POFUT2
GDP-fucose protein O-fucosyltransferase 2
Also known as: C21orf80, FUT13, KIAA0958, OFUT2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y2G5
- Gene
- POFUT2
- Ensembl
- ENSG00000186866
- Chromosome
- 21
- Canonical length
- 429 aa
- Protein class
- Enzymes, Predicted intracellular proteins
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
429 residues, UniProt reviewed canonical sequence.
>Q9Y2G5|POFUT2
1 MATLSFVFLL LGAVSWPPAS ASGQEFWPGQ SAADILSGAA SRRRYLLYDV NPPEGFNLRR
61 DVYIRIASLL KTLLKTEEWV LVLPPWGRLY HWQSPDIHQV RIPWSEFFDL PSLNKNIPVI
121 EYEQFIAESG GPFIDQVYVL QSYAEGWKEG TWEEKVDERP CIDQLLYSQD KHEYYRGWFW
181 GYEETRGLNV SCLSVQGSAS IVAPLLLRNT SARSVMLDRA ENLLHDHYGG KEYWDTRRSM
241 VFARHLREVG DEFRSRHLNS TDDADRIPFQ EDWMKMKVKL GSALGGPYLG VHLRRKDFIW
301 GHRQDVPSLE GAVRKIRSLM KTHRLDKVFV ATDAVRKEYE ELKKLLPEMV RFEPTWEELE
361 LYKDGGVAII DQWICAHARF FIGTSVSTFS FRIHEEREIL GLDPKTTYNR FCGDQEKACE
421 QPTHWKITYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against POFUT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 31 nTPM
Expression across tissuesHPA
Tissue
- pituitary gland: 31 nTPM
- ovary: 27 nTPM
- choroid plexus: 24 nTPM
- blood vessel: 21 nTPM
- thyroid gland: 21 nTPM
- adrenal gland: 20 nTPM
Single-cell type
- late spermatids: 77 nCPM
- late primary spermatocytes: 51 nCPM
- endometrial ciliated cells: 43 nCPM
- early spermatids: 39 nCPM
- fallopian tube ciliated cells: 39 nCPM
- respiratory ciliated cells: 34 nCPM
Immune cell
- eosinophil: 0.8 nTPM
- MAIT T-cell: 0.5 nTPM
- neutrophil: 0.5 nTPM
- naive CD4 T-cell: 0.4 nTPM
- naive CD8 T-cell: 0.4 nTPM
- plasmacytoid DC: 0.4 nTPM
Brain region
- choroid plexus: 36 nTPM
- hypothalamus: 20 nTPM
- midbrain: 17 nTPM
- medulla oblongata: 16 nTPM
- pons: 16 nTPM
- thalamus: 14 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.74
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.16
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- fucose metabolic process
- mesoderm formation
- positive regulation of protein folding
- protein O-linked glycosylation via fucose
- regulation of epithelial to mesenchymal transition
- regulation of gene expression
- regulation of secretion
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- GDP-fucose protein O-fucosyltransferase
- GDP-fucose protein O-fucosyltransferase
- GDP-fucose protein O-fucosyltransferase 2-like
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads POFUT2 as an antibody target. Whether an autoantibody or antibody against POFUT2 could matter depends on whether native POFUT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
POFUT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label POFUT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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