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ELF4 Gene(Protein Coding)

E74 Like ETS Transcription Factor 4

GCID:
GC0XM130064
GIFtS:
48
Genes Participants
UDN Logo

Aliases for ELF4 Gene

Aliases for ELF4 Gene

  • E74 Like ETS Transcription Factor 4 2 3 5
  • E74-Like Factor 4 (Ets Domain Transcription Factor) 2 3
  • Myeloid Elf-1-Like Factor 3 4
  • ELFR 3 4
  • MEF 3 4
  • ETS-Related Transcription Factor Elf-4 3
  • E74-Like Factor 4 4

External Ids for ELF4 Gene

Previous GeneCards Identifiers for ELF4 Gene

  • GC0XM123844
  • GC0XM126044
  • GC0XM127143
  • GC0XM127904
  • GC0XM127885
  • GC0XM128924
  • GC0XM129026
  • GC0XM129198
  • GC0XM118596

Summaries for ELF4 Gene

Entrez Gene Summary for ELF4 Gene

  • 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]

GeneCards Summary for ELF4 Gene

ELF4 (E74 Like ETS Transcription Factor 4) is a Protein Coding gene. Diseases associated with ELF4 include Isolated Growth Hormone Deficiency, Type Iii. Among its related pathways are AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ELF1.

UniProtKB/Swiss-Prot for ELF4 Gene

  • Transcriptional activator that binds to DNA sequences containing the consensus 5-WGGA-3. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Also transactivates the PRF1 promoter in natural killer (NK) cells. Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By similarity). Controls cell senescence in a p53-dependent manner. Can also promote cellular transformation through inhibition of the p16 pathway.

Gene Wiki entry for ELF4 Gene

Additional gene information for ELF4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELF4 Gene

Genomics for ELF4 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ELF4 Gene

Promoters and enhancers for ELF4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XI130108 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 558.2 +0.3 318 4.3 HDGF ATF1 ARNT SIN3A GLIS2 FOS ATF7 RUNX3 ZNF202 ZNF592 ELF4 ZNF280C BCORL1 RBMX2 AIFM1 GC0XP130039
GH0XI130090 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 554.7 +19.0 18950 4.7 HDAC1 PKNOX1 ZBTB40 RAD21 ZNF121 EGR1 ETV6 BCLAF1 IKZF2 RUNX3 ELF4 GC0XP130039
GH0XI129770 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.3 +331.0 330958 17.9 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 IRF4 YY1 TCF12 ZNF766 GATA2 SASH3 ZNF280C BCORL1 XPNPEP2 UTP14A SLC25A14 OCRL ELF4 ENSG00000240143 ZDHHC9
GH0XI130080 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.5 +26.3 26284 7.9 HDGF PKNOX1 ATF1 IRF4 ZNF766 GLIS2 ZNF143 ATF7 RUNX3 NCOA1 ELF4 BCORL1 SASH3 GC0XP130039
GH0XI130164 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.8 -55.1 -55075 3.2 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A ZNF2 YY1 AIFM1 BCORL1 UTP14A SMARCA1 OCRL RBMX2 ELF4 ZNF280C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ELF4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ELF4 gene promoter:

Genomic Locations for ELF4 Gene

Genomic Locations for ELF4 Gene
chrX:130,064,874-130,110,716
(GRCh38/hg38)
Size:
45,843 bases
Orientation:
Minus strand
chrX:129,198,849-129,244,691
(GRCh37/hg19)

Genomic View for ELF4 Gene

Genes around ELF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELF4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ELF4 Gene

Proteins for ELF4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ELF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99607-ELF4_HUMAN
    Recommended name:
    ETS-related transcription factor Elf-4
    Protein Accession:
    Q99607
    Secondary Accessions:
    • D3DTG1
    • O60435

    Protein attributes for ELF4 Gene

    Size:
    663 amino acids
    Molecular mass:
    70730 Da
    Quaternary structure:
    • Interacts with RUNX1 (via the Runt domain); the interaction transactivates the IL3 promoter. Interacts (via its C-terminus) with PML; the interaction translocates ELF4 to PML nuclear bodies and enhances transactivation of LYZ.
    SequenceCaution:
    • Sequence=AAC17452.1; Type=Frameshift; Positions=334, 412; Evidence={ECO:0000305};

neXtProt entry for ELF4 Gene

Protein Expression for ELF4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ELF4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELF4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ELF4 Gene

Domains & Families for ELF4 Gene

Gene Families for ELF4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ELF4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ELF4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99607

UniProtKB/Swiss-Prot:

ELF4_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ELF4: view

Function for ELF4 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ELF4 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator that binds to DNA sequences containing the consensus 5-WGGA-3. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Also transactivates the PRF1 promoter in natural killer (NK) cells. Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By similarity). Controls cell senescence in a p53-dependent manner. Can also promote cellular transformation through inhibition of the p16 pathway.
UniProtKB/Swiss-Prot Induction:
By ponisterone A in erythroleukemia cells.

