The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very ... See more...

Aliases for ELF5 Gene

Aliases for ELF5 Gene

  • E74 Like ETS Transcription Factor 5 2 3 5
  • E74-Like Factor 5 (Ets Domain Transcription Factor) 2 3
  • Epithelium-Restricted ESE-1-Related Ets Factor 3 4
  • Epithelium-Specific Ets Transcription Factor 2 3 4
  • ETS-Related Transcription Factor Elf-5 3 4
  • ESE2 3 4
  • E74-Like Factor 5 4
  • ESE-2 4

External Ids for ELF5 Gene

Previous GeneCards Identifiers for ELF5 Gene

  • GC11M036053
  • GC11M035178
  • GC11M034539
  • GC11M034464
  • GC11M034456
  • GC11M034197

Summaries for ELF5 Gene

Entrez Gene Summary for ELF5 Gene

  • The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]

GeneCards Summary for ELF5 Gene

ELF5 (E74 Like ETS Transcription Factor 5) is a Protein Coding gene. Diseases associated with ELF5 include Down Syndrome and Isolated Growth Hormone Deficiency, Type Ii. Among its related pathways are Prolactin 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 EHF.

UniProtKB/Swiss-Prot Summary for ELF5 Gene

  • Transcriptionally activator that may play a role in regulating the later stages of keratinocytes terminal differentiation.
  • Isoform 2 binds to DNA sequences containing the consensus nucleotide core sequence GGA[AT]. Transcriptionally activates SPRR2A and the parotid gland-specific PSP promoters.

Gene Wiki entry for ELF5 Gene

Additional gene information for ELF5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELF5 Gene

Genomics for ELF5 Gene

GeneHancer (GH) Regulatory Elements for ELF5 Gene

Promoters and enhancers for ELF5 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
GH11J034512 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 505.9 +0.2 154 1.4 CTCF NRF1 POLR2G REST MYC RAD21 TRIM22 SMC3 HDAC2 CTBP1 ELF5 lnc-ABTB2-2
GH11J034511 Promoter 0.3 EPDnew 500.7 +2.1 2070 0.1 ELF5 lnc-ABTB2-2 piR-50443-060
GH11J034824 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 32.8 -312.1 -312097 3 EP300 POLR2G NCOR1 GTF2E2 KDM6A ZBTB25 TGIF2 TEAD1 TBX3 FOXA2 LOC105376625 ELF5 EHF APIP PDHX lnc-APIP-3 LOC102723568
GH11J034638 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.3 -129.4 -129437 9.9 ZNF217 CTCF TCF12 POLR2G FOS ZIC2 KDM6A ZBTB25 ATF2 GATAD2B NONHSAG008038.2 ELF5 EHF APIP ABTB2 HSALNG0083585
GH11J034598 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 14.8 -88.2 -88150 6.2 TCF12 POLR2G NCOR1 GTF2E2 PHB2 KDM6A TCF7 AFF1 TARDBP REST HSALNG0083581 ELF5 EHF piR-43105-082
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELF5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELF5

Top Transcription factor binding sites by QIAGEN in the ELF5 gene promoter:
  • c-Myb
  • CREB
  • deltaCREB
  • Evi-1
  • TGIF

Genomic Locations for ELF5 Gene

Genomic Locations for ELF5 Gene
chr11:34,478,793-34,513,805
(GRCh38/hg38)
Size:
35,013 bases
Orientation:
Minus strand
chr11:34,500,340-34,535,352
(GRCh37/hg19)
Size:
35,013 bases
Orientation:
Minus strand

Genomic View for ELF5 Gene

Genes around ELF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELF5 Gene

Proteins for ELF5 Gene

  • Protein details for ELF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKW6-ELF5_HUMAN
    Recommended name:
    ETS-related transcription factor Elf-5
    Protein Accession:
    Q9UKW6
    Secondary Accessions:
    • A6XAE6
    • A8K452
    • O95175
    • Q8N2K9
    • Q96QY3
    • Q9UKW5

    Protein attributes for ELF5 Gene

    Size:
    265 amino acids
    Molecular mass:
    31263 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ELF5 Gene

