ELP4 (elongator acetyltransferase complex subunit 4)

2019-08-01  

Identity

HGNC
LOCATION
11p13
LOCUSID
ALIAS
AN,AN2,C11orf19,PAX6NEB,PAXNEB,dJ68P15A.1,hELP4

Other Information

Locus ID:

NCBI: 26610
MIM: 606985
HGNC: 1171
Ensembl: ENSG00000109911

Variants:

dbSNP: 26610
ClinVar: 26610
TCGA: ENSG00000109911
COSMIC: ELP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109911ENST00000350638A0A1X7SBS0
ENSG00000109911ENST00000379163Q96EB1
ENSG00000109911ENST00000395934G5E9D4
ENSG00000109911ENST00000474374E9PPJ9
ENSG00000109911ENST00000638184A0A1W2PP47
ENSG00000109911ENST00000638317A0A1W2PQW5
ENSG00000109911ENST00000638347A0A1W2PRF0
ENSG00000109911ENST00000638376A0A1W2PP49
ENSG00000109911ENST00000638482A0A1W2PPP6
ENSG00000109911ENST00000638764A0A1W2PPR3
ENSG00000109911ENST00000638917A0A1W2PQA7
ENSG00000109911ENST00000638984A0A1W2PS44
ENSG00000109911ENST00000639097A0A1W2PNW2
ENSG00000109911ENST00000639182A0A1W2PNY4
ENSG00000109911ENST00000639570A0A1W2PQZ6
ENSG00000109911ENST00000639878A0A1W2PNY5
ENSG00000109911ENST00000640081A0A1W2PQ05
ENSG00000109911ENST00000640231A0A1W2PRF5
ENSG00000109911ENST00000640342A0A1W2PRJ0
ENSG00000109911ENST00000640533A0A1W2PS93
ENSG00000109911ENST00000640790A0A1W2PNF7
ENSG00000109911ENST00000640954A0A1W2PR08
ENSG00000109911ENST00000640961Q96EB1

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191729912009Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).46
249956712014Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.17
260106552015Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.10
253015252014Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population.8
298053032018Elongator promotes the migration and invasion of hepatocellular carcinoma cell by the phosphorylation of AKT.3
317436162019Association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst.1

Citation

Dessen P

ELP4 (elongator acetyltransferase complex subunit 4)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58087/elp4