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ELF2 E74 like ETS transcription factor 2 [ Homo sapiens (human) ]

Gene ID: 1998, updated on 3-Apr-2024

Summary

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Official Symbol
ELF2provided by HGNC
Official Full Name
E74 like ETS transcription factor 2provided by HGNC
Primary source
HGNC:HGNC:3317
See related
Ensembl:ENSG00000109381 MIM:619798; AllianceGenome:HGNC:3317
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
EU32; NERF; NERF-2; NERF-1A; NERF-1B; NERF-1a,b
Summary
Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription, DNA-templated; positive regulation of transcription, DNA-templated; and regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 17.8), bone marrow (RPKM 13.2) and 25 other tissues See more
Orthologs
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Genomic context

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See ELF2 in Genome Data Viewer
Location:
4q31.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (139057220..139177915, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (142376821..142498515, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (139978374..140098372, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:139949204-139949704 Neighboring gene uncharacterized LOC124900780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:139951907-139952731 Neighboring gene nocturnin Neighboring gene RNA, U6 small nuclear 531, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15694 Neighboring gene Sharpr-MPRA regulatory region 15356 Neighboring gene RNA, 7SL, cytoplasmic 382, pseudogene Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14B pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:140073148-140073731 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:140076063-140076645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:140076646-140077228 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:140080143-140080726 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:140080727-140081308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:140083181-140083798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:140084443-140085075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:140085076-140085707 Neighboring gene uncharacterized LOC105379412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15697 Neighboring gene CRISPRi-validated cis-regulatory element chr4.2840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15698 Neighboring gene RNA, 7SL, cytoplasmic 311, pseudogene Neighboring gene RNA, U6 small nuclear 506, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. ChIP-on-chip analysis of thyroid hormone-regulated genes and their physiological significance. Chung IH, et al. Oncotarget, 2016 Apr 19. PMID 26968954, Free PMC Article
  2. Circ_0028007 Aggravates the Malignancy of Nasopharyngeal Carcinoma by Regulating miR-656-3p/ELF2 Axis. Ma X, et al. Biochem Genet, 2022 Dec. PMID 35239093
  3. EIF2B2 mutations in vanishing white matter disease hypersuppress translation and delay recovery during the integrated stress response. Moon SL, et al. RNA, 2018 Jun. PMID 29632131, Free PMC Article
  4. E74-like factor 2 transactivates valosin-containing protein gene, a gene involved in cancer growth. Qiu Y, et al. Exp Mol Pathol, 2008 Jun. PMID 18544453
  5. E74-like factor 2 regulates valosin-containing protein expression. Zhang B, et al. Biochem Biophys Res Commun, 2007 May 11. PMID 17368566

