POFUT2 (protein O-fucosyltransferase 2)

2014-11-01  

Identity

HGNC
POFUT2
LOCATION
21q22.3
LOCUSID
23275
ALIAS
C21orf80,FUT13
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23275
MIM: 610249
HGNC: 14683
Ensembl: ENSG00000186866

Variants:

dbSNP: 23275
ClinVar: 23275
TCGA: ENSG00000186866
COSMIC: POFUT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186866ENST00000331343Q9Y2G5
ENSG00000186866ENST00000334538Q9Y2G5
ENSG00000186866ENST00000349485Q9Y2G5
ENSG00000186866ENST00000451615H7C2T5
ENSG00000186866ENST00000612472S6FW71
ENSG00000186866ENST00000615172A0A0C4DGX7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Other types of O-glycan biosynthesisKEGGko00514
Other types of O-glycan biosynthesisKEGGhsa00514
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
255446102015Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.34
205495152010Genome-wide searching of rare genetic variants in WTCCC data.29
225880822012Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation.21
277733852017Altered fucosyltransferase expression in the superior temporal gyrus of elderly patients with schizophrenia.3

Citation

Dessen P

POFUT2 (protein O-fucosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72043/pofut2