-117205834 bp, + strand
From VEGA annotation of GRCm38

  47698 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32523  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: kelch-like protein, gigaxonin type
Gene Tree: Gan

Human
homologs
Human Homolog GAN, gigaxonin
NCBI Gene ID 8139
neXtProt AC  NX_Q9H2C0
Human Synonyms  GAN1, KLHL16
Human Chr (Location)  16q24.1; chr16:81314966-81380198 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human GAN
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(5) Targeted(5)
Incidental mutations (data from APF )
 
Null homozygotes display some muscular atrophy and motor neuron degeneration with the severity of these symptoms depending on genotype.
 
Human Diseases Modeled Using Mouse Gan (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Gan interacts with 225 markers (Mir19a, Mir25, Mir26a-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (5 annotations)
Process cytoskeleton organization, protein ubiquitination
Component Cul3-RING ubiquitin ligase complex, cytoplasm, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (143)    Tissues (143)    Images (17)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 143
cDNA source data(11)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(13) cDNA(11) Primer pair(1) Other(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000033779 (Evidence)
Ensembl Gene ModelENSMUSG00000052557 (Evidence)
Entrez Gene209239 (Evidence)
UniGene132992
DFCITC1603182
DoTSDT.40175041
NIA Mouse Gene IndexU009864
Consensus CDS ProjectCCDS40490.1
International Mouse Knockout Project StatusGan
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033779 VEGA Gene Model | MGI Sequence Detail 47698 C57BL/6J ±  kb
transcript OTTMUST00000085106 VEGA | MGI Sequence Detail 3298 Not Applicable 
polypeptide OTTMUSP00000045937 VEGA | MGI Sequence Detail 597 Not Applicable 

For the selected sequences
All sequences(24) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(198 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011705 BTB/Kelch-associated
InterPro IPR013069 BTB/POZ
InterPro IPR011333 BTB/POZ fold
InterPro IPR000210 BTB/POZ-like
InterPro IPR017096 Kelch-like protein, gigaxonin
InterPro IPR006652 Kelch repeat type 1
InterPro IPR015915 Kelch-type beta propeller
Protein Ontology PR:000007836 gigaxonin
References
(Earliest) J:71328 Bomont P, et al., The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet. 2000 Nov;26(3):370-4
(Latest) J:201454 Mahammad S, et al., Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest. 2013 May 1;123(5):1964-75
All references(38)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory