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Relevance to Autism

OGT was identified as a potential promising placental biomarker of maternal stress exposure that may relate to sex-biased outcomes in neurodevelopment; maternal stress is a key risk factor for neurodevelopmental disorders, including schizophrenia and autism, which often exhibit a sex bias in rates of presentation, age of onset, and symptom severity (Howerton et al., 2013).

Molecular Function

This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Glycosylates a large and diverse number of proteins including histone H2B, AKT1, PFKL, MLL5, MAPT/TAU and HCFC1 and can regulate their cellular processes via cross-talk between glycosylation and phosphorylation or by affecting proteolytic processing.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
O-GlcNAc transferase (OGT) as a placental biomarker of maternal stress and reprogramming of CNS gene transcription in development.
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
DD
Support
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnose...
Epilepsy/seizures
Support
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
ID
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN547R001 
 missense_variant 
 c.1701T>A 
 p.Asn567Lys 
 De novo 
  
 Unknown 
 GEN547R002 
 missense_variant 
 c.955G>A 
 p.Ala319Thr 
 Familial 
 Maternal 
 Multi-generational 
 GEN547R003 
 missense_variant 
 c.775G>A 
 p.Ala259Thr 
 Familial 
 Maternal 
  
 GEN547R004 
 splice_site_variant 
 c.1977+5A>C 
  
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 21
 
X
Deletion
 2
 
X
Duplication
 2
 
X
Duplication
 1
 
X
Deletion-Duplication
 15
 
X
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
C1ORF51 Circadian-associated transcriptional repressor 148523 Q8N365 IP; LC-MS/MS
Huttlin EL , et al. 2015
CAMK2D calcium/calmodulin-dependent protein kinase II delta 817 Q13557 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD2 chromodomain helicase DNA binding protein 2 1106 O14647 LC-MS/MS
Vertegaal AC , et al. 2006
CREB3 cAMP responsive element binding protein 3 NM_006368 O43889 IP; LC-MS/MS
Huttlin EL , et al. 2015
DDAH2 N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 23564 O95865 IP; LC-MS/MS
Huttlin EL , et al. 2015
E2F1 E2F transcription factor 1 1869 Q01094 Luciferase reporter assay; ChIP
Muthusamy S , et al. 2015
HCFC1 host cell factor C1 (VP16-accessory protein) 3054 P51610 in vitro binding assay; in vitro proteolysis assay
Bhuiyan T , et al. 2015
HCFC1R1 Host cell factor C1 regulator 1 54985 Q9NWW0-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
HCFC2 host cell factor C2 29915 Q9Y5Z7 IP; LC-MS/MS
Huttlin EL , et al. 2015
KMT2E lysine (K)-specific methyltransferase 2E 55904 Q8IZD2 IP/WB; In vivo ubiquitination assay; Co-localization; Size-exclusion chromatography (SEC); IP; LC-MS/MS
Ding X , et al. 2015
MLL5 lysine (K)-specific methyltransferase 2E NM_018682 Q8IZD2 MALDI-TOF; MS; IP/WB
Fujiki R , et al. 2009
THAP11 THAP domain containing 11 57215 Q96EK4 IP; LC-MS/MS
Huttlin EL , et al. 2015
THAP2 THAP domain containing, apoptosis associated protein 2 NM_031435 Q9H0W7 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRAK2 trafficking protein, kinesin binding 2 66008 O60296 IP; LC-MS/MS
Huttlin EL , et al. 2015
USP7 ubiquitin specific peptidase 7 (herpes virus-associated) 7874 Q93009 IP/WB; Co-localization; Size-exclusion chromatography (SEC)
Ding X , et al. 2015

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