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. c-Myc-induced long noncoding RNA MIRE cooperates with hnRNPK to stabilize ELF2 mRNA and promotes clear cell renal cell carcinogenesis.
    Title: c-Myc-induced long noncoding RNA MIRE cooperates with hnRNPK to stabilize ELF2 mRNA and promotes clear cell renal cell carcinogenesis.
  2. Circ_0028007 Aggravates the Malignancy of Nasopharyngeal Carcinoma by Regulating miR-656-3p/ELF2 Axis.
    Title: Circ_0028007 Aggravates the Malignancy of Nasopharyngeal Carcinoma by Regulating miR-656-3p/ELF2 Axis.
  3. Mutations in eIF2B genes cause vanishing white matter disease due to translation defects.
    Title: EIF2B2 mutations in vanishing white matter disease hypersuppress translation and delay recovery during the integrated stress response.
  4. Our findings collectively support a potential role of triiodothyronine and its receptor in tumor growth inhibition through regulation of ELF2
    Title: ChIP-on-chip analysis of thyroid hormone-regulated genes and their physiological significance.
  5. PCAT7 contributed to the progression of nasopharyngeal carcinoma through regulating miR-134-5p/ELF2 signaling pathway.
    Title: Long non-coding RNA PCAT7 regulates ELF2 signaling through inhibition of miR-134-5p in nasopharyngeal carcinoma.
  6. Affinity of the CAL PDZ domain for the cystic fibrosis transmembrane conductance regulator (CFTR) C-terminus is much weaker than that of the NHERF1/NHERF2 domains, enabling wild-type CFTR to avoid premature entrapment in the lysosomal pathway.
    Title: The relative binding affinities of PDZ partners for CFTR: a biochemical basis for efficient endocytic recycling.
  7. ELF2 transactivates VCP promoter through binding to two motifs, with a predominant contribution of the upstream one.
    Title: E74-like factor 2 transactivates valosin-containing protein gene, a gene involved in cancer growth.
  8. Observational study of gene-environment interaction. (HuGE Navigator)
    Title: Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.
  9. angiopoietin-1 regulates expression of NERF2 and its own receptor in hypoxic cells.
    Title: NERF2, a member of the Ets family of transcription factors, is increased in response to hypoxia and angiopoietin-1: a potential mechanism for Tie2 regulation during hypoxia.
  10. NERF/ELF-2 physically interacts with AML1 and mediates opposing effects on AML1-mediated transcription of the B cell-specific blk gene
    Title: Isoforms of the Ets transcription factor NERF/ELF-2 physically interact with AML1 and mediate opposing effects on AML1-mediated transcription of the B cell-specific blk gene.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ETS-related transcription factor Elf-2
Names
E74-like factor 2 (ets domain transcription factor)
ets family transcription factor ELF2C
new Ets-related factor

NCBI Reference Sequences (RefSeq)

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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_001276457.2 → NP_001263386.1  ETS-related transcription factor Elf-2 isoform 3

    See identical proteins and their annotated locations for NP_001263386.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate exon in place of the first three exons, uses an alternate in-frame splice junction at the 5' end of an internal exon, and lacks an alternate in-frame exon compared to variant 1. Translation starts in the alternate exon, so the resulting isoform (3) has a shorter and distinct N-terminus, contains an alternate internal segment, and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AC093602, AF256222, BC065025, U43188
    Consensus CDS
    CCDS64063.1
    UniProtKB/Swiss-Prot
    Q15723
    Related
    ENSP00000368867.2, ENST00000379549.7
    Conserved Domains (2) summary
    smart00413
    Location:118 → 200
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:20 → 48
    Elf-1_N; Transcription factor protein N terminal

  2. NM_001276458.3 → NP_001263387.1  ETS-related transcription factor Elf-2 isoform 4

    See identical proteins and their annotated locations for NP_001263387.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate exon in place of the first three exons and compared to variant 1. Translation starts in the alternate exon, so the resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC093602, AF256222, AK316455, U43188
    Consensus CDS
    CCDS64062.1
    UniProtKB/TrEMBL
    B7Z720
    Related
    ENSP00000426997.1, ENST00000510408.5
    Conserved Domains (2) summary
    smart00413
    Location:135 → 217
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:20 → 48
    Elf-1_N; Transcription factor protein N terminal

  3. NM_001276459.3 → NP_001263388.1  ETS-related transcription factor Elf-2 isoform 5

    See identical proteins and their annotated locations for NP_001263388.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has an alternate exon in place of the first three exons and lacks an alternate in-frame exon compared to variant 1. Translation starts in the alternate exon, so the resulting isoform (5) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AC093602, AF256222, BC034951, BI770157, U43188
    UniProtKB/Swiss-Prot
    Q15723
    Conserved Domains (2) summary
    pfam00178
    Location:109 → 188
    Ets; Ets-domain
    pfam12310
    Location:20 → 48
    Elf-1_N; Transcription factor protein N terminal

