Identity
HGNC
LOCATION
14q23.3
LOCUSID
ALIAS
EL3,HS2,HSPTB1,SPH2
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: 6710
MIM: 182870
HGNC: 11274
Ensembl: ENSG00000070182
Variants:
dbSNP: 6710
ClinVar: 6710
TCGA: ENSG00000070182
COSMIC: SPTB
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000070182 | ENST00000389720 | P11277 |
| ENSG00000070182 | ENST00000389722 | P11277 |
| ENSG00000070182 | ENST00000553938 | H0YJE6 |
| ENSG00000070182 | ENST00000644917 | P11277 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36765497 | 2023 | [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene]. | 0 |
| 36854399 | 2023 | [Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis]. | 0 |
| 36765497 | 2023 | [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene]. | 0 |
| 36854399 | 2023 | [Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis]. | 0 |
| 35099593 | 2022 | A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin. | 1 |
| 35726106 | 2022 | Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population. | 1 |
| 35099593 | 2022 | A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin. | 1 |
| 35726106 | 2022 | Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population. | 1 |
| 33620149 | 2021 | Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis. | 10 |
| 33943044 | 2021 | A novel essential splice site variant in SPTB in a large hereditary spherocytosis family. | 1 |
| 33974364 | 2021 | A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family. | 1 |
| 34140613 | 2021 | The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing. | 3 |
| 33620149 | 2021 | Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis. | 10 |
| 33943044 | 2021 | A novel essential splice site variant in SPTB in a large hereditary spherocytosis family. | 1 |
| 33974364 | 2021 | A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family. | 1 |
Citation
Dessen P
SPTB (spectrin beta, erythrocytic)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/42383/sptb
