ELL2 (elongation factor for RNA polymerase II 2)

2003-02-01 Affiliation

Identity

HGNC

ELL2

LOCATION

5q15

LOCUSID

22936

ALIAS

MRCCAT1

FUSION GENES

Show Gene Fusions

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: 22936
MIM: 601874
HGNC: 17064
Ensembl: ENSG00000118985

Variants:

dbSNP: 22936
ClinVar: 22936
TCGA: ENSG00000118985
COSMIC: ELL2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000118985	ENST00000237853	O00472
ENSG00000118985	ENST00000508757	H0Y8G1
ENSG00000118985	ENST00000513343	D6RC27
ENSG00000118985	ENST00000635633	A0A0U1RR08

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
RNA polymerase II transcribes snRNA genes	REACTOME	R-HSA-6807505

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19749764	2009	Transcription elongation factor ELL2 directs immunoglobulin secretion in plasma cells by stimulating altered RNA processing.	60
22483617	2012	The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription.	34
26007630	2015	Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.	30
25238757	2014	Transcription elongation factor ELL2 drives Ig secretory-specific mRNA production and the unfolded protein response.	19
28903037	2017	Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism.	10
28134250	2017	Structural basis for ELL2 and AFF4 activation of HIV-1 proviral transcription.	8
28870994	2017	Conditional deletion of ELL2 induces murine prostate intraepithelial neoplasia.	8
28531325	2017	Up-regulated microRNA-299 corrected with poor prognosis of glioblastoma multiforme patients by targeting ELL2.	6
29695719	2018	The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression.	6

Citation

Dessen P

ELL2 (elongation factor for RNA polymerase II 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40445/ell2-(elongation-factor-for-rna-polymerase-ii-2)