Property Summary

NCBI Gene PubMed Count 13
PubMed Score 12.86
PubTator Score 8.93

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count P-value
osteosarcoma 7933 3.5e-10
ovarian cancer 8491 5.7e-06
astrocytoma 1493 2.4e-03
ependymoma 2514 2.7e-02
Disease Target Count Z-score Confidence
Congenital disorder of glycosylation 53 3.216 1.6

Expression

  Differential Expression (4)

Disease log2 FC p
ependymoma 1.200 2.7e-02
osteosarcoma 2.352 3.5e-10
astrocytoma 1.300 2.4e-03
ovarian cancer 1.400 5.7e-06

Protein-protein Interaction (7)

Gene RIF (3)

PMID Text
25544610 POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation.
22588082 Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation.
20549515 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MATLSFVFLLLGAVSWPPASASGQEFWPGQSAADILSGAASRRRYLLYDVNPPEGFNLRRDVYIRIASLL      1 - 70
KTLLKTEEWVLVLPPWGRLYHWQSPDIHQVRIPWSEFFDLPSLNKNIPVIEYEQFIAESGGPFIDQVYVL     71 - 140
QSYAEGWKEGTWEEKVDERPCIDQLLYSQDKHEYYRGWFWGYEETRGLNVSCLSVQGSASIVAPLLLRNT    141 - 210
SARSVMLDRAENLLHDHYGGKEYWDTRRSMVFARHLREVGDEFRSRHLNSTDDADRIPFQEDWMKMKVKL    211 - 280
GSALGGPYLGVHLRRKDFIWGHRQDVPSLEGAVRKIRSLMKTHRLDKVFVATDAVRKEYEELKKLLPEMV    281 - 350
RFEPTWEELELYKDGGVAIIDQWICAHARFFIGTSVSTFSFRIHEEREILGLDPKTTYNRFCGDQEKACE    351 - 420
QPTHWKITY                                                                 421 - 429
//

Text Mined References (17)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25544610 2015 Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.
22588082 2012 Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation.
20549515 2010 Genome-wide searching of rare genetic variants in WTCCC data.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17395589 2007 O-fucosylation is required for ADAMTS13 secretion.
17395588 2007 O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily.
16464858 2006 Two distinct pathways for O-fucosylation of epidermal growth factor-like or thrombospondin type 1 repeats.
16464857 2006 Protein O-fucosyltransferase 2 adds O-fucose to thrombospondin type 1 repeats.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15233996 2004 The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
12966037 2003 A new superfamily of protein-O-fucosyltransferases, alpha2-fucosyltransferases, and alpha6-fucosyltransferases: phylogeny and identification of conserved peptide motifs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11067851 2001 C-mannosylation and O-fucosylation of the thrombospondin type 1 module.
10830953 2000 The DNA sequence of human chromosome 21.
10231032 1999 Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.