B4GALT6 (beta-1,4-galactosyltransferase 6)

2014-11-01  

Identity

HGNC
B4GALT6
LOCATION
18q12.1
LOCUSID
9331
ALIAS
B4Gal-T6,beta4Gal-T6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9331
MIM: 604017
HGNC: 929
Ensembl: ENSG00000118276

Variants:

dbSNP: 9331
ClinVar: 9331
TCGA: ENSG00000118276
COSMIC: B4GALT6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118276ENST00000237019G3XA83
ENSG00000118276ENST00000306851Q9UBX8
ENSG00000118276ENST00000383131Q9UBX8
ENSG00000118276ENST00000579372J3QQY9

Expression (GTEx)

0
5
10
15
20
25
30
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
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Lactosylceramide biosynthesisKEGGhsa_M00066
Lactosylceramide biosynthesisKEGGM00066
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
N-glycan antennae elongation in the medial/trans-GolgiREACTOMER-HSA-975576
N-Glycan antennae elongationREACTOMER-HSA-975577
O-linked glycosylationREACTOMER-HSA-5173105
O-linked glycosylation of mucinsREACTOMER-HSA-913709
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate biosynthesisREACTOMER-HSA-2022854

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
121801322002Molecular cloning, genomic organization, and mapping of beta 4GalT-VIb, a brain abundant member of beta 4-galactosyltransferase gene family, to human chromosome 18q12.1.0
121801322002Molecular cloning, genomic organization, and mapping of beta 4GalT-VIb, a brain abundant member of beta 4-galactosyltransferase gene family, to human chromosome 18q12.1.0

Citation

Dessen P

B4GALT6 (beta-1,4-galactosyltransferase 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60690/gene-fusions-explorer/meetings/