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: 2035
MIM: 130500
HGNC: 3377
Ensembl: ENSG00000159023
Variants:
dbSNP: 2035
ClinVar: 2035
TCGA: ENSG00000159023
COSMIC: EPB41
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Neuronal System | REACTOME | R-HSA-112316 |
| Protein-protein interactions at synapses | REACTOME | R-HSA-6794362 |
| Interactions of neurexins and neuroligins at synapses | REACTOME | R-HSA-6794361 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA445876 | Tobacco Use Disorder | Disease | ClinicalAnnotation | associated | PD | ||
| PA448687 | bupropion | Chemical | ClinicalAnnotation | associated | PD | ||
| PA450626 | nicotine | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33242559 | 2021 | EPB41 suppresses the Wnt/β-catenin signaling in non-small cell lung cancer by sponging ALDOC. | 16 |
| 33942936 | 2021 | Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene. | 1 |
| 33242559 | 2021 | EPB41 suppresses the Wnt/β-catenin signaling in non-small cell lung cancer by sponging ALDOC. | 16 |
| 33942936 | 2021 | Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene. | 1 |
| 31776189 | 2020 | Epithelial-specific isoforms of protein 4.1R promote adherens junction assembly in maturing epithelia. | 2 |
| 31950797 | 2020 | [Identification of a Novel Mutation of EPB41 Gene in a Family Affected with Hereditary Elliptocytosis]. | 0 |
| 31776189 | 2020 | Epithelial-specific isoforms of protein 4.1R promote adherens junction assembly in maturing epithelia. | 2 |
| 31950797 | 2020 | [Identification of a Novel Mutation of EPB41 Gene in a Family Affected with Hereditary Elliptocytosis]. | 0 |
| 30227690 | 2018 | Lnc-EPB41-Protein Interactions Associated with Congenital Pouch Colon. | 3 |
| 30227690 | 2018 | Lnc-EPB41-Protein Interactions Associated with Congenital Pouch Colon. | 3 |
| 27981895 | 2017 | Alternative polyadenylation in a family of paralogous EPB41 genes generates protein 4.1 diversity. | 5 |
| 28570402 | 2017 | Genetic Factors Involved in Mandibular Prognathism. | 17 |
| 27981895 | 2017 | Alternative polyadenylation in a family of paralogous EPB41 genes generates protein 4.1 diversity. | 5 |
| 28570402 | 2017 | Genetic Factors Involved in Mandibular Prognathism. | 17 |
| 27453575 | 2016 | Integrative Functional Genomics Implicates EPB41 Dysregulation in Hepatocellular Carcinoma Risk. | 18 |
Citation
Dessen P
EPB41 (erythrocyte membrane protein band 4.1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46379/epb41
