GANC (glucosidase alpha, neutral C)

2014-11-01 Affiliation

Identity

HGNC

GANC

LOCATION

15q15.1

LOCUSID

2595

ALIAS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000214013	ENST00000318010	Q8TET4
ENSG00000214013	ENST00000440615	E7EWB6
ENSG00000214013	ENST00000561871	A0A0G2JLA2
ENSG00000214013	ENST00000562170	H3BMW3
ENSG00000214013	ENST00000562859	H3BMM3
ENSG00000214013	ENST00000566442	H3BN99
ENSG00000214013	ENST00000567784	H3BRQ6
ENSG00000214013	ENST00000570013	H3BRQ6

Expression (GTEx)

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

Pathway	Source	External ID
Galactose metabolism	KEGG	ko00052
Starch and sucrose metabolism	KEGG	ko00500
Galactose metabolism	KEGG	hsa00052
Starch and sucrose metabolism	KEGG	hsa00500
Metabolic pathways	KEGG	hsa01100

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
29282757	2018	Level of neutral alpha-1,4-glucosidase in seminal plasma of Chinese men.	1
29282757	2018	Level of neutral alpha-1,4-glucosidase in seminal plasma of Chinese men.	1
26610429	2016	Neutral alpha-1,4-glucosidase and fructose levels contribute to discriminating obstructive and nonobstructive azoospermia in Chinese men with azoospermia.	3
26610429	2016	Neutral alpha-1,4-glucosidase and fructose levels contribute to discriminating obstructive and nonobstructive azoospermia in Chinese men with azoospermia.	3
20800603	2010	Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.	14
20800603	2010	Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.	14
19588081	2009	Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.	15
19588081	2009	Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.	15
12370436	2002	Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.	4
12434312	2002	Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.	45
12370436	2002	Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.	4
12434312	2002	Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.	45

Citation

Dessen P

GANC (glucosidase alpha, neutral C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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