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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs146249322 RCV005906830
Cervical cancer Likely benign rs146249322 RCV005906832
Cholangiocarcinoma Likely benign rs146249322 RCV005907831
Clear cell carcinoma of kidney Likely benign rs146249322 RCV005906833
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Galactosemias Associate 31275443
Glioma Associate 30556882
Glomerulonephritis IGA Associate 31275443
Glycogen Storage Disease Type II Associate 28386079
Multiple Myeloma Inhibit 28903037
Multiple Myeloma Associate 28903037, 29695719, 35013207
Neoplasms Associate 29150481
Neoplasms Inhibit 30009504
Prostatic Hyperplasia Associate 19676094
Prostatic Intraepithelial Neoplasia Inhibit 29179998