  4. NM_001331036.3 → NP_001317965.1  ETS-related transcription factor Elf-2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AF256222, BC065025, BU621268, DA221737, U43188
    Consensus CDS
    CCDS82954.1
    UniProtKB/Swiss-Prot
    E9PCX3, Q15723, Q15724, Q15725, Q6P1K5
    Related
    ENSP00000510098.1, ENST00000686138.1
    Conserved Domains (2) summary
    smart00413
    Location:207 → 289
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:3 → 108
    Elf-1_N; Transcription factor protein N terminal

  5. NM_001371324.1 → NP_001358253.1  ETS-related transcription factor Elf-2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC024032, AC093602
    Consensus CDS
    CCDS3744.1
    Conserved Domains (2) summary
    pfam00178
    Location:198 → 277
    Ets; Ets-domain
    pfam12310
    Location:3 → 108
    Elf-1_N; Transcription factor protein N terminal

  6. NM_001371336.1 → NP_001358265.1  ETS-related transcription factor Elf-2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC024032, AC093602
    Conserved Domains (2) summary
    pfam00178
    Location:181 → 260
    Ets; Ets-domain
    pfam12310
    Location:3 → 108
    Elf-1_N; Transcription factor protein N terminal

  7. NM_001371337.1 → NP_001358266.1  ETS-related transcription factor Elf-2 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC024032, AC093602
    UniProtKB/TrEMBL
    B7Z8R4
    Conserved Domains (1) summary
    pfam00178
    Location:94 → 173
    Ets; Ets-domain

  8. NM_001371338.1 → NP_001358267.1  ETS-related transcription factor Elf-2 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC024032, AC093602
    UniProtKB/TrEMBL
    B7Z8R4
    Conserved Domains (1) summary
    pfam00178
    Location:77 → 156
    Ets; Ets-domain

  9. NM_001371339.1 → NP_001358268.1  ETS-related transcription factor Elf-2 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC024032, AC093602
    UniProtKB/TrEMBL
    B7Z8R4
    Conserved Domains (1) summary
    pfam00178
    Location:65 → 144
    Ets; Ets-domain

  10. NM_006874.5 → NP_006865.1  ETS-related transcription factor Elf-2 isoform 2

    See identical proteins and their annotated locations for NP_006865.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate exon in place of the first three exons and uses an alternate in-frame splice junction at the 5' end of an internal exon compared to variant 1. Translation starts in the alternate exon, so the resulting isoform (2) has a shorter and distinct N-terminus and contains an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AC093602, BC034951, U43188
    Consensus CDS
    CCDS3745.1
    UniProtKB/Swiss-Prot
    Q15723
    Related
    ENSP00000351458.2, ENST00000358635.7
    Conserved Domains (2) summary
    smart00413
    Location:147 → 229
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:20 → 48
    Elf-1_N; Transcription factor protein N terminal

  11. NM_201999.3 → NP_973728.1  ETS-related transcription factor Elf-2 isoform 1

    See identical proteins and their annotated locations for NP_973728.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC024032, AC093602
    Consensus CDS
    CCDS3744.1
    UniProtKB/Swiss-Prot
    Q15723
    Related
    ENSP00000377782.1, ENST00000394235.6
    Conserved Domains (2) summary
    pfam00178
    Location:198 → 277
    Ets; Ets-domain
    pfam12310
    Location:3 → 108
    Elf-1_N; Transcription factor protein N terminal

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    139057220..139177915 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449740.1 → XP_047305696.1  ETS-related transcription factor Elf-2 isoform X2

  2. XM_047449741.1 → XP_047305697.1  ETS-related transcription factor Elf-2 isoform X3

  3. XM_047449737.1 → XP_047305693.1  ETS-related transcription factor Elf-2 isoform X1

    UniProtKB/Swiss-Prot
    E9PCX3, Q15723, Q15724, Q15725, Q6P1K5

  4. XM_005262805.3 → XP_005262862.1  ETS-related transcription factor Elf-2 isoform X4

    Conserved Domains (2) summary
    pfam00178
    Location:169 → 248
    Ets; Ets-domain
    pfam12310
    Location:3 → 108
    Elf-1_N; Transcription factor protein N terminal

