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

Gene ID: 55840, updated on 13-Mar-2020

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
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
Expression
Broad expression in bone marrow (RPKM 6.9), lymph node (RPKM 6.3) and 18 other tissues See more
Orthologs

Genomic context

See EAF2 in Genome Data Viewer
Location:
3q13.33
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (121835180..121886526)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121554030..121605373)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene golgin B1 Neighboring gene IQ motif containing B1 Neighboring gene solute carrier family 15 member 2 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

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
ELL-EAF complex IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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_001320041.1NP_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
    Related
    ENSP00000273668.2, ENST00000273668.7
    Conserved Domains (1) summary
    pfam09816
    Location:17113
    EAF; RNA polymerase II transcription elongation factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    121835180..121886526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247618.3XP_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
  2. XM_017006863.1XP_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
  3. XM_017006861.1XP_016862350.1  ELL-associated factor 2 isoform X2

    UniProtKB/Swiss-Prot
    Q96CJ1
  4. XM_017006862.1XP_016862351.1  ELL-associated factor 2 isoform X2

    UniProtKB/Swiss-Prot
    Q96CJ1
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