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    EAF2 ELL associated factor 2 [ Homo sapiens (human) ]

    Gene ID: 55840, updated on 17-Jun-2024

    Summary

    Official Symbol
    EAF2provided by HGNC
    Official Full Name
    ELL associated factor 2provided by HGNC
    Primary source
    HGNC:HGNC:23115
    See related
    Ensembl:ENSG00000145088 MIM:607659; AllianceGenome:HGNC:23115
    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
    U19; BM040; TRAITS
    Summary
    Enables transcription elongation regulator activity. Involved in positive regulation of transcription by RNA polymerase II and regulation of transcription elongation from RNA polymerase II promoter. Part of transcription elongation factor complex. Biomarker of prostate cancer. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in bone marrow (RPKM 6.9), lymph node (RPKM 6.3) and 18 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See EAF2 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (121835209..121886526)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (124555203..124606495)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121554056..121605373)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene golgin B1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:121449808-121451007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20349 Neighboring gene IQ motif containing B1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:121611674-121612207 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:121612208-121612740 Neighboring gene solute carrier family 15 member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:121657363-121657943 Neighboring gene uncharacterized LOC101927010 Neighboring gene immunoglobulin like domain containing receptor 1

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription elongation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transcription elongation factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of super elongation complex IEA
    Inferred from Electronic Annotation
    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
    ELL-associated factor 2
    Names
    testosterone-regulated apoptosis inducer and tumor suppressor protein

    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_001320041.2NP_001306970.1  ELL-associated factor 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' region, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC119736, AF217516, AY049020, HY005912
      UniProtKB/Swiss-Prot
      Q96CJ1
    2. NM_018456.6NP_060926.2  ELL-associated factor 2 isoform 1

      See identical proteins and their annotated locations for NP_060926.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AY049020, HY005912
      Consensus CDS
      CCDS3006.1
      UniProtKB/Swiss-Prot
      Q96CJ1, Q9NZ82
      Related
      ENSP00000273668.2, ENST00000273668.7
      Conserved Domains (1) summary
      pfam09816
      Location:17115
      EAF; RNA polymerase II transcription elongation factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      121835209..121886526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448576.1XP_047304532.1  ELL-associated factor 2 isoform X1

    2. XM_017006861.2XP_016862350.1  ELL-associated factor 2 isoform X2

      UniProtKB/Swiss-Prot
      Q96CJ1
    3. XM_047448577.1XP_047304533.1  ELL-associated factor 2 isoform X2

    4. XM_005247618.4XP_005247675.1  ELL-associated factor 2 isoform X1

      See identical proteins and their annotated locations for XP_005247675.1

      Conserved Domains (1) summary
      pfam09816
      Location:48124
      EAF; RNA polymerase II transcription elongation factor
    5. XM_017006863.2XP_016862352.1  ELL-associated factor 2 isoform X3

      UniProtKB/TrEMBL
      B4DWJ3
      Related
      ENSP00000410708.2, ENST00000451944.2
      Conserved Domains (1) summary
      pfam09816
      Location:17113
      EAF; RNA polymerase II transcription elongation factor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      124555203..124606495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347255.1XP_054203230.1  ELL-associated factor 2 isoform X1

    2. XM_054347257.1XP_054203232.1  ELL-associated factor 2 isoform X2

    3. XM_054347258.1XP_054203233.1  ELL-associated factor 2 isoform X2

    4. XM_054347256.1XP_054203231.1  ELL-associated factor 2 isoform X1

    5. XM_054347259.1XP_054203234.1  ELL-associated factor 2 isoform X3

      UniProtKB/TrEMBL
      B4DWJ3