Aliases for ELF2 Gene

Aliases for ELF2 Gene

  • E74 Like ETS Transcription Factor 2 2 3 5
  • NERF 2 3 4
  • E74-Like Factor 2 (Ets Domain Transcription Factor) 2 3
  • ETS-Related Transcription Factor Elf-2 3 4
  • NERF-1A 2 3
  • NERF-1B 2 3
  • NERF-2 2 3
  • EU32 2 3
  • Ets Family Transcription Factor ELF2C 3
  • New Ets-Related Factor 3
  • New ETS-Related Factor 4
  • E74-Like Factor 2 4
  • NERF-1a,B 3
  • ELF2 5

External Ids for ELF2 Gene

Previous GeneCards Identifiers for ELF2 Gene

  • GC04M140884
  • GC04M140278
  • GC04M140445
  • GC04M140556
  • GC04M140336
  • GC04M140198
  • GC04M139978
  • GC04M135708

Summaries for ELF2 Gene

GeneCards Summary for ELF2 Gene

ELF2 (E74 Like ETS Transcription Factor 2) is a Protein Coding gene. Diseases associated with ELF2 include Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome. Among its related pathways are ADP signalling through P2Y purinoceptor 12 and Immune response IL-23 signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription factor activity, RNA polymerase II-specific. An important paralog of this gene is ELF1.

UniProtKB/Swiss-Prot Summary for ELF2 Gene

  • Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter.
  • Isoform 2 may function in repression of RUNX1-mediated transactivation.

Gene Wiki entry for ELF2 Gene

Additional gene information for ELF2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELF2 Gene

Genomics for ELF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ELF2 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 ELF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELF2

Top Transcription factor binding sites by QIAGEN in the ELF2 gene promoter:
  • AML1a

Genomic Locations for ELF2 Gene

Genomic Locations for ELF2 Gene
chr4:139,028,112-139,177,218
(GRCh38/hg38)
Size:
149,107 bases
Orientation:
Minus strand
chr4:139,949,266-140,098,372
(GRCh37/hg19)
Size:
149,107 bases
Orientation:
Minus strand

Genomic View for ELF2 Gene

Genes around ELF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELF2 Gene

Proteins for ELF2 Gene

  • Protein details for ELF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15723-ELF2_HUMAN
    Recommended name:
    ETS-related transcription factor Elf-2
    Protein Accession:
    Q15723
    Secondary Accessions:
    • E9PCX3
    • Q15724
    • Q15725
    • Q6P1K5

    Protein attributes for ELF2 Gene

    Size:
    593 amino acids
    Molecular mass:
    63967 Da
    Quaternary structure:
    • Interacts with the LIM domains of LMO2 (By similarity). Interacts via its N-terminal region with RUNX1.
    SequenceCaution:
    • Sequence=AAH65025.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for ELF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELF2 Gene

Post-translational modifications for ELF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ELF2 Gene

Domains & Families for ELF2 Gene

Gene Families for ELF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ELF2 Gene

Suggested Antigen Peptide Sequences for ELF2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79354, highly similar to ETS-related transcription factor Elf-2 (B7Z720_HUMAN)
  • cDNA FLJ51444, highly similar to ETS-related transcription factor Elf-2 (B7Z8R4_HUMAN)
  • New ETS-related factor (ELF2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15723

UniProtKB/Swiss-Prot:

ELF2_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ELF2: view

Function for ELF2 Gene

Molecular function for ELF2 Gene

UniProtKB/Swiss-Prot Function:
Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter.
UniProtKB/Swiss-Prot Function:
Isoform 2 may function in repression of RUNX1-mediated transactivation.

Phenotypes From GWAS Catalog for ELF2 Gene

Gene Ontology (GO) - Molecular Function for ELF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0005515 protein binding IPI 14970218
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with ELF2: view
genes like me logo Genes that share phenotypes with ELF2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELF2

Clone Products

  • Addgene plasmids for ELF2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ELF2 Gene

Localization for ELF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELF2 Gene

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 ELF2 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ELF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with ELF2: view

Pathways & Interactions for ELF2 Gene

PathCards logo

SuperPathways for ELF2 Gene

genes like me logo Genes that share pathways with ELF2: view

Pathways by source for ELF2 Gene

1 BioSystems pathway for ELF2 Gene
1 PharmGKB pathway for ELF2 Gene
1 GeneGo (Thomson Reuters) pathway for ELF2 Gene
  • Development Angiopoietin - Tie2 signaling

SIGNOR curated interactions for ELF2 Gene

Activates:

Gene Ontology (GO) - Biological Process for ELF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IDA 8756667
GO:0030154 cell differentiation IBA 21873635
GO:0045893 positive regulation of transcription, DNA-templated IDA 8756667
GO:0050855 regulation of B cell receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with ELF2: view

