ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase)

2007-02-01 Affiliation

Identity

HGNC

ABO

LOCATION

9q34.2

LOCUSID

ALIAS

A3GALNT,A3GALT1,GTB,NAGAT

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: 28
MIM: 110300
HGNC: 79
Ensembl: ENSG00000175164

Variants:

dbSNP: 28
ClinVar: 28
TCGA: ENSG00000175164
COSMIC: ABO

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000175164	ENST00000538324	A0A087X009
ENSG00000175164	ENST00000611156	A0A087X0C2

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
Glycosphingolipid biosynthesis - lacto and neolacto series	KEGG	ko00601
Glycosphingolipid biosynthesis - lacto and neolacto series	KEGG	hsa00601
Metabolic pathways	KEGG	hsa01100

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA164712308	Ace Inhibitors, Plain	Chemical	ClinicalAnnotation	associated		PD	21832968
PA452637	hormonal contraceptives for systemic use	Chemical	ClinicalAnnotation	associated		PD	28750087

References

Pubmed ID	Year	Title	Citations
18940312	2008	Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.	150
20231535	2010	Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.	130
20648472	2010	PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease.	105
19276450	2009	ABO blood group and the risk of pancreatic cancer.	98
19278955	2009	Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.	88
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20167578	2010	Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.	82
20167578	2010	Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.	82
18215251	2008	Multiplicity of Plasmodium falciparum infection in asymptomatic children in Senegal: relation to transmission, age and erythrocyte variants.	79
18003641	2008	Common variation in the ABO glycosyltransferase is associated with susceptibility to severe Plasmodium falciparum malaria.	68

Citation

Dessen P

ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46430/abo