GANAB (glucosidase II alpha subunit)

2012-01-01  

Identity

HGNC
LOCATION
11q12.3
LOCUSID
ALIAS
G2AN,GIIA,GLUII,PKD3
FUSION GENES

Other Information

Locus ID:

NCBI: 23193
MIM: 104160
HGNC: 4138
Ensembl: ENSG00000089597

Variants:

dbSNP: 23193
ClinVar: 23193
TCGA: ENSG00000089597
COSMIC: GANAB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000089597ENST00000346178Q14697
ENSG00000089597ENST00000356638Q14697
ENSG00000089597ENST00000356638V9HWJ0
ENSG00000089597ENST00000525994E9PNH1
ENSG00000089597ENST00000526210Q14697
ENSG00000089597ENST00000529737E9PQ69
ENSG00000089597ENST00000532402Q14697
ENSG00000089597ENST00000534613Q14697
ENSG00000089597ENST00000534779E9PKU7
ENSG00000089597ENST00000540933F5H6X6
ENSG00000089597ENST00000648273F5H6X6

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
N-glycan precursor trimmingKEGGhsa_M00073
N-glycan precursor trimmingKEGGM00073
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
Calnexin/calreticulin cycleREACTOMER-HSA-901042

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
272590532016Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.77
216423802011Molecular chaperones as a common set of proteins that regulate the invasion phenotype of head and neck cancer.21
283751572017Isolated polycystic liver disease genes define effectors of polycystin-1 function.20
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.17
240085182013Glucosidase II exhibits similarity to the p53 tumor suppressor in regards to structure and behavior in response to stress signals: a potential novel cancer biomarker.4
287846532017A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease.3
292432902018A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.2
197372792009Correlation between neutral alpha-glucosidase activity and sperm DNA fragmentation.1

Citation

Dessen P

GANAB (glucosidase II alpha subunit)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52541/ganab