ELP2 Chromosome 18
Elongator acetyltransferase complex subunit 2
Upload your DNA to see your personal genotypes for variants in ELP2.
What This Gene Does
The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]
Gene Info
Gene Group
"WD repeat domain containing|Elongator acetyltransferase complex "
Locus Type
gene with protein product
Location
18q12.2
Ensembl
ENSG00000134759
Associated Conditions (6)
Inborn genetic diseases
ELP2-related disorder
Intellectual disability
autosomal recessive 58
Profound intellectual disability
See cases
Key Variants
RS138742252
Conflicting classifications of pathogenicity
Inborn genetic diseases, ELP2-related disorder, Inborn genetic diseases
Health Risk
RS35629953
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 58, Inborn genetic diseases
Health Risk
RS529659464
Conflicting classifications of pathogenicity
Profound intellectual disability, Intellectual disability, autosomal recessive 58
Health Risk
RS553697188
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 58, See cases
Health Risk
RS74438152
Conflicting classifications of pathogenicity
ELP2-related disorder, ELP2-related disorder
Health Risk
RS767713084
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal recessive 58
Health Risk
RS1283454201
Likely pathogenic
Health Risk
RS1331690035
Likely pathogenic
Profound intellectual disability, Profound intellectual disability
Health Risk
RS1403940898
Likely pathogenic
Intellectual disability, autosomal recessive 58, Intellectual disability
Health Risk
RS2090515872
Likely pathogenic
Profound intellectual disability, Profound intellectual disability
Health Risk
RS2511279303
Likely pathogenic
Intellectual disability, autosomal recessive 58, Intellectual disability
Health Risk
RS780652067
Likely pathogenic
Intellectual disability, autosomal recessive 58, Intellectual disability
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138742252 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ELP2-related disorder, Inborn genetic diseases |
| RS35629953 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 58, Inborn genetic diseases |
| RS529659464 | Health Risk | Conflicting classifications of pathogenicity | Profound intellectual disability, Intellectual disability, autosomal recessive 58 |
| RS553697188 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 58, See cases |
| RS74438152 | Health Risk | Conflicting classifications of pathogenicity | ELP2-related disorder, ELP2-related disorder |
| RS767713084 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal recessive 58 |
| RS1283454201 | Health Risk | Likely pathogenic | — |
| RS1331690035 | Health Risk | Likely pathogenic | Profound intellectual disability, Profound intellectual disability |
| RS1403940898 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 58, Intellectual disability |
| RS2090515872 | Health Risk | Likely pathogenic | Profound intellectual disability, Profound intellectual disability |
| RS2511279303 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 58, Intellectual disability |
| RS780652067 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 58, Intellectual disability |
| RS867944805 | Health Risk | Likely pathogenic | ELP2-related disorder, ELP2-related disorder |
| RS1400164869 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 58, Intellectual disability |
| RS2090721527 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS772450541 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 58, Intellectual disability |
| RS371310428 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 58, Intellectual disability |
| RS773432002 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, ELP2-related disorder, Intellectual disability |