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

    Gene ID: 1998, updated on 27-Nov-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 DNA-templated transcription; positive regulation of DNA-templated transcription; and regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 17.8), bone marrow (RPKM 13.2) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (139057220..139177915, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (142376821..142498515, complement)
    RS_2024_09 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. E74-like factor 2 regulates valosin-containing protein expression. Zhang B, et al. Biochem Biophys Res Commun, 2007 May 11. PMID 17368566
    3. 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
    4. 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
    5. 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

    See all (55) 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)

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 DNA binding IDA
    Inferred from Direct Assay
    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 negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    located_in 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
    		  
    located_in nucleus IC
    Inferred by Curator
    more info
    		 PubMed 

    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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    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_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_2024_08

    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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