Identity
HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
DEE5,EIEE5,NEAS,SPTA2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6709
MIM: 182810
HGNC: 11273
Ensembl: ENSG00000197694
Variants:
dbSNP: 6709
ClinVar: 6709
TCGA: ENSG00000197694
COSMIC: SPTAN1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36331550 | 2023 | Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. | 1 |
| 36331550 | 2023 | Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. | 1 |
| 35150594 | 2022 | De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. | 6 |
| 35150594 | 2022 | De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. | 6 |
| 34067543 | 2021 | α-Fodrin in Cytoskeletal Organization and the Activity of Certain Key Microtubule Kinesins. | 1 |
| 34067543 | 2021 | α-Fodrin in Cytoskeletal Organization and the Activity of Certain Key Microtubule Kinesins. | 1 |
| 32236629 | 2020 | Expression and secretion of the pro‑inflammatory cytokine IL‑8 is increased in colorectal cancer cells following the knockdown of non‑erythroid spectrin αII. | 4 |
| 32811770 | 2020 | Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy. | 6 |
| 32236629 | 2020 | Expression and secretion of the pro‑inflammatory cytokine IL‑8 is increased in colorectal cancer cells following the knockdown of non‑erythroid spectrin αII. | 4 |
| 32811770 | 2020 | Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy. | 6 |
| 30856214 | 2019 | Downregulation of SPTAN1 is related to MLH1 deficiency and metastasis in colorectal cancer. | 18 |
| 31064843 | 2019 | Defining new mechanistic roles for αII spectrin in cardiac function. | 6 |
| 31332438 | 2019 | Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. | 13 |
| 31455186 | 2019 | α-Fodrin is required for the organization of functional microtubules during mitosis. | 4 |
| 31515523 | 2019 | SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia. | 7 |
Citation
Dessen P
SPTAN1 (spectrin alpha, non-erythrocytic 1)
Atlas Genet Cytogenet Oncol Haematol. 2009-05-01
Online version: http://atlasgeneticsoncology.org/gene/50896/sptan1-(spectrin-alpha-non-erythrocytic-1)
