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

    Gene ID: 22936, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:17064
    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
    Summary
    Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in snRNA transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 18.5), salivary gland (RPKM 14.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ELL2 in Genome Data Viewer
    Location:
    5q15
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (95885098..95961851, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (96386338..96463172, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (95220802..95297555, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901029 Neighboring gene uncharacterized LOC105379091 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:95197672-95198871 Neighboring gene NANOG hESC enhancer GRCh37_chr5:95199127-95199628 Neighboring gene long intergenic non-protein coding RNA 1554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22813 Neighboring gene Sharpr-MPRA regulatory region 10583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16189 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:95297407-95298164 Neighboring gene uncharacterized LOC101929710 Neighboring gene uncharacterized LOC105379096 Neighboring gene Sharpr-MPRA regulatory region 2569 Neighboring gene fatty acid binding protein 5 pseudogene 5 Neighboring gene calpastatin Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:95401160-95402062

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of transcription elongation factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transcription elongation factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012081.6NP_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
      B4DNK7, O00472
      UniProtKB/TrEMBL
      Q59FW6
      Related
      ENSP00000237853.4, ENST00000237853.9
      Conserved Domains (2) summary
      pfam07303
      Location:532633
      Occludin_ELL; Occludin homology domain
      pfam10390
      Location:11291
      ELL; RNA polymerase II elongation factor ELL

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      95885098..95961851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009240.3XP_016864729.1  RNA polymerase II elongation factor ELL2 isoform X3

      UniProtKB/TrEMBL
      Q59FW6
      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_047416959.1XP_047272915.1  RNA polymerase II elongation factor ELL2 isoform X2

      UniProtKB/TrEMBL
      Q59FW6
    3. XM_047416960.1XP_047272916.1  RNA polymerase II elongation factor ELL2 isoform X3

      UniProtKB/TrEMBL
      Q59FW6
    4. XM_017009239.2XP_016864728.1  RNA polymerase II elongation factor ELL2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      96386338..96463172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352099.1XP_054208074.1  RNA polymerase II elongation factor ELL2 isoform X3

      UniProtKB/TrEMBL
      Q59FW6
    2. XM_054352098.1XP_054208073.1  RNA polymerase II elongation factor ELL2 isoform X2

      UniProtKB/TrEMBL
      Q59FW6
    3. XM_054352100.1XP_054208075.1  RNA polymerase II elongation factor ELL2 isoform X3

      UniProtKB/TrEMBL
      Q59FW6
    4. XM_054352097.1XP_054208072.1  RNA polymerase II elongation factor ELL2 isoform X1