GAN (gigaxonin)

2017-08-01  

Identity

HGNC
LOCATION
16q23.2
LOCUSID
ALIAS
GAN1,GIG,KLHL16
FUSION GENES

Other Information

Locus ID:

NCBI: 8139
MIM: 605379
HGNC: 4137
Ensembl: ENSG00000261609

Variants:

dbSNP: 8139
ClinVar: 8139
TCGA: ENSG00000261609
COSMIC: GAN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000261609ENST00000648349A0A3B3ITY2
ENSG00000261609ENST00000648994Q9H2C0
ENSG00000261609ENST00000648994A0A0S2Z4W2
ENSG00000261609ENST00000650388A0A0S2Z5G5

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
235854782013Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.36
163035662005Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.27
172560862007Giant axonal neuropathy.18
191688532009Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.18
264925782016Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.10
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.9
175788522007New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.8
264605682015Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy.8
173312522007Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients.7

Citation

Dessen P

GAN (gigaxonin)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57035/gan