EED Chromosome 11
Embryonic ectoderm development
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What This Gene Does
This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|Polycomb repressive complex 2|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q14.2
Ensembl
ENSG00000074266
Associated Conditions (4)
Cohen-Gibson syndrome
Inborn genetic diseases
Neurodevelopmental delay
Autism spectrum disorder
Key Variants
RS200197749
Conflicting classifications of pathogenicity
Cohen-Gibson syndrome, Inborn genetic diseases, Cohen-Gibson syndrome
Health Risk
RS1131692173
Likely pathogenic
Cohen-Gibson syndrome, Cohen-Gibson syndrome
Health Risk
RS1565706229
Likely pathogenic
Cohen-Gibson syndrome, Cohen-Gibson syndrome
Health Risk
RS1593776227
Likely pathogenic
Cohen-Gibson syndrome, Cohen-Gibson syndrome
Health Risk
RS2138241608
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2495862536
Likely pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1131692174
Pathogenic
Cohen-Gibson syndrome, Cohen-Gibson syndrome
Health Risk
RS1131692175
Pathogenic
Cohen-Gibson syndrome, Cohen-Gibson syndrome
Health Risk
RS1131692176
Pathogenic
Cohen-Gibson syndrome, Cohen-Gibson syndrome
Health Risk
RS2495876442
Pathogenic
Cohen-Gibson syndrome, Cohen-Gibson syndrome
Health Risk
RS1945710855
Pathogenic/Likely pathogenic
Cohen-Gibson syndrome, Cohen-Gibson syndrome
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200197749 | Health Risk | Conflicting classifications of pathogenicity | Cohen-Gibson syndrome, Inborn genetic diseases, Cohen-Gibson syndrome |
| RS1131692173 | Health Risk | Likely pathogenic | Cohen-Gibson syndrome, Cohen-Gibson syndrome |
| RS1565706229 | Health Risk | Likely pathogenic | Cohen-Gibson syndrome, Cohen-Gibson syndrome |
| RS1593776227 | Health Risk | Likely pathogenic | Cohen-Gibson syndrome, Cohen-Gibson syndrome |
| RS2138241608 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2495862536 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS1131692174 | Health Risk | Pathogenic | Cohen-Gibson syndrome, Cohen-Gibson syndrome |
| RS1131692175 | Health Risk | Pathogenic | Cohen-Gibson syndrome, Cohen-Gibson syndrome |
| RS1131692176 | Health Risk | Pathogenic | Cohen-Gibson syndrome, Cohen-Gibson syndrome |
| RS2495876442 | Health Risk | Pathogenic | Cohen-Gibson syndrome, Cohen-Gibson syndrome |
| RS1945710855 | Health Risk | Pathogenic/Likely pathogenic | Cohen-Gibson syndrome, Cohen-Gibson syndrome |