  5. XM_047449733.1 → XP_047305689.1  ETS-related transcription factor Elf-2 isoform X1

    UniProtKB/Swiss-Prot
    E9PCX3, Q15723, Q15724, Q15725, Q6P1K5

  6. XM_047449736.1 → XP_047305692.1  ETS-related transcription factor Elf-2 isoform X1

    UniProtKB/Swiss-Prot
    E9PCX3, Q15723, Q15724, Q15725, Q6P1K5
    Related
    ENSP00000368868.1, ENST00000379550.5

  7. XM_047449738.1 → XP_047305694.1  ETS-related transcription factor Elf-2 isoform X2

  8. XM_047449734.1 → XP_047305690.1  ETS-related transcription factor Elf-2 isoform X1

    UniProtKB/Swiss-Prot
    E9PCX3, Q15723, Q15724, Q15725, Q6P1K5

  9. XM_047449739.1 → XP_047305695.1  ETS-related transcription factor Elf-2 isoform X2

  10. XM_047449732.1 → XP_047305688.1  ETS-related transcription factor Elf-2 isoform X1

    UniProtKB/Swiss-Prot
    E9PCX3, Q15723, Q15724, Q15725, Q6P1K5

  11. XM_011531711.3 → XP_011530013.1  ETS-related transcription factor Elf-2 isoform X5

    See identical proteins and their annotated locations for XP_011530013.1

    Conserved Domains (1) summary
    smart00413
    Location:103 → 185
    ETS; erythroblast transformation specific domain

  12. XM_047449742.1 → XP_047305698.1  ETS-related transcription factor Elf-2 isoform X5

  13. XM_011531714.3 → XP_011530016.1  ETS-related transcription factor Elf-2 isoform X6

    UniProtKB/TrEMBL
    B7Z8R4
    Conserved Domains (1) summary
    pfam00178
    Location:1 → 31
    Ets; Ets-domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    142376821..142498515 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349156.1 → XP_054205131.1  ETS-related transcription factor Elf-2 isoform X2

  2. XM_054349157.1 → XP_054205132.1  ETS-related transcription factor Elf-2 isoform X3

  3. XM_054349158.1 → XP_054205133.1  ETS-related transcription factor Elf-2 isoform X4

  4. XM_054349151.1 → XP_054205126.1  ETS-related transcription factor Elf-2 isoform X1

    UniProtKB/Swiss-Prot
    E9PCX3, Q15723, Q15724, Q15725, Q6P1K5

  5. XM_054349153.1 → XP_054205128.1  ETS-related transcription factor Elf-2 isoform X1

    UniProtKB/Swiss-Prot
    E9PCX3, Q15723, Q15724, Q15725, Q6P1K5

  6. XM_054349154.1 → XP_054205129.1  ETS-related transcription factor Elf-2 isoform X2

  7. XM_054349152.1 → XP_054205127.1  ETS-related transcription factor Elf-2 isoform X1

    UniProtKB/Swiss-Prot
    E9PCX3, Q15723, Q15724, Q15725, Q6P1K5

  8. XM_054349155.1 → XP_054205130.1  ETS-related transcription factor Elf-2 isoform X2

  9. XM_054349150.1 → XP_054205125.1  ETS-related transcription factor Elf-2 isoform X1

    UniProtKB/Swiss-Prot
    E9PCX3, Q15723, Q15724, Q15725, Q6P1K5

  10. XM_054349159.1 → XP_054205134.1  ETS-related transcription factor Elf-2 isoform X5

  11. XM_054349160.1 → XP_054205135.1  ETS-related transcription factor Elf-2 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15723.2 GenPept UniProtKB/Swiss-Prot:Q15723

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