GANC (glucosidase alpha, neutral C)

2014-11-01  

Identity

HGNC
GANC
LOCATION
15q15.1
LOCUSID
2595
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2595
MIM: 104180
HGNC: 4139
Ensembl: ENSG00000214013

Variants:

dbSNP: 2595
ClinVar: 2595
TCGA: ENSG00000214013
COSMIC: GANC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000214013ENST00000318010Q8TET4
ENSG00000214013ENST00000440615E7EWB6
ENSG00000214013ENST00000561871A0A0G2JLA2
ENSG00000214013ENST00000562170H3BMW3
ENSG00000214013ENST00000562859H3BMM3
ENSG00000214013ENST00000566442H3BN99
ENSG00000214013ENST00000567784H3BRQ6
ENSG00000214013ENST00000570013H3BRQ6

Expression (GTEx)

0
5
10
15
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
Galactose metabolismKEGGko00052
Starch and sucrose metabolismKEGGko00500
Galactose metabolismKEGGhsa00052
Starch and sucrose metabolismKEGGhsa00500
Metabolic pathwaysKEGGhsa01100

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
124343122002Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.27
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
195880812009Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.10
123704362002Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.1
266104292016Neutral alpha-1,4-glucosidase and fructose levels contribute to discriminating obstructive and nonobstructive azoospermia in Chinese men with azoospermia.1
292827572018Level of neutral alpha-1,4-glucosidase in seminal plasma of Chinese men.0

Citation

Dessen P

GANC (glucosidase alpha, neutral C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63696/ganc