DIP2B Chromosome 12
DIP2 acetate--CoA ligase B (putative)
Upload your DNA to see your personal genotypes for variants in DIP2B.
What This Gene Does
This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
DIP2 family
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000066084
Associated Conditions (3)
DIP2B-related disorder
Intellectual disability
FRA12A type
Key Variants
RS11169525
Conflicting classifications of pathogenicity
DIP2B-related disorder, DIP2B-related disorder
Health Risk
RS151181050
Conflicting classifications of pathogenicity
DIP2B-related disorder, DIP2B-related disorder
Health Risk
RS768972285
Conflicting classifications of pathogenicity
Intellectual disability, FRA12A type, Intellectual disability
Health Risk
RS2540165246
Likely pathogenic
Intellectual disability, FRA12A type, Intellectual disability
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11169525 | Health Risk | Conflicting classifications of pathogenicity | DIP2B-related disorder, DIP2B-related disorder |
| RS151181050 | Health Risk | Conflicting classifications of pathogenicity | DIP2B-related disorder, DIP2B-related disorder |
| RS768972285 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, FRA12A type, Intellectual disability |
| RS2540165246 | Health Risk | Likely pathogenic | Intellectual disability, FRA12A type, Intellectual disability |