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

Gene ID: 2000, updated on 27-Nov-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
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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

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. 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

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