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    ELF4 E74 like ETS transcription factor 4 [ Homo sapiens (human) ]

    Gene ID: 2000, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ELF4provided by HGNC
    Official Full Name
    E74 like ETS transcription factor 4provided by HGNC
    Primary source
    HGNC:HGNC:3319
    See related
    Ensembl:ENSG00000102034 MIM:300775; AllianceGenome:HGNC:3319
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MEF; ELFR; AIFBL2
    Summary
    The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]
    Expression
    Broad expression in bone marrow (RPKM 18.8), placenta (RPKM 12.9) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ELF4 in Genome Data Viewer
    Location:
    Xq26.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (130063955..130111927, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (128382755..128430731, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (129197930..129244866, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29931 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20984 Neighboring gene UTP14A small subunit processome component Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:129086824-129087554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:129093062-129093562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20985 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:129117440-129117676 Neighboring gene BCL6 corepressor like 1 Neighboring gene uncharacterized LOC124905216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:129159157-129159656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20988 Neighboring gene Sharpr-MPRA regulatory region 15346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20989 Neighboring gene Sharpr-MPRA regulatory region 9263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20995 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:129255011-129255220 Neighboring gene RAB33A, member RAS oncogene family Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:129280263-129281462 Neighboring gene apoptosis inducing factor mitochondria associated 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:129305519-129306473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29941 Neighboring gene zinc finger protein 280C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20998

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies. Sun L, et al. J Clin Immunol, 2024 May 22. PMID 38773005
    2. A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China. Sun G, et al. J Clin Immunol, 2023 Jul. PMID 36823308
    3. Functional dissection of the ETS transcription factor MEF. Suico MA, et al. Biochim Biophys Acta, 2002 Aug 19. PMID 12151102
    4. ELF4 is a critical component of a miRNA-transcription factor network and is a bridge regulator of glioblastoma receptor signaling and lipid dynamics. Kosti A, et al. Neuro Oncol, 2023 Mar 14. PMID 35862252, Free PMC Article
    5. ELF4 Is a Target of miR-124 and Promotes Neuroblastoma Proliferation and Undifferentiated State. Kosti A, et al. Mol Cancer Res, 2020 Jan. PMID 31624087, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies.
      Title: A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies.
    2. Reciprocal regulation of lncRNA MEF and c-Myc drives colorectal cancer tumorigenesis.
      Title: Reciprocal regulation of lncRNA MEF and c-Myc drives colorectal cancer tumorigenesis.
    3. ELF4 contributes to esophageal squamous cell carcinoma growth and metastasis by augmenting cancer stemness via FUT9.
      Title: ELF4 contributes to esophageal squamous cell carcinoma growth and metastasis by augmenting cancer stemness via FUT9.
    4. A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.
      Title: A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.
    5. FGF19-mediated ELF4 overexpression promotes colorectal cancer metastasis through transactivating FGFR4 and SRC.
      Title: FGF19-mediated ELF4 overexpression promotes colorectal cancer metastasis through transactivating FGFR4 and SRC.
    6. ELF4 is a critical component of a miRNA-transcription factor network and is a bridge regulator of glioblastoma receptor signaling and lipid dynamics.
      Title: ELF4 is a critical component of a miRNA-transcription factor network and is a bridge regulator of glioblastoma receptor signaling and lipid dynamics.
    7. An ELF4 hypomorphic variant results in NK cell deficiency.
      Title: An ELF4 hypomorphic variant results in NK cell deficiency.
    8. Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.
      Title: Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.
    9. [ELF4 promotes proliferation and inhibits apoptosis of human insulinoma cells by activating Akt signaling].
      Title: [ELF4 promotes proliferation and inhibits apoptosis of human insulinoma cells by activating Akt signaling].
    10. High ELF4 expression in human cancers is associated with worse disease outcomes and increased resistance to anticancer drugs.
      Title: High ELF4 expression in human cancers is associated with worse disease outcomes and increased resistance to anticancer drugs.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    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

    Associated conditions

    Description Tests
    Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
    MedGen: C5575495 OMIM: 301074 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    GWAS of dental caries patterns in the permanent dentition.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of E74-like factor 4 (ELF4) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 activator activity, RNA polymerase II-specific 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 ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 NK T cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in natural killer cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of interleukin-1 beta production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II 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
    		  
    Component Evidence Code Pubs
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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-4
    Names
    E74-like factor 4 (ets domain transcription factor)
    myeloid Elf-1-like 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.

    Genomic

    1. NG_016388.1 RefSeqGene

      Range
      5001..50794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_335

    mRNA and Protein(s)

    1. NM_001127197.2 → NP_001120669.1  ETS-related transcription factor Elf-4

      See identical proteins and their annotated locations for NP_001120669.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK314972, AL136450, BC017194, Z81363
      Consensus CDS
      CCDS14617.1
      UniProtKB/Swiss-Prot
      D3DTG1, O60435, Q99607
      Related
      ENSP00000338608.7, ENST00000335997.11
      Conserved Domains (2) summary
      smart00413
      Location:208 → 290
      ETS; erythroblast transformation specific domain
      pfam12310
      Location:2 → 104
      Elf-1_N; Transcription factor protein N terminal

    2. NM_001421.4 → NP_001412.1  ETS-related transcription factor Elf-4

      See identical proteins and their annotated locations for NP_001412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL136450, CD364651, CN314421, DN999740, U32645
      Consensus CDS
      CCDS14617.1
      UniProtKB/Swiss-Prot
      D3DTG1, O60435, Q99607
      Related
      ENSP00000311280.6, ENST00000308167.10
      Conserved Domains (2) summary
      smart00413
      Location:208 → 290
      ETS; erythroblast transformation specific domain
      pfam12310
      Location:2 → 104
      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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      130063955..130111927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441900.1 → XP_047297856.1  ETS-related transcription factor Elf-4 isoform X1

      UniProtKB/Swiss-Prot
      D3DTG1, O60435, Q99607

    2. XM_005262389.4 → XP_005262446.1  ETS-related transcription factor Elf-4 isoform X1

      See identical proteins and their annotated locations for XP_005262446.1

      UniProtKB/Swiss-Prot
      D3DTG1, O60435, Q99607
      Conserved Domains (2) summary
      smart00413
      Location:208 → 290
      ETS; erythroblast transformation specific domain
      pfam12310
      Location:2 → 104
      Elf-1_N; Transcription factor protein N terminal

    3. XM_011531308.4 → XP_011529610.1  ETS-related transcription factor Elf-4 isoform X2

      Conserved Domains (2) summary
      pfam00178
      Location:134 → 213
      Ets; Ets-domain
      pfam12310
      Location:6 → 27
      Elf-1_N; Transcription factor protein N terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      128382755..128430731 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326648.1 → XP_054182623.1  ETS-related transcription factor Elf-4 isoform X1

      UniProtKB/Swiss-Prot
      D3DTG1, O60435, Q99607

    2. XM_054326647.1 → XP_054182622.1  ETS-related transcription factor Elf-4 isoform X1

      UniProtKB/Swiss-Prot
      D3DTG1, O60435, Q99607

    3. XM_054326649.1 → XP_054182624.1  ETS-related transcription factor Elf-4 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99607.1 GenPept UniProtKB/Swiss-Prot:Q99607

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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