Phenotypes From GWAS Catalog for ELF4 Gene

Gene Ontology (GO) - Molecular Function for ELF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 14625302
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 14625302
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with ELF4: view
genes like me logo Genes that share phenotypes with ELF4: view

Animal Models for ELF4 Gene

MGI Knock Outs for ELF4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELF4 Gene

Localization for ELF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELF4 Gene

Nucleus, PML body. Note=Accumulation into PML nuclear bodies is mediated by PML.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELF4 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0016604 nuclear body IDA --
GO:0016605 PML body IDA,IEA 14970218
genes like me logo Genes that share ontologies with ELF4: view

Pathways & Interactions for ELF4 Gene

genes like me logo Genes that share pathways with ELF4: view

Pathways by source for ELF4 Gene

1 Sino Biological pathway for ELF4 Gene

SIGNOR curated interactions for ELF4 Gene

Activates:

Gene Ontology (GO) - Biological Process for ELF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001787 natural killer cell proliferation IEA,ISS --
GO:0001866 NK T cell proliferation ISS,IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with ELF4: view

Drugs & Compounds for ELF4 Gene

Products:

  1. Drug

(1) Drugs for ELF4 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ISIS 183750 Pharma inhibitor 0

(1) Additional Compounds for ELF4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ELF4: view

Transcripts for ELF4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ELF4 Gene

(5) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(146) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ELF4 Gene

E74-like factor 4 (ets domain transcription factor):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELF4 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - -
SP2:
SP3: - - -
SP4:

Relevant External Links for ELF4 Gene

GeneLoc Exon Structure for
ELF4
ECgene alternative splicing isoforms for
ELF4

Expression for ELF4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELF4 Gene

mRNA expression in normal human tissues for ELF4 Gene
mRNA expression by GTEx for ELF4 GenemRNA expression by BioGPS for ELF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELF4 Gene

This gene is overexpressed in Whole Blood (x9.4).

Protein differential expression in normal tissues from HIPED for ELF4 Gene

This gene is overexpressed in Saliva (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ELF4 Gene



Protein tissue co-expression partners for ELF4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ELF4 Gene:

ELF4

SOURCE GeneReport for Unigene cluster for ELF4 Gene:

Hs.271940

mRNA Expression by UniProt/SwissProt for ELF4 Gene:

Q99607-ELF4_HUMAN
Tissue specificity: Abundantly expressed in the placenta and in a variety of myeloid leukemia cell lines. Moderate levels of expression in heart, lung, spleen, thymus, peripheral blood lymphocytes, ovary and colon. Lower levels of expression in Jurkat T-cells and other T-cell lines and no expression in brain.

Evidence on tissue expression from TISSUES for ELF4 Gene

  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ELF4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • pituitary gland
  • sinus
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
Pelvis:
  • pelvis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ELF4: view

Orthologs for ELF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELF4 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
 Mammalia ELF4 33 34
  • 89.46 (n)
cow
(Bos Taurus)
 Mammalia ELF4 33 34
  • 88.27 (n)
rat
(Rattus norvegicus)
 Mammalia Elf4 33
  • 83.84 (n)
mouse
(Mus musculus)
 Mammalia Elf4 33 16 34
  • 83.21 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ELF4 34
  • 69 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 50 (a)
 OneToMany
-- 34
  • 42 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii ef1 34
  • 41 (a)
 OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
 Insecta Eip74EF 35
  • 75 (a)
worm
(Caenorhabditis elegans)
 Secernentea C24A1.2 35
  • 72 (a)
ets-8 34
  • 34 (a)
 ManyToMany
elf-1 34
  • 26 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 27 (a)
 OneToMany
Species where no ortholog for ELF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ELF4 Gene

ENSEMBL:
Gene Tree for ELF4 (if available)
TreeFam:
Gene Tree for ELF4 (if available)

Paralogs for ELF4 Gene

Paralogs for ELF4 Gene

(3) SIMAP similar genes for ELF4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ELF4: view

Variants for ELF4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ELF4 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs2181440 benign, not specified 130,067,204(-) C/T coding_sequence_variant, synonymous_variant
rs1000056195 -- 130,095,648(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000218467 -- 130,103,556(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000379599 -- 130,065,356(-) GGAAGG/GGAAGGAAGG 3_prime_UTR_variant
rs1000433516 -- 130,065,623(-) G/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for ELF4 Gene

Variant ID Type Subtype PubMed ID
esv1493190 CNV deletion 17803354
esv25673 CNV loss 19812545
nsv1076274 CNV deletion 25765185
nsv1110098 CNV deletion 24896259
nsv1144322 CNV deletion 24896259
nsv528290 CNV gain 19592680
nsv7090 CNV deletion 18451855

Variation tolerance for ELF4 Gene

Residual Variation Intolerance Score: 16.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELF4 Gene

Human Gene Mutation Database (HGMD)
ELF4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELF4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELF4 Gene

Disorders for ELF4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ELF4 Gene - From: Orphanet

Disorder Aliases PubMed IDs
isolated growth hormone deficiency, type iii
  • ighd3
- elite association - COSMIC cancer census association via MalaCards
Search ELF4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ELF4_HUMAN
  • Note=A chromosomal aberration involving ELF4 has been found in a case of acute myeloid leukemia (AML). Translocation t(X;21)(q25-26;q22) with ERG. {ECO:0000269 PubMed:16303180}.

Additional Disease Information for ELF4

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ELF4: view

No data available for Genatlas for ELF4 Gene

Publications for ELF4 Gene

  1. MEF, a novel transcription factor with an Elf-1 like DNA binding domain but distinct transcriptional activating properties. (PMID: 8895518) Miyazaki Y … Nimer S (Oncogene 1996) 2 3 4 22 58
  2. Myeloid Elf-1-like factor, an ETS transcription factor, up-regulates lysozyme transcription in epithelial cells through interaction with promyelocytic leukemia protein. (PMID: 14976184) Suico MA … Kai H (The Journal of biological chemistry 2004) 3 4 22 58
  3. ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22). (PMID: 16303180) Moore SD … Dal Cin P (Leukemia research 2006) 3 4 58
  4. The ETS protein MEF is regulated by phosphorylation-dependent proteolysis via the protein-ubiquitin ligase SCFSkp2. (PMID: 16581786) Liu Y … Nimer SD (Molecular and cellular biology 2006) 3 22 58
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58

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