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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.[pro... See more...
Aliases for ELF4 Gene
Aliases for ELF4 Gene
External Ids for ELF4 Gene
- HGNC: 3319
- Entrez Gene: 2000
- Ensembl: ENSG00000102034
- OMIM: 300775
- UniProtKB: Q99607
Previous GeneCards Identifiers for ELF4 Gene
- GC0XM123844
- GC0XM126044
- GC0XM127143
- GC0XM127904
- GC0XM127885
- GC0XM128924
- GC0XM129026
- GC0XM129198
- GC0XM118596
Summaries 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, With Agammaglobulinemia and Myeloid Leukemia. 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 Summary 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.
Additional gene information for ELF4 Gene
- HGNC(3319)
- Entrez Gene(2000)
- Ensembl(ENSG00000102034)
- OMIM(300775)
- UniProtKB(Q99607)
- Open Targets Platform(ENSG00000102034)
- Monarch Initiative
- Search for ELF4 at DataMed
- Search for ELF4 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELF4 Gene
Genomics for ELF4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ELF4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ELF4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELF4
- Top Transcription factor binding sites by QIAGEN in the ELF4 gene promoter:
-
- c-Myc
- Max
- POU6F1 (c2)
- RORalpha1
- USF-1
- USF1
Genomic Locations for ELF4 Gene
Genomic Locations for ELF4 Gene
- chrX:130,063,955-130,110,891
- (GRCh38/hg38)
- Size:
- 46,937 bases
- Orientation:
- Minus strand
- chrX:129,198,849-129,244,691
- (GRCh37/hg19)
- Size:
- 45,843 bases
- Orientation:
- Minus strand
Genomic View for ELF4 Gene
Genes around ELF4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq26.1 by HGNC
- Xq26.1 by Entrez Gene
- Xq26.1 by Ensembl
ELF4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ELF4 Gene
Proteins for ELF4 Gene
-
Protein details for ELF4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99607-ELF4_HUMAN
- Recommended name:
- ETS-related transcription factor Elf-4
- Protein Accession:
- Q99607
- 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; Evidence={ECO:0000305};
Protein Expression for ELF4 Gene
Post-translational modifications for ELF4 Gene
Other Protein References for ELF4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences ELF4 / MEF Antibody
- G Biosciences Immunotag™ ELF4 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ELF4
- AP22807PU-N
- AP51410PU-N
- CF810090
- CF810091
- CF810092
- CF810093
- CF810094
- CF810095
- CF810096
- CF810142
- CF810143
- TA313808
- TA324904
- TA329366
- TA330213
- TA335189
- TA342333
- TA810090
- TA810090S
- TA810091
- TA810091S
- TA810092
- TA810092S
- TA810093
- TA810093S
- TA810094
- TA810094S
- TA810095
- TA810095S
- TA810096
- TA810096S
- TA810142
- TA810142S
- TA810143
- TA810143S
- Novus Biologicals Antibodies for ELF4
-
Abcam antibodies for ELF4
- Invitrogen Antibodies for ELF4 (AFLGC-Elf4)
- antibodies-online: Show 32 available Elf4 Antibodies ranked by validation data
-
Biorbyt antibodies for ELF4
-
Santa Cruz Biotechnology (SCBT) Antibodies for ELF4
Protein Products
-
OriGene Purified Proteins for ELF4
- Search Origene for MassSpec and Protein Over-expression Lysates for ELF4
- Origene Custom Protein Services for ELF4
- antibodies-online: Search results for available Elf4 related products ranked by validation data
-
Abcam proteins for ELF4
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:
-
- Myeloid Elf-1-like factor (ELF4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q99607- Family:
-
- Belongs to the ETS family.