Drugs & Compounds for ELF2 Gene

No Compound Related Data Available

Transcripts for ELF2 Gene

mRNA/cDNA for ELF2 Gene

11 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELF2

Clone Products

  • Addgene plasmids for ELF2

Alternative Splicing Database (ASD) splice patterns (SP) for ELF2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a · 12b
SP1:
SP2: - -
SP3: - - -
SP4: - - - -
SP5:
SP6:
SP7:

Relevant External Links for ELF2 Gene

GeneLoc Exon Structure for
ELF2

Expression for ELF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELF2 Gene

Protein differential expression in normal tissues from HIPED for ELF2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (48.2) and Heart (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ELF2 Gene



Protein tissue co-expression partners for ELF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELF2

SOURCE GeneReport for Unigene cluster for ELF2 Gene:

Hs.634040

mRNA Expression by UniProt/SwissProt for ELF2 Gene:

Q15723-ELF2_HUMAN
Tissue specificity: Expressed in all fetal and adult tissues examined. Among fetal tissues, highest levels of expression detected in heart, lung, liver and kidney, and lower levels in brain. Among adult tissues, highest levels of expression detected in heart, placenta, lung, skeletal muscle, spleen, thymus, testis and ovary. Moderate expression in prostate, small intestine, kidney, liver and pancreas, and weak expression in colon, brain and peripheral blood lymphocytes.

Evidence on tissue expression from TISSUES for ELF2 Gene

  • Liver(4.4)
  • Nervous system(2.5)
  • Heart(2.3)
  • Muscle(2.2)
  • Skin(2.2)
  • Blood(2.1)
  • Lung(2.1)
  • Spleen(2.1)
  • Kidney(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ELF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELF2 Gene

Orthologs for ELF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ELF2 30 31
  • 99.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ELF2 30 31
  • 94.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ELF2 30 31
  • 94.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Elf2 30
  • 89.69 (n)
Mouse
(Mus musculus)
Mammalia Elf2 30 17 31
  • 88.54 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ELF2 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ELF2 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ELF2 30 31
  • 80.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ELF2 31
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19357 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.17593 30
Zebrafish
(Danio rerio)
Actinopterygii elf2b 30 31
  • 61.61 (n)
OneToMany
elf2a 31
  • 49 (a)
OneToMany
elf2 30
Fruit Fly
(Drosophila melanogaster)
Insecta Eip74EF 32
  • 77 (a)
Worm
(Caenorhabditis elegans)
Secernentea C24A1.2 32
  • 56 (a)
ets-8 31
  • 34 (a)
ManyToMany
elf-1 31
  • 25 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 22 (a)
OneToMany
Species where no ortholog for ELF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for ELF2 Gene

ENSEMBL:
Gene Tree for ELF2 (if available)
TreeFam:
Gene Tree for ELF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELF2: view image

Paralogs for ELF2 Gene

(8) SIMAP similar genes for ELF2 Gene using alignment to 6 proteins:

  • ELF2_HUMAN
  • B7Z720_HUMAN
  • D6R9B1_HUMAN
  • D6RGD9_HUMAN
  • D6RHI1_HUMAN
  • E9PCX3_HUMAN

Pseudogenes.org Pseudogenes for ELF2 Gene

genes like me logo Genes that share paralogs with ELF2: view

Variants for ELF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELF2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs747574524 Likely Pathogenic: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 139,137,692(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ELF2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ELF2 Gene

Variant ID Type Subtype PubMed ID
esv275286 CNV gain+loss 21479260
nsv1020743 CNV loss 25217958
nsv1028153 CNV loss 25217958
nsv1131828 CNV deletion 24896259
nsv964098 CNV duplication 23825009
nsv980260 CNV duplication 23825009

Variation tolerance for ELF2 Gene

Residual Variation Intolerance Score: 36.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELF2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELF2 Gene

Disorders for ELF2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ELF2 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ELF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ELF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ELF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELF2 Gene

Publications for ELF2 Gene

  1. Characterization of NERF, a novel transcription factor related to the Ets factor ELF-1. (PMID: 8756667) Oettgen P … Libermann TA (Molecular and cellular biology 1996) 2 3 4 23
  2. 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. (PMID: 14970218) Cho JY … Libermann TA (The Journal of biological chemistry 2004) 3 4 23
  3. E74-like factor 2 transactivates valosin-containing protein gene, a gene involved in cancer growth. (PMID: 18544453) Qiu Y … Aozasa K (Experimental and molecular pathology 2008) 3 23
  4. E74-like factor 2 regulates valosin-containing protein expression. (PMID: 17368566) Zhang B … Aozasa K (Biochemical and biophysical research communications 2007) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ELF2 Gene

Sources for ELF2 Gene