POFUT2 (protein O-fucosyltransferase 2)

2014-11-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
C21orf80,FUT13
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
362605362022The Essential Role of Water Molecules in the Reaction Mechanism of Protein O-Fucosyltransferase 2.2
362605362022The Essential Role of Water Molecules in the Reaction Mechanism of Protein O-Fucosyltransferase 2.2
277733852017Altered fucosyltransferase expression in the superior temporal gyrus of elderly patients with schizophrenia.8
277733852017Altered fucosyltransferase expression in the superior temporal gyrus of elderly patients with schizophrenia.8
255446102015Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.46
255446102015Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.46
225880822012Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation.38
225880822012Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation.38
205495152010Genome-wide searching of rare genetic variants in WTCCC data.31
205495152010Genome-wide searching of rare genetic variants in WTCCC data.31

Citation

Dessen P

POFUT2 (protein O-fucosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72043/pofut2-(protein-o-fucosyltransferase-2)