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Gan Gene Detail
Summary
  • Symbol
    Gan
  • Name
    giant axonal neuropathy
  • Synonyms
    gigaxonin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890619
    NCBI Gene: 209239
  • Gene Overview
    MyGene.info: GAN
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:117158135-117205186 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 63.71 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    190 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890619
protein coding gene Chr8:117158135-117215997 (.)
129S1/SvImJ MGP_129S1SvImJ_G0034172
protein coding gene Chr8:120294545-120348518 (+)
A/J MGP_AJ_G0034152
protein coding gene Chr8:115399718-115446301 (+)
AKR/J MGP_AKRJ_G0034079
protein coding gene Chr8:118757003-118803593 (+)
BALB/cJ MGP_BALBcJ_G0034146
protein coding gene Chr8:115597370-115655160 (+)
C3H/HeJ MGP_C3HHeJ_G0033857
protein coding gene Chr8:119487496-119535457 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034666
protein coding gene Chr8:124383395-124440253 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031608
protein coding gene Chr8:108324084-108375471 (+)
CAST/EiJ MGP_CASTEiJ_G0033184
protein coding gene Chr8:119318091-119368175 (+)
CBA/J MGP_CBAJ_G0033830
protein coding gene Chr8:128866146-128922919 (+)
DBA/2J MGP_DBA2J_G0033986
protein coding gene Chr8:114623598-114675733 (+)
FVB/NJ MGP_FVBNJ_G0033929
protein coding gene Chr8:113620614-113669134 (+)
LP/J MGP_LPJ_G0034075
protein coding gene Chr8:120423466-120474171 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033976
protein coding gene Chr8:131466666-131517944 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034684
protein coding gene Chr8:118848423-118896128 (+)
PWK/PhJ MGP_PWKPhJ_G0032886
protein coding gene Chr8:114331305-114379147 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032726
protein coding gene Chr8:117544177-117598549 (+)
WSB/EiJ MGP_WSBEiJ_G0033300
protein coding gene Chr8:119566088-119614265 (+)



Homology
more
  • Human Ortholog
    GAN, gigaxonin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GAN, gigaxonin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    GAN1, KLHL16
  • Links
    NCBI Gene ID: 8139
    neXtProt AC: NX_Q9H2C0
    UniProt: Q9H2C0

  • Chr Location
    16q23.2; chr16:81314941-81380198 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Gan mouse models; 1 with human GAN associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 2 alleles in 2 genetic backgrounds
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Null homozygotes display some muscular atrophy and motor neuron degeneration with the severity of these symptoms depending on genotype.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 209239 NCBI Gene Model | MGI Sequence Detail 47052 C57BL/6J ±  kb
    transcript NM_001081151 RefSeq | MGI Sequence Detail 3454 C57BL/6  
    polypeptide Q8CA72 UniProt | EBI | MGI Sequence Detail 597 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 12
      Primer pair 1
      Other 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 2
      Diseases 3
      Gene Ontology 3
      Phenotypes 10
    • 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:236708 Israeli E, et al., Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. Hum Mol Genet. 2016 Jun 1;25(11):2143-2157

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory