Gene Gene information from NCBI Gene database.
Entrez ID 22936
Gene name Elongation factor for RNA polymerase II 2
Gene symbol ELL2
Synonyms (NCBI Gene)
MRCCAT1
Chromosome 5
Chromosome location 5q15
miRNA miRNA information provided by mirtarbase database.
852
miRTarBase ID miRNA Experiments Reference
MIRT020029 hsa-miR-375 Microarray 20215506
MIRT024649 hsa-miR-215-5p Microarray 19074876
MIRT026909 hsa-miR-192-5p Microarray 19074876
MIRT537708 hsa-miR-548n PAR-CLIP 20371350
MIRT537707 hsa-miR-548az-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000987 Function Cis-regulatory region sequence-specific DNA binding IBA
GO:0005515 Function Protein binding IPI 21729782, 28514442, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601874 17064 ENSG00000118985
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00472
Protein name RNA polymerase II elongation factor ELL2
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. Component
PDB 2E5N , 5JW9 , 7OKX , 7OKY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10390 ELL 11 291 RNA polymerase II elongation factor ELL Family
PF07303 Occludin_ELL 532 633 Occludin homology domain Domain
Sequence
MAAGGTGGLREEQRYGLSCGRLGQDNITVLHVKLTETAIRALETYQSHKNLIPFRPSIQF
QGLHGLVKIPKNDPLNEVHNFNFYLSNVGKDNPQGSFDCIQQTFSSSGASQLNCLGFIQD
KITVCATNDSYQMTRERMTQAEEESRNRSTKVIKPGGPYVGKRVQIRKAPQAVSDTVPER
KRSTPMNPANTIRKTHSSSTISQRPYRDRVIHLLALKAYKKPELLARLQKDGVNQKDKNS
LGAILQQVANLNSKDLSYTLKDYVFKELQRDWPGYSEIDRRSLESVLSRKL
NPSQNAAGT
SRSESPVCSSRDAVSSPQKRLLDSEFIDPLMNKKARISHLTNRVPPTLNGHLNPTSEKSA
AGLPLPPAAAAIPTPPPLPSTYLPISHPPQIVNSNSNSPSTPEGRGTQDLPVDSFSQNDS
IYEDQQDKYTSRTSLETLPPGSVLLKCPKPMEENHSMSHKKSKKKSKKHKEKDQIKKHDI
ETIEEKEEDLKREEEIAKLNNSSPNSSGGVKEDCTASMEPSAIELPDYLIKYIAIVSYEQ
RQNYKDDFNAEYDEYRALHARMETVARRFIKLDAQRKRLSPGSKEYQNVHEEVLQEYQKI
KQSSPNYHEEKYRCEYLHNKLAHIKRLIGEFDQ
QQAESWS
Sequence length 640
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Viral life cycle - HIV-1   RNA polymerase II transcribes snRNA genes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA 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
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 28870994
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia GWASCAT_DG 28112199
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 28659173
★☆☆☆☆
Found in Text Mining only
Galactosemias Galactosemia Pubtator 31275443 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 28531325
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 30556882
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 30556882 Associate
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis IGA Iga nephropathy Pubtator 31275443 Associate
★☆☆☆☆
Found in Text Mining only
Glycogen Storage Disease Type II Glycogen storage disease Pubtator 28386079 Associate
★☆☆☆☆
Found in Text Mining only
Hodgkin Disease Hodgkin Disease GWASCAT_DG 28112199
★☆☆☆☆
Found in Text Mining only