GOLM2
Homo sapiens
Gene Name: golgi membrane protein 2
Aliases: H63; CASC4
Chromosome No: 15
Chromosome Band: 15q15.3
Genetic Category: Rare Single Gene variant-
Aliases: H63; CASC4
Chromosome No: 15
Chromosome Band: 15q15.3
Genetic Category: Rare Single Gene variant-
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 0
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare variants in the GOLM2 gene (formerly known as the CASC4 gene) have been identified with autism (Pinto et al., 2010).
Molecular Function
The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Recent Recommendation
A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.