ESPN Chromosome 1
Espin
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What This Gene Does
This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
1p36.31
Ensembl
ENSG00000187017
Associated Conditions (13)
ESPN-related disorder
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 36
Usher syndrome
type 1M
Deafness
without vestibular involvement
autosomal dominant
Rare genetic deafness
Usher syndrome type 1
autosomal recessive 36
Hearing loss
autosomal recessive
Key Variants
RS1052745208
Conflicting classifications of pathogenicity
ESPN-related disorder, Inborn genetic diseases, ESPN-related disorder
Health Risk
RS113467202
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139223525
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143645714
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145306517
Conflicting classifications of pathogenicity
ESPN-related disorder, ESPN-related disorder
Health Risk
RS147707189
Conflicting classifications of pathogenicity
Inborn genetic diseases, ESPN-related disorder, Inborn genetic diseases
Health Risk
RS148975469
Conflicting classifications of pathogenicity
Health Risk
RS200429314
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368795540
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS552379031
Conflicting classifications of pathogenicity
Health Risk
RS752185152
Conflicting classifications of pathogenicity
Inborn genetic diseases, ESPN-related disorder, Inborn genetic diseases
Health Risk
RS761087054
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 36, Usher syndrome, type 1M
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1052745208 | Health Risk | Conflicting classifications of pathogenicity | ESPN-related disorder, Inborn genetic diseases, ESPN-related disorder |
| RS113467202 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139223525 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143645714 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145306517 | Health Risk | Conflicting classifications of pathogenicity | ESPN-related disorder, ESPN-related disorder |
| RS147707189 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ESPN-related disorder, Inborn genetic diseases |
| RS148975469 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200429314 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368795540 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS552379031 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752185152 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ESPN-related disorder, Inborn genetic diseases |
| RS761087054 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 36, Usher syndrome, type 1M |
| RS771737095 | Health Risk | Conflicting classifications of pathogenicity | ESPN-related disorder, ESPN-related disorder |
| RS776413333 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS972673766 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS984812540 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1220317427 | Health Risk | Likely pathogenic | — |
| RS1485674839 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36 |
| RS1569771486 | Health Risk | Likely pathogenic | Deafness, without vestibular involvement, autosomal dominant |
| RS1643945526 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36 |
| RS1644131579 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36 |
| RS2522706561 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2522812173 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS752649606 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36 |
| RS1046987961 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36 |
| RS121908134 | Health Risk | Pathogenic | Deafness, without vestibular involvement, autosomal dominant |
| RS121908136 | Health Risk | Pathogenic | Deafness, without vestibular involvement, autosomal dominant |
| RS1557690051 | Health Risk | Pathogenic | — |
| RS1557720377 | Health Risk | Pathogenic | Usher syndrome type 1, Usher syndrome, type 1M |
| RS1569712066 | Health Risk | Pathogenic | Deafness, autosomal recessive 36, without vestibular involvement |
| RS1569726455 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36 |
| RS1569770998 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36 |
| RS1643944047 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36 |
| RS2148538836 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36 |
| RS2522884028 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36 |
| RS754472294 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 36, Hearing loss, autosomal recessive |