ALG12 (ALG12 alpha-1,6-mannosyltransferase)

2014-11-01 Affiliation

Identity

HGNC

ALG12

LOCATION

22q13.33

LOCUSID

79087

ALIAS

CDG1G,ECM39,PP14673,hALG12

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: 79087
MIM: 607144
HGNC: 19358
Ensembl: ENSG00000182858

Variants:

dbSNP: 79087
ClinVar: 79087
TCGA: ENSG00000182858
COSMIC: ALG12

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000182858	ENST00000330817	Q9BV10
ENSG00000182858	ENST00000330817	A0A024R4V6
ENSG00000182858	ENST00000486602	H7C5R7
ENSG00000182858	ENST00000492791	H7C4I6

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
N-Glycan biosynthesis	KEGG	ko00510
N-Glycan biosynthesis	KEGG	hsa00510
Metabolic pathways	KEGG	hsa01100
N-glycan precursor biosynthesis	KEGG	hsa_M00055
N-glycan precursor biosynthesis	KEGG	M00055
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	REACTOME	R-HSA-446193

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
34092405	2021	Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.	0
34467644	2021	A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.	4
34092405	2021	Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.	0
34467644	2021	A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.	4
31529350	2019	ALG12-CDG: novel glycophenotype insights endorse the molecular defect.	10
31529350	2019	ALG12-CDG: novel glycophenotype insights endorse the molecular defect.	10
11983712	2002	Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.	22
12093361	2002	Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.	11
11983712	2002	Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.	22
12093361	2002	Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.	11

Citation

Dessen P

ALG12 (ALG12 alpha-1,6-mannosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60249/alg12-(alg12-alpha-1-6-mannosyltransferase)