    Alternative splice isoforms for ELF5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELF5 Gene

Post-translational modifications for ELF5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ELF5 Gene

Domains & Families for ELF5 Gene

Gene Families for ELF5 Gene

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

Protein Domains for ELF5 Gene

Blocks:
  • Sterile alpha motif (SAM)/Pointed domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ELF5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92906, Homo sapiens E74-like factor 5 (ets domain transcription factor)(ELF5), mRNA (A8K443_HUMAN)
  • Epithelium-specific Ets transcription factor 2 (ELF5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKW6

UniProtKB/Swiss-Prot:

ELF5_HUMAN :
  • The PNT domain acts as a transcriptional activator.
  • Belongs to the ETS family.
Domain:
  • The PNT domain acts as a transcriptional activator.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ELF5: view

Function for ELF5 Gene

Molecular function for ELF5 Gene

UniProtKB/Swiss-Prot Function:
Transcriptionally activator that may play a role in regulating the later stages of keratinocytes terminal differentiation.
UniProtKB/Swiss-Prot Function:
Isoform 2 binds to DNA sequences containing the consensus nucleotide core sequence GGA[AT]. Transcriptionally activates SPRR2A and the parotid gland-specific PSP promoters.
GENATLAS Biochemistry:
E74-like factor 5,ETS transcription factor family,expressed in differentiated keratinocytes and glandular epithelium,lung,stomach,kidney,prostate,bladder,mammary gland,putative regulator of epithelial cell differentiation,not expressed in hematopoietic compartiments,possibly involved in humorigenesis

Phenotypes From GWAS Catalog for ELF5 Gene

Gene Ontology (GO) - Molecular Function for ELF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with ELF5: view
genes like me logo Genes that share phenotypes with ELF5: view

Animal Model Products

CRISPR Products

Targeted motifs for ELF5 Gene
HOMER Transcription Factor Regulatory Elements motif ELF5
  • Consensus sequence: ACVAGGAAGT Submotif: canonical Cell Type: T47D GEO ID: GSE30407

Clone Products

  • Addgene plasmids for ELF5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models and Transcription Factor Targets for ELF5 Gene

Localization for ELF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELF5 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 ELF5 gene
Compartment Confidence
nucleus 4
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ELF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IBA 21873635
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ELF5: view

Pathways & Interactions for ELF5 Gene

PathCards logo

SuperPathways for ELF5 Gene

SuperPathway Contained pathways
1 Prolactin Signaling Pathway
genes like me logo Genes that share pathways with ELF5: view

Pathways by source for ELF5 Gene

1 KEGG pathway for ELF5 Gene

Gene Ontology (GO) - Biological Process for ELF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001712 ectodermal cell fate commitment IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA,IBA 21873635
GO:0007398 ectoderm development IEA --
GO:0030154 cell differentiation IBA 21873635
genes like me logo Genes that share ontologies with ELF5: view

No data available for SIGNOR curated interactions for ELF5 Gene

Drugs & Compounds for ELF5 Gene

No Compound Related Data Available

Transcripts for ELF5 Gene

mRNA/cDNA for ELF5 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ELF5

Alternative Splicing Database (ASD) splice patterns (SP) for ELF5 Gene

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

Relevant External Links for ELF5 Gene

GeneLoc Exon Structure for
ELF5

Expression for ELF5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELF5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELF5 Gene

This gene is overexpressed in Minor Salivary Gland (x19.4), Breast - Mammary Tissue (x13.0), and Bladder (x4.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELF5

SOURCE GeneReport for Unigene cluster for ELF5 Gene:

Hs.11713

mRNA Expression by UniProt/SwissProt for ELF5 Gene:

Q9UKW6-ELF5_HUMAN
Tissue specificity: Expressed exclusively in tissues with a high content of epithelial cells. Highly expressed in salivary gland, mammary gland, kidney and prostate. Weakly expressed in placenta and lung. Isoform 1 and isoform 2 are differentially expressed in different tissues. In the kidney, only isoform 1 was expressed, while prostate expressed both isoforms, with levels of isoform 2 being higher. Expression is up-regulated during keratinocyte differentiation. Several epithelial carcinoma cell lines showed