Identity
HGNC
LOCATION
18q12.2
LOCUSID
ALIAS
MRT58,SHINC-2,STATIP1,StIP
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: 55250
MIM: 616054
HGNC: 18248
Ensembl: ENSG00000134759
Variants:
dbSNP: 55250
ClinVar: 55250
TCGA: ENSG00000134759
COSMIC: ELP2
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 |
|---|---|---|---|
| 36787709 | 2022 | Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings. | 0 |
| 36787709 | 2022 | Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings. | 0 |
| 33393008 | 2021 | Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder. | 0 |
| 33976153 | 2021 | Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. | 17 |
| 34653680 | 2021 | ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature. | 1 |
| 33393008 | 2021 | Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder. | 0 |
| 33976153 | 2021 | Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. | 17 |
| 34653680 | 2021 | ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature. | 1 |
| 32493705 | 2020 | Novel Variants of ELP2 and PIAS1 in the Interferon Gamma Signaling Pathway Are Associated with Non-Small Cell Lung Cancer Survival. | 2 |
| 32493705 | 2020 | Novel Variants of ELP2 and PIAS1 in the Interferon Gamma Signaling Pathway Are Associated with Non-Small Cell Lung Cancer Survival. | 2 |
| 25847581 | 2015 | ELP2 is a novel gene implicated in neurodevelopmental disabilities. | 42 |
| 25847581 | 2015 | ELP2 is a novel gene implicated in neurodevelopmental disabilities. | 42 |
| 25417721 | 2014 | Inhibition of STAT3-interacting protein 1 (STATIP1) promotes STAT3 transcriptional up-regulation and imatinib mesylate resistance in the chronic myeloid leukemia. | 4 |
| 25417721 | 2014 | Inhibition of STAT3-interacting protein 1 (STATIP1) promotes STAT3 transcriptional up-regulation and imatinib mesylate resistance in the chronic myeloid leukemia. | 4 |
| 22069317 | 2011 | 4-Phenylbutyrate stimulates Hsp70 expression through the Elp2 component of elongator and STAT-3 in cystic fibrosis epithelial cells. | 25 |
Citation
Dessen P
ELP2 (elongator acetyltransferase complex subunit 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62806/elp2-(elongator-acetyltransferase-complex-subunit-2)
