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: 64207
MIM: 611720
HGNC: 14282
Ensembl: ENSG00000119669
Variants:
dbSNP: 64207
ClinVar: 64207
TCGA: ENSG00000119669
COSMIC: IRF2BPL
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000119669 | ENST00000238647 | Q9H1B7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38481258 | 2024 | De novo variants of IRF2BPL result in developmental epileptic disorder. | 0 |
| 38650104 | 2024 | Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation. | 0 |
| 38481258 | 2024 | De novo variants of IRF2BPL result in developmental epileptic disorder. | 0 |
| 38650104 | 2024 | Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation. | 0 |
| 37114479 | 2023 | IRF2BPL as a novel causative gene for progressive myoclonus epilepsy. | 5 |
| 37114479 | 2023 | IRF2BPL as a novel causative gene for progressive myoclonus epilepsy. | 5 |
| 34864472 | 2022 | Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration. | 5 |
| 34864472 | 2022 | Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration. | 5 |
| 34102826 | 2021 | [Clinical features of epilepsy in children with IRF2BPL gene variation]. | 1 |
| 34102826 | 2021 | [Clinical features of epilepsy in children with IRF2BPL gene variation]. | 1 |
| 31729144 | 2020 | IRF2BPL gene variants: One new case. | 3 |
| 31729144 | 2020 | IRF2BPL gene variants: One new case. | 3 |
| 30166628 | 2019 | De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. | 17 |
| 30166628 | 2019 | De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. | 17 |
| 17627301 | 2007 | Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis. | 52 |
Citation
Dessen P
IRF2BPL (interferon regulatory factor 2 binding protein like)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64663/irf2bpl-(interferon-regulatory-factor-2-binding-protein-like)
