Gene Gene information from NCBI Gene database.
Entrez ID 8178
Gene name Elongation factor for RNA polymerase II
Gene symbol ELL
Synonyms (NCBI Gene)
C19orf17ELL1MENPPP1R68
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
207
miRTarBase ID miRNA Experiments Reference
MIRT039101 hsa-miR-769-3p CLASH 23622248
MIRT960708 hsa-miR-1207-5p CLIP-seq
MIRT960709 hsa-miR-1238 CLIP-seq
MIRT960710 hsa-miR-1252 CLIP-seq
MIRT960711 hsa-miR-1269 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
EAF1 Activation 16006523
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000791 Component Euchromatin IDA 23932780
GO:0000987 Function Cis-regulatory region sequence-specific DNA binding IBA
GO:0001701 Process In utero embryonic development IEA
GO:0005515 Function Protein binding IPI 19389623, 19819239, 21729782, 22195968, 23932780, 24413172
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600284 23114 ENSG00000105656
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55199
Protein name RNA polymerase II elongation factor ELL (Eleven-nineteen lysine-rich leukemia protein)
Protein function Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongatio
PDB 2DOA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10390 ELL 6 292 RNA polymerase II elongation factor ELL Family
PF07303 Occludin_ELL 513 614 Occludin homology domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested. Highest levels found in placenta, skeletal muscle, testis and peripheral blood leukocytes.
Sequence
Sequence length 621
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Viral life cycle - HIV-1   Formation of RNA Pol II elongation complex
RNA Polymerase II Pre-transcription Events
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
TP53 Regulates Transcription of DNA Repair Genes
RNA polymerase II transcribes snRNA genes
RNA Polymerase II Transcription Elongation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 12446457, 12686606, 8639852
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 19405140, 30974445
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia, minimal differentiation Myeloid Leukemia BEFREE 28669059
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 23535729, 25751625, 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 31026346
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 23593120, 25227710 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease GWASCAT_DG 29212778
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Juvenile Myelomonocytic Leukemia Myelomonocytic Leukemia BEFREE 18617060
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 11238904, 12686606 Associate
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 12686606, 12773566, 20159561
★☆☆☆☆
Found in Text Mining only