Function for ELF4 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 14625302 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISM | 19274049 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 14625302 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
Phenotypes for ELF4 Gene
- MGI mutant phenotypes for ELF4:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ELF4:
Animal Models for ELF4 Gene
- MGI Knock Outs for ELF4:
-
- Elf4 Elf4<tm1Nim>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ELF4 - Select products 50% OFF >
- * ELF4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ELF4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ELF4
-
Santa Cruz Biotechnology (SCBT) CRISPR for ELF4
miRNA for ELF4 Gene
- miRTarBase miRNAs that target ELF4
-
- hsa-miR-124-3p (MIRT002580)
- hsa-miR-26b-5p (MIRT029730)
- hsa-miR-877-5p (MIRT037325)
- hsa-miR-615-3p (MIRT039637)
- hsa-miR-505-3p (MIRT041006)
- hsa-miR-92a-3p (MIRT049601)
- hsa-miR-25-3p (MIRT050308)
- hsa-let-7f-5p (MIRT054390)
- hsa-miR-331-5p (MIRT517296)
- hsa-miR-4666a-5p (MIRT517297)
- hsa-miR-8068 (MIRT517298)
- hsa-miR-143-5p (MIRT517299)
- hsa-miR-3944-5p (MIRT517300)
- hsa-miR-5087 (MIRT517301)
- hsa-miR-657 (MIRT517302)
- hsa-miR-3665 (MIRT517303)
- hsa-miR-298 (MIRT517304)
- hsa-miR-4748 (MIRT517305)
- hsa-miR-4464 (MIRT517306)
- hsa-miR-4678 (MIRT517307)
- hsa-miR-376c-3p (MIRT517308)
- mmu-miR-712-5p (MIRT600944)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ELF4
- Browse OriGene Inhibitory RNA Products For ELF4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELF4
Clone Products
- Applied Biological Materials (abm): Clones for ELF4 - Select products 50% OFF >
- * ELF4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ELF4
- Addgene plasmids for ELF4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ELF4
Cell Line Products
-
Horizon Cell Lines for ELF4
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nuclear bodies (3)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | IEA,IBA | 21873635 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0016604 | nuclear body | IDA | -- |
| GO:0016605 | PML body | IEA,IDA | 14970218 |
Pathways & Interactions for ELF4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | AMP-activated Protein Kinase (AMPK) Signaling | ||
Pathways by source for ELF4 Gene
1 Sino Biological pathway for ELF4 Gene
Interacting Proteins for ELF4 Gene
GPS-Prot Interaction Network for ELF4
SIGNOR curated interactions 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 | IEA,ISS | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0030154 | cell differentiation | IBA | 21873635 |
Drugs & Compounds for ELF4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| ISIS 183750 | Pharma | inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for ELF4 Gene
mRNA/cDNA for ELF4 Gene
- 2 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000335997 4145 nts (view in UCSC)
- ENST00000308167 5140 nts (view in UCSC)
- ENST00000434609 406 nts (view in UCSC)
- ENST00000615377 3878 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ELF4 - Select products 50% OFF >
- * ELF4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ELF4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ELF4
-
Santa Cruz Biotechnology (SCBT) CRISPR for ELF4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ELF4
- Browse OriGene Inhibitory RNA Products For ELF4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELF4
Clone Products
- Applied Biological Materials (abm): Clones for ELF4 - Select products 50% OFF >
- * ELF4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ELF4
- Addgene plasmids for ELF4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ELF4
| 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
Expression for ELF4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
-
Epithelial Cells
- Basal Keratinocytes Embryonic Epidermis
-
Hair
- Basal Keratinocytes Embryonic Epidermis
- Brain (Nervous System)
- Thymus (Hematopoietic System)
-
Lymph (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for ELF4 Gene
This gene is overexpressed in Whole Blood (x9.4).
This gene is overexpressed in Saliva (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ELF4 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELF4
SOURCE GeneReport for Unigene cluster for ELF4 Gene:
Hs.271940mRNA 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
- Blood(2.4)
- Bone marrow(2.4)
- Intestine(2.1)
- Kidney(2.1)
- Spleen(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
Primer Products
-
OriGene qPCR primer pairs for ELF4
-
OriGene qPCR primer pairs and template standards for ELF4
Gene Expression Assay Products
Orthologs for ELF4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Dog (Canis familiaris) |
Mammalia | ELF4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ELF4 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Elf4 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Elf4 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ELF4 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Zebrafish (Danio rerio) |
Actinopterygii | ef1 31 |
|
OneToOne | |
| -- 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Eip74EF 32 |
|
|
|
| Worm (Caenorhabditis elegans) |
Secernentea | C24A1.2 32 |
|
|
|
| ets-8 31 |
|
ManyToMany | |||
| elf-1 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for ELF4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ELF4: view image
Paralogs for ELF4 Gene
Paralogs for ELF4 Gene
(3) SIMAP similar genes for ELF4 Gene using alignment to 2 proteins:
- ELF4_HUMAN
- B1AL80_HUMAN
Variants for ELF4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELF4 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 736824 | Benign: not provided | 130,072,318(-) | G/A | MISSENSE_VARIANT | |
| 756677 | Likely Benign: not provided | 130,069,575(-) | A/G | SYNONYMOUS_VARIANT | |
| 784732 | Benign: not provided | 130,066,903(-) | G/A | MISSENSE_VARIANT | |
| 788344 | Benign: not provided | 130,069,380(-) | C/T | SYNONYMOUS_VARIANT | |
| rs2181440 | Benign: not specified | 130,067,204(-) | C/T | SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELF4 Gene
Disorders for ELF4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| isolated growth hormone deficiency, type iii, with agammaglobulinemia |
|
|
| myeloid leukemia |
|
|
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
No data available for Genatlas for ELF4 Gene
Publications for ELF4 Gene
- 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 23
- 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 23
- 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 23
- 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
- The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
ExternalLinks
Products for ELF4 Gene
- Custom Antibody ServicesOriGene Antibodies for ELF4
- AP22807PU-N
- AP51410PU-N
- CF810090
- CF810091
- CF810092
- CF810093
- CF810094
- CF810095
- CF810096
- CF810142
- CF810143
- TA313808
- TA324904
- TA329366
- TA330213
- TA335189
- TA342333
- TA810090
- TA810090S
- TA810091
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- antibodies-online: Show 32 available Elf4 Antibodies ranked by validation data
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Sources for ELF4 Gene
- (1) GeneCards
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- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
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- (44) Atlas
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
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- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
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- (100) DGIdb
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- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
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- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
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- (148) RNACentral
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- (152) DiseaseEnhancer
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- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB