TGM3
Homo sapiens
Gene Name: transglutaminase 3
Aliases: TGE
Chromosome No: 20
Chromosome Band: 20p13
Genetic Category: Rare Single Gene variant
Aliases: TGE
Chromosome No: 20
Chromosome Band: 20p13
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 2
Annotated variants: 8
Associated CNVs: 6
Evidence score: 2
ASD Reports: 9
Recent Reports: 2
Annotated variants: 8
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
O'Roak et al. (2011) identified a de novo missense mutation in the TGM3 gene in an autistic proband. Several missense mutations were observed in controls.
Molecular Function
Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues, as well as conjugation of polyamines to proteins.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
The proximal promoter of the human transglutaminase 3 gene. Stratified squamous epithelial-specific expression in cultured cells is mediated by bin...
Highly Cited
Three-dimensional structure of the human transglutaminase 3 enzyme: binding of calcium ions changes structure for activation.
Recent Recommendation
Phospholipase C, Ca2, and calmodulin signaling are required for 5-HT2A receptor-mediated transamidation of Rac1 by transglutaminase.
Recent Recommendation
Transglutaminase-mediated intramolecular cross-linking of membrane-bound alpha-synuclein promotes amyloid formation in Lewy bodies.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN250R002
frameshift_variant
c.188del
p.Tyr63SerfsTer7
Familial
Paternal
Multiplex
GEN250R003
frameshift_variant
c.1694del
p.Lys565SerfsTer5
Familial
Paternal
Multiplex
Common
No Common Variants Available