B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2)

2014-09-01  

Identity

HGNC
B3GALNT2
LOCATION
1q42.3
LOCUSID
148789
ALIAS
B3GalNAc-T2,MDDGA11
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 148789
MIM: 610194
HGNC: 28596
Ensembl: ENSG00000162885

Variants:

dbSNP: 148789
ClinVar: 148789
TCGA: ENSG00000162885
COSMIC: B3GALNT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162885ENST00000313984Q8NCR0
ENSG00000162885ENST00000366600Q8NCR0
ENSG00000162885ENST00000612859A0A087WY64

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
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

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
373683802023[Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene].0
373683802023[Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene].0
353385372022Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.2
353385372022Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.2
332902852020Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients.0
332902852020Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients.0
308988762019Identification of mammalian glycoproteins with type-I LacdiNAc structures synthesized by the glycosyltransferase B3GALNT2.6
308988762019Identification of mammalian glycoproteins with type-I LacdiNAc structures synthesized by the glycosyltransferase B3GALNT2.6
296183682018Increased B3GALNT2 in hepatocellular carcinoma promotes macrophage recruitment via reducing acetoacetate secretion and elevating MIF activity.10
296183682018Increased B3GALNT2 in hepatocellular carcinoma promotes macrophage recruitment via reducing acetoacetate secretion and elevating MIF activity.10
292730942017B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.9
292730942017B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.9
240845732014B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.12
242854002014Involvement of B3GALNT2 overexpression in the cell growth of breast cancer.8
240845732014B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.12

Citation

Dessen P

B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-09-01

Online version: http://atlasgeneticsoncology.org/gene/54875/js/lib/deep-insight-explorer/