EPS8L2 Chromosome 11
EPS8 signaling adaptor L2
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What This Gene Does
This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
EPS8 signaling adaptor family
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000177106
Associated Conditions (3)
EPS8L2-related disorder
Hearing loss
autosomal recessive 106
Key Variants
RS138277885
Conflicting classifications of pathogenicity
EPS8L2-related disorder, EPS8L2-related disorder
Health Risk
RS140568715
Conflicting classifications of pathogenicity
Health Risk
RS151294547
Conflicting classifications of pathogenicity
Health Risk
RS369906914
Conflicting classifications of pathogenicity
Health Risk
RS558489382
Conflicting classifications of pathogenicity
Health Risk
RS755290745
Likely pathogenic
Health Risk
RS1554952193
Pathogenic
Hearing loss, autosomal recessive 106, Hearing loss
Health Risk
RS1554952443
Pathogenic
Hearing loss, autosomal recessive 106, Hearing loss
Health Risk
RS1862310921
Pathogenic
Health Risk
RS2133499883
Pathogenic
Hearing loss, autosomal recessive 106, Hearing loss
Health Risk
RS2494631340
Pathogenic
Health Risk
RS758700198
Pathogenic
Hearing loss, autosomal recessive 106, Hearing loss
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138277885 | Health Risk | Conflicting classifications of pathogenicity | EPS8L2-related disorder, EPS8L2-related disorder |
| RS140568715 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151294547 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369906914 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS558489382 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755290745 | Health Risk | Likely pathogenic | — |
| RS1554952193 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 106, Hearing loss |
| RS1554952443 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 106, Hearing loss |
| RS1862310921 | Health Risk | Pathogenic | — |
| RS2133499883 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 106, Hearing loss |
| RS2494631340 | Health Risk | Pathogenic | — |
| RS758700198 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 106, Hearing loss |
| RS779909774 | Health Risk | Pathogenic | — |