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 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; chr16:81348571-81413803 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human GAN

Alleles and phenotypes

All alleles(10) : Targeted(5) Gene trapped(5)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (6 annotations)

Process	cell death, cytoskeleton organization, ...
Component	Cul3-RING ubiquitin ligase complex, cytoplasm, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)    Images (15)
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(13) cDNA(11) Primer pair(1) Other(1)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000033779 (Evidence)
Ensembl Gene Model	ENSMUSG00000052557 (Evidence)
Entrez Gene	209239 (Evidence)
UniGene	132992
DFCI	TC1603182
DoTS	DT.40175041
NIA Mouse Gene Index	U009864
Consensus CDS Project	CCDS40490.1
International Mouse Knockout Project Status	Gan

Sequences

Length	Strain/Species
genomic	OTTMUSG00000033779	VEGA Gene Model | MGI Sequence Detail	47698	C57BL/6J
transcript	OTTMUST00000085106	VEGA | MGI Sequence Detail	3298	Not Applicable
polypeptide	OTTMUSP00000045937	VEGA | MGI Sequence Detail	597	Not Applicable

All sequences(23) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(130 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR011705	BTB/Kelch-associated
InterPro	IPR013069	BTB/POZ
InterPro	IPR011333	BTB/POZ fold
InterPro	IPR000210	BTB/POZ-like
InterPro	IPR015916	Galactose oxidase, beta-propeller
InterPro	IPR017096	Kelch-like protein, gigaxonin
InterPro	IPR006652	Kelch repeat type 1
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(36)