SPTBN5 Chromosome 15
Spectrin beta, non-erythrocytic 5
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What This Gene Does
Enables cytoskeletal protein binding activity; dynein intermediate chain binding activity; and identical protein binding activity. Acts upstream of or within Golgi organization and lysosomal transport. Located in cytoplasm; photoreceptor connecting cilium; and photoreceptor disc membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Spectrins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q21
Ensembl
ENSG00000137877
Associated Conditions (7)
SPTBN5-related disorder
Neurodevelopmental disorder
Sarcoma
Thymoma
Gastric cancer
Malignant tumor of esophagus
Cervical cancer
Key Variants
RS141541070
Conflicting classifications of pathogenicity
SPTBN5-related disorder, SPTBN5-related disorder
Health Risk
RS200163654
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Sarcoma, Thymoma
Health Risk
RS371741201
Conflicting classifications of pathogenicity
Health Risk
RS376262153
Conflicting classifications of pathogenicity
Health Risk
RS55807335
Conflicting classifications of pathogenicity
Health Risk
RS776261110
Conflicting classifications of pathogenicity
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141541070 | Health Risk | Conflicting classifications of pathogenicity | SPTBN5-related disorder, SPTBN5-related disorder |
| RS200163654 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Sarcoma, Thymoma |
| RS371741201 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376262153 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS55807335 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776261110 | Health Risk | Conflicting classifications of pathogenicity | — |