SPTAN1 Chromosome 9
Spectrin alpha, non-erythrocytic 1
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What This Gene Does
Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
Gene Info
Gene Group
"EF-hand domain containing|Spectrins"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000197694
Associated Conditions (39)
Early-infantile DEE
Developmental and epileptic encephalopathy
5
Inborn genetic diseases
Neuronopathy
distal hereditary motor
autosomal dominant 11
Spastic paraplegia 91
autosomal dominant
with or without cerebellar ataxia
Developmental delay with or without epilepsy
SPTAN1-related disorder
Clear cell carcinoma of kidney
Colon adenocarcinoma
Gastric cancer
Thymoma
Melanoma
Familial cancer of breast
Bilateral tonic-clonic seizure
Neuromuscular disease
+19 more conditions
Key Variants
RS1003067844
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1057520841
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 5, Early-infantile DEE
Health Risk
RS1057521149
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1057523269
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE, Early-infantile DEE
Health Risk
RS1176851202
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 5, Early-infantile DEE
Health Risk
RS11792065
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1232614751
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 5, Early-infantile DEE
Health Risk
RS1265382491
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1276832919
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1317904463
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal dominant 11
Health Risk
RS1334812460
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1336849921
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 5, Inborn genetic diseases
Health Risk
All Variants (288)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1856116625 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 5, Developmental and epileptic encephalopathy |
| RS1856640613 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 5, Developmental and epileptic encephalopathy |
| RS1859912470 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131012464 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131088567 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131239154 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131360489 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2131635386 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant 11 |
| RS2131952314 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2132089818 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 5, Developmental and epileptic encephalopathy |
| RS2132090668 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2132106592 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 5, Developmental and epileptic encephalopathy |
| RS2540898617 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2540930729 | Health Risk | Pathogenic | — |
| RS2541053697 | Health Risk | Pathogenic | — |
| RS2541452695 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2541940200 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2541951817 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2542207780 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant 11 |
| RS2542380737 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 5, Developmental and epileptic encephalopathy |
| RS2542380807 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2542385486 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2542397448 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS398122865 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 5, Developmental and epileptic encephalopathy |
| RS767067922 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 5, Early-infantile DEE |
| RS1131691643 | Health Risk | Pathogenic/Likely pathogenic | Congenital cerebellar hypoplasia, Developmental and epileptic encephalopathy, 5 |
| RS1554768992 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 5, Early-infantile DEE |
| RS1858669268 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 5, Spastic paraplegia 91 |
| RS1859859572 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 5, Early-infantile DEE |
| RS2131317641 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 5, Developmental and epileptic encephalopathy |
| RS2131938862 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2541012589 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant 11 |
| RS2541168710 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2541454325 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant 11 |
| RS2542169047 | Health Risk | Pathogenic/Likely pathogenic | SPTAN1-related disorder, Early-infantile DEE, SPTAN1-related disorder |
| RS587784438 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 5, SPTAN1-related disorder |
| RS587784440 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 5, Undetermined early-onset epileptic encephalopathy |
| RS796053335 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 5 |