GANAB (glucosidase II alpha subunit)

2012-01-01  

Identity

HGNC
GANAB
LOCATION
11q12.3
LOCUSID
23193
ALIAS
G2AN,GIIA,GLUII,PKD3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
373765992023ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia.3
373765992023ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia.3
358796902022Glycoprotein α-Subunit of Glucosidase II (GIIα) is a novel prognostic biomarker correlated with unfavorable outcome of urothelial carcinoma.2
358796902022Glycoprotein α-Subunit of Glucosidase II (GIIα) is a novel prognostic biomarker correlated with unfavorable outcome of urothelial carcinoma.2
330970772020Novel GANAB variants associated with polycystic liver disease.6
330970772020Novel GANAB variants associated with polycystic liver disease.6
292432902018A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.13
292432902018A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.13
283751572017Isolated polycystic liver disease genes define effectors of polycystin-1 function.68
287846532017A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease.4
283751572017Isolated polycystic liver disease genes define effectors of polycystin-1 function.68
287846532017A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease.4
272590532016Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.180
272590532016Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.180
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.8

Citation

Dessen P

GANAB (glucosidase II alpha subunit)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52541/js/haematological-explorer/cancer-prone-explorer/