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ELL2 elongation factor for RNA polymerase II 2 [ Homo sapiens (human) ]

Gene ID: 22936, updated on 8-Jul-2018
Official Symbol
ELL2provided by HGNC
Official Full Name
elongation factor for RNA polymerase II 2provided by HGNC
Primary source
HGNC:HGNC:17064
See related
Ensembl:ENSG00000118985 MIM:601874; Vega:OTTHUMG00000122085
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRCCAT1
Expression
Ubiquitous expression in esophagus (RPKM 18.5), salivary gland (RPKM 14.3) and 25 other tissues See more
Orthologs
See ELL2 in Genome Data Viewer
Location:
5q15
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (95885098..95962071, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (95220802..95297775, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379091 Neighboring gene long intergenic non-protein coding RNA 1554 Neighboring gene uncharacterized LOC101929710 Neighboring gene uncharacterized LOC105379096 Neighboring gene fatty acid binding protein 5 pseudogene 5 Neighboring gene MIR583 host gene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
HIV-1 replication requires ELL2, AFF4 and AFF1 for transcriptional elongation as shown through CRISPR/Cas genome editing PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat Binding of isolated AFF1(1-308) CBS to CDK9/CycT1 prevents HIV-1 Tat from activating HIV transcription and assembling complete SECs (AFF1, AFF4, ELL2, and ENL). The AFF1(1-308) M60A/L61A mutant shows no suppression of Tat transactivation PubMed
tat HIV-1 Tat increases the amount of ELL2 bound to P-TEFb without affecting the AFF4-P-TEFb binding. CDK9 is required for the Tat-induced ELL2 accumulation and Tat interaction with ELL2 PubMed
tat Brd4 inhibits HIV-1 Tat-human super elongation complex (components AFF4, ELL2, CycT1, and CDK9) by competing with HIV-1 Tat for binding to P-TEFb on HIV-1 promoter PubMed

Go to the HIV-1, Human Interaction Database

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • RNA polymerase II transcribes snRNA genes, organism-specific biosystem (from REACTOME)
    RNA polymerase II transcribes snRNA genes, organism-specific biosystemSmall nuclear RNAs (snRNAs) play key roles in splicing and some of them, specifically the U1 and U2 snRNAs, are encoded by multicopy snRNA gene clusters containing tandem arrays of genes, about 30 in...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
snRNA transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
snRNA transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
RNA polymerase II elongation factor ELL2
Names
ELL-related RNA polymerase II, elongation factor
elongation factor RNA for polymerase II 2
elongation factor, RNA polymerase II, 2
metastatic renal cell carcinoma-associated transcript 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012081.5NP_036213.2  RNA polymerase II elongation factor ELL2

    See identical proteins and their annotated locations for NP_036213.2

    Status: VALIDATED

    Source sequence(s)
    AB209343, AV652801, BC028412, BC151238, BX538289
    Consensus CDS
    CCDS4080.1
    UniProtKB/Swiss-Prot
    O00472
    UniProtKB/TrEMBL
    Q59FW6, Q7Z656
    Related
    ENSP00000237853.4, OTTHUMP00000151170, ENST00000237853.8, OTTHUMT00000242846
    Conserved Domains (3) summary
    pfam01690
    Location:384616
    PLRV_ORF5; Potato leaf roll virus readthrough protein
    pfam07303
    Location:535632
    Occludin_ELL; Occludin homology domain
    pfam10390
    Location:11289
    ELL; RNA polymerase II elongation factor ELL

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    95885098..95962071 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009240.2XP_016864729.1  RNA polymerase II elongation factor ELL2 isoform X3

    Conserved Domains (3) summary
    pfam01690
    Location:252484
    PLRV_ORF5; Potato leaf roll virus readthrough protein
    pfam07303
    Location:403500
    Occludin_ELL; Occludin homology domain
    pfam10390
    Location:1157
    ELL; RNA polymerase II elongation factor ELL
  2. XM_017009241.2XP_016864730.1  RNA polymerase II elongation factor ELL2 isoform X3

    Conserved Domains (3) summary
    pfam01690
    Location:252484
    PLRV_ORF5; Potato leaf roll virus readthrough protein
    pfam07303
    Location:403500
    Occludin_ELL; Occludin homology domain
    pfam10390
    Location:1157
    ELL; RNA polymerase II elongation factor ELL
  3. XM_017009243.2XP_016864732.1  RNA polymerase II elongation factor ELL2 isoform X4

  4. XM_017009242.1XP_016864731.1  RNA polymerase II elongation factor ELL2 isoform X3

    Conserved Domains (3) summary
    pfam01690
    Location:252484
    PLRV_ORF5; Potato leaf roll virus readthrough protein
    pfam07303
    Location:403500
    Occludin_ELL; Occludin homology domain
    pfam10390
    Location:1157
    ELL; RNA polymerase II elongation factor ELL
  5. XM_006714575.3XP_006714638.1  RNA polymerase II elongation factor ELL2 isoform X2

    Conserved Domains (3) summary
    pfam01690
    Location:329561
    PLRV_ORF5; Potato leaf roll virus readthrough protein
    pfam07303
    Location:480577
    Occludin_ELL; Occludin homology domain
    pfam10390
    Location:12234
    ELL; RNA polymerase II elongation factor ELL
  6. XM_017009239.1XP_016864728.1  RNA polymerase II elongation factor ELL2 isoform X1

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