Property Summary

NCBI Gene PubMed Count 8
Grant Count 3
R01 Count 2
Funding $266,333.94
PubMed Score 7.49
PubTator Score 5.16

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.149 0.003
subependymal giant cell astrocytoma -1.183 0.007
lung adenocarcinoma -1.100 0.000
pituitary cancer 1.400 0.000

Synonym

Accession Q8NAT1 B3KWC3 Q96SY3 POMGnT2
Symbols AGO61
GTDC2
MDDGA8
C3orf39

Gene

PANTHER Protein Class (2)

Gene RIF (2)

PMID Text
24041696 GTDC2 generates CTD110.6 antibody-reactive N-acetylglucosamine epitopes on the O-mannosylated alpha-dystroglycan.
22958903 Using WES in consanguineous WWS-affected families, we found multiple deleterious mutations in GTDC2 (also known as AGO61). .

AA Sequence

MHLSAVFNALLVSVLAAVLWKHVRLREHAATLEEELALSRQATEPAPALRIDYPKALQILMEGGTHMVCT      1 - 70
GRTHTDRICRFKWLCYSNEAEEFIFFHGNTSVMLPNLGSRRFQPALLDLSTVEDHNTQYFNFVELPAAAL     71 - 140
RFMPKPVFVPDVALIANRFNPDNLMHVFHDDLLPLFYTLRQFPGLAHEARLFFMEGWGEGAHFDLYKLLS    141 - 210
PKQPLLRAQLKTLGRLLCFSHAFVGLSKITTWYQYGFVQPQGPKANILVSGNEIRQFARFMTEKLNVSHT    211 - 280
GVPLGEEYILVFSRTQNRLILNEAELLLALAQEFQMKTVTVSLEDHTFADVVRLVSNASMLVSMHGAQLV    281 - 350
TTLFLPRGATVVELFPYAVNPDHYTPYKTLAMLPGMDLQYVAWRNMMPENTVTHPERPWDQGGITHLDRA    351 - 420
EQARILQSREVPRHLCCRNPEWLFRIYQDTKVDIPSLIQTIRRVVKGRPGPRKQKWTVGLYPGKVREARC    421 - 490
QASVHGASEARLTVSWQIPWNLKYLKVREVKYEVWLQEQGENTYVPYILALQNHTFTENIKPFTTYLVWV    491 - 560
RCIFNKILLGPFADVLVCNT                                                      561 - 580
//

Text Mined References (8)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24041696 2013 GTDC2 modifies O-mannosylated ?-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody.
23929950 2013 SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.
22958903 2012 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.