Entity Details
Primary name |
SPNS2_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q8IVW8 |
EntryName | SPNS2_HUMAN |
FullName | Protein spinster homolog 2 |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 549 |
SequenceStatus | complete |
DateCreated | 2007-10-02 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Cell membrane |
Endosome membrane |
Domains
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Domain | Name | Category | Type |
IPR011701 | Major facilitator superfamily | Family | Family |
IPR020846 | Major facilitator superfamily domain | Domain | Domain |
IPR036259 | MFS transporter superfamily | Family | Homologous superfamily |
Diseases
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Disease ID | Source | Name | Description |
618457 | OMIM | Deafness, autosomal recessive, 115 (DFNB115) | A form of non-syndromic deafness characterized by severe sensorineural hearing impairment in early childhood. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
Interactor | Partner | Sources | Publications | Link |