EPS8 Chromosome 12
EGFR pathway substrate 8, signaling adaptor
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What This Gene Does
This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
EPS8 signaling adaptor family
Locus Type
gene with protein product
Location
12p12.3
Ensembl
ENSG00000151491
Associated Conditions (4)
Deafness
Inborn genetic diseases
EPS8-related disorder
Autosomal recessive nonsyndromic hearing loss 102
Key Variants
RS138455166
Conflicting classifications of pathogenicity
Health Risk
RS139258361
Conflicting classifications of pathogenicity
Deafness, Inborn genetic diseases, Deafness
Health Risk
RS141592108
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142733590
Conflicting classifications of pathogenicity
EPS8-related disorder, EPS8-related disorder
Health Risk
RS145722981
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149455769
Conflicting classifications of pathogenicity
EPS8-related disorder, EPS8-related disorder
Health Risk
RS184886917
Conflicting classifications of pathogenicity
Health Risk
RS200844984
Conflicting classifications of pathogenicity
EPS8-related disorder, EPS8-related disorder
Health Risk
RS201875630
Conflicting classifications of pathogenicity
EPS8-related disorder, EPS8-related disorder
Health Risk
RS202097537
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 102, EPS8-related disorder, Autosomal recessive nonsyndromic hearing loss 102
Health Risk
RS74888964
Conflicting classifications of pathogenicity
EPS8-related disorder, Inborn genetic diseases, EPS8-related disorder
Health Risk
RS758506896
Conflicting classifications of pathogenicity
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138455166 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139258361 | Health Risk | Conflicting classifications of pathogenicity | Deafness, Inborn genetic diseases, Deafness |
| RS141592108 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142733590 | Health Risk | Conflicting classifications of pathogenicity | EPS8-related disorder, EPS8-related disorder |
| RS145722981 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149455769 | Health Risk | Conflicting classifications of pathogenicity | EPS8-related disorder, EPS8-related disorder |
| RS184886917 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200844984 | Health Risk | Conflicting classifications of pathogenicity | EPS8-related disorder, EPS8-related disorder |
| RS201875630 | Health Risk | Conflicting classifications of pathogenicity | EPS8-related disorder, EPS8-related disorder |
| RS202097537 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 102, EPS8-related disorder, Autosomal recessive nonsyndromic hearing loss 102 |
| RS74888964 | Health Risk | Conflicting classifications of pathogenicity | EPS8-related disorder, Inborn genetic diseases, EPS8-related disorder |
| RS758506896 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773161130 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS77383735 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 102, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 102 |
| RS1945336251 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 102, Autosomal recessive nonsyndromic hearing loss 102 |
| RS1945698201 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 102, Autosomal recessive nonsyndromic hearing loss 102 |
| RS1565473322 | Health Risk | Pathogenic | — |
| RS2135785787 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 102, Autosomal recessive nonsyndromic hearing loss 102 |
| RS2135847098 | Health Risk | Pathogenic | — |
| RS2135847318 | Health Risk | Pathogenic | — |
| RS2540431049 | Health Risk | Pathogenic | — |
| RS587777691 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 102, Autosomal recessive nonsyndromic hearing loss 102 |