UBE2H
Homo sapiens
Gene Name: ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)
Aliases: E2-20K, UBC8, UBCH, UBCH2
Chromosome No: 7
Chromosome Band: 7q32.2
Genetic Category: Genetic Association
Aliases: E2-20K, UBC8, UBCH, UBCH2
Chromosome No: 7
Chromosome Band: 7q32.2
Genetic Category: Genetic Association
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 5
Evidence score: null
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 5
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the UBE2H gene and autism in a French-Caucasian cohort (Vourc'h et al., 2003).
Molecular Function
The encoded protein has ubiquitin-protein ligase activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder.
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Rare
No Rare Variants Available
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN261C001
synonymous_variant
rs12539800
c.126A>G;c.336A>G;c.243A>G
p.(=)
French-Caucasian
Discovery
GEN261C002
2KB_upstream_variant
rs78661858
c.-1756T>C;c.-1925T>C
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
