LARGE2 (LARGE xylosyl- and glucuronyltransferase 2)

2016-06-01  

Identity

HGNC
LARGE2
LOCATION
11p11.2
LOCUSID
120071
ALIAS
GYLTL1B,PP5656

Other Information

Locus ID:

NCBI: 120071
MIM: 609709
HGNC: 16522
Ensembl: ENSG00000165905

Variants:

dbSNP: 120071
ClinVar: 120071
TCGA: ENSG00000165905
COSMIC: LARGE2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165905ENST00000325468Q8N3Y3
ENSG00000165905ENST00000401752Q8N3Y3
ENSG00000165905ENST00000529052E9PIZ2
ENSG00000165905ENST00000531526Q8N3Y3
ENSG00000165905ENST00000531847H0YDU6
ENSG00000165905ENST00000534410H0YDB8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
157527762005LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE.24
232234482013Loss of LARGE2 disrupts functional glycosylation of α-dystroglycan in prostate cancer.18
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.7
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3
262200872015Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma.3
254559322015The glycosyltransferase LARGE2 is repressed by Snail and ZEB1 in prostate cancer.2

Citation

Dessen P

LARGE2 (LARGE xylosyl- and glucuronyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-06-01

Online version: http://atlasgeneticsoncology.org/gene/55818/large2