TRIM33
Homo sapiens
Gene Name: Tripartite motif containing 33
Aliases: ECTO, PTC7, RFG7, TF1G, TIF1G, TIF1GAMMA, TIFGAMMA
Chromosome No: 1
Chromosome Band: 1p13.2
Genetic Category: Genetic association/Functional-Rare single gene variant
Aliases: ECTO, PTC7, RFG7, TF1G, TIF1G, TIF1GAMMA, TIFGAMMA
Chromosome No: 1
Chromosome Band: 1p13.2
Genetic Category: Genetic association/Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 3
Evidence score: 0
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 3
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Meta-analysis of two discovery cohorts of Chinese descent and three replication cohorts of European descent identified a non-synonymous SNP located in the TRIM33 gene (rs6537835) that showed significant association with ASD (P=3.26E-08) (Xia et al., 2013); significant differential expression of TRIM33 in the brains of ASD cases compared to controls was also observed in this report.
Molecular Function
Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN584C001
missense_variant
rs6537825
c.2519T>C;c.2591T>C
p.Ile840Thr;p.Ile864Thr
Discovery: two Chinese ASD cohorts composed of family-based and case-control samples (n=2150); Replicaton: three family-based ASD cohorts of European descent from AGRE, SFARI, and AGP
Discovery & Replication
GEN584C002
intron_variant
rs3827735
c.526+464G>T
minor allele, A
Discovery: two Chinese ASD cohorts composed of family-based and case-control samples (n=2150); Replicaton: three family-based ASD cohorts of European descent from AGRE, SFARI, and AGP
Discovery & Replication
GEN584C003
intergenic_variant
rs10858047
minor allele, C
Discovery: two Chinese ASD cohorts composed of family-based and case-control samples (n=2150); Replicaton: three family-based ASD cohorts of European descent from AGRE, SFARI, and AGP
Discovery & Replication
GEN584C004
intergenic_variant
rs10858046
T/C
Discovery: two Chinese ASD cohorts composed of family-based and case-control samples (n=2150)
Discovery
