EXPH5 Chromosome 11
Exophilin 5
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What This Gene Does
The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Associated Conditions (5)
EXPH5-related disorder
Inborn genetic diseases
Epidermolysis bullosa simplex 4
localized or generalized intermediate
autosomal recessive
Key Variants
RS114599272
Conflicting classifications of pathogenicity
EXPH5-related disorder, Inborn genetic diseases, EXPH5-related disorder
Health Risk
RS115033293
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138271058
Conflicting classifications of pathogenicity
Health Risk
RS141078173
Conflicting classifications of pathogenicity
EXPH5-related disorder, Inborn genetic diseases, EXPH5-related disorder
Health Risk
RS141592774
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142805294
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
Health Risk
RS145231502
Conflicting classifications of pathogenicity
Inborn genetic diseases, EXPH5-related disorder, Inborn genetic diseases
Health Risk
RS146199863
Conflicting classifications of pathogenicity
Health Risk
RS190476119
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201149792
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS763170220
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
Health Risk
RS1228319313
Pathogenic
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114599272 | Health Risk | Conflicting classifications of pathogenicity | EXPH5-related disorder, Inborn genetic diseases, EXPH5-related disorder |
| RS115033293 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138271058 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141078173 | Health Risk | Conflicting classifications of pathogenicity | EXPH5-related disorder, Inborn genetic diseases, EXPH5-related disorder |
| RS141592774 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142805294 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
| RS145231502 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, EXPH5-related disorder, Inborn genetic diseases |
| RS146199863 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190476119 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201149792 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763170220 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
| RS1228319313 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
| RS1305450457 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
| RS2135912697 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
| RS2135920313 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
| RS2135924347 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
| RS2135927905 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
| RS34788119 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS749309384 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
| RS763718499 | Health Risk | Pathogenic | — |
| RS763930645 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |
| RS747159785 | Health Risk | Pathogenic/Likely pathogenic | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive |