Identity
HGNC
LOCATION
1q23.1
LOCUSID
ALIAS
EL2,HPP,HS3,SPH3,SPTA
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: 6708
MIM: 182860
HGNC: 11272
Ensembl: ENSG00000163554
Variants:
dbSNP: 6708
ClinVar: 6708
TCGA: ENSG00000163554
COSMIC: SPTA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163554 | ENST00000643759 | P02549 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37016817 | 2023 | Hereditary elliptocytosis: A novel mutation in the SPTA1 gene and diagnosis after a stroke in paediatric patients. A two-case report. | 0 |
| 37016817 | 2023 | Hereditary elliptocytosis: A novel mutation in the SPTA1 gene and diagnosis after a stroke in paediatric patients. A two-case report. | 0 |
| 35638908 | 2022 | Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis. | 0 |
| 35961434 | 2022 | Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing. | 1 |
| 35638908 | 2022 | Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis. | 0 |
| 35961434 | 2022 | Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing. | 1 |
| 32287101 | 2021 | A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. | 0 |
| 33556202 | 2021 | Novel mechanism of hereditary pyropoikilocytosis phenotype due to co-inheritance of β globin and α spectrin mutations. | 0 |
| 33620149 | 2021 | Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis. | 10 |
| 34201899 | 2021 | Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients. | 13 |
| 32287101 | 2021 | A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. | 0 |
| 33556202 | 2021 | Novel mechanism of hereditary pyropoikilocytosis phenotype due to co-inheritance of β globin and α spectrin mutations. | 0 |
| 33620149 | 2021 | Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis. | 10 |
| 34201899 | 2021 | Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients. | 13 |
| 31854503 | 2020 | A family affair-Severe fetal and neonatal hemolytic anemia due to novel alpha-spectrin mutations in two siblings. | 0 |
Citation
Dessen P
SPTA1 (spectrin alpha, erythrocytic 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/42382/spta1-(spectrin-alpha-erythrocytic-1)
