Identity
HGNC
LOCATION
11p13
LOCUSID
ALIAS
AN,AN2,C11orf19,PAX6NEB,PAXNEB,dJ68P15A.1,hELP4
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: 26610
MIM: 606985
HGNC: 1171
Ensembl: ENSG00000109911
Variants:
dbSNP: 26610
ClinVar: 26610
TCGA: ENSG00000109911
COSMIC: ELP4
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| HATs acetylate histones | REACTOME | R-HSA-3214847 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31743616 | 2019 | Association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst. | 2 |
| 31743616 | 2019 | Association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst. | 2 |
| 29805303 | 2018 | Elongator promotes the migration and invasion of hepatocellular carcinoma cell by the phosphorylation of AKT. | 8 |
| 29805303 | 2018 | Elongator promotes the migration and invasion of hepatocellular carcinoma cell by the phosphorylation of AKT. | 8 |
| 26010655 | 2015 | Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. | 32 |
| 26010655 | 2015 | Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. | 32 |
| 24995671 | 2014 | Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. | 27 |
| 25301525 | 2014 | Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population. | 9 |
| 24995671 | 2014 | Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. | 27 |
| 25301525 | 2014 | Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population. | 9 |
| 19172991 | 2009 | Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). | 64 |
| 19172991 | 2009 | Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). | 64 |
Citation
Dessen P
ELP4 (elongator acetyltransferase complex subunit 4)
Atlas Genet Cytogenet Oncol Haematol. 2019-08-01
Online version: http://atlasgeneticsoncology.org/gene/58087/tumors-explorer/submit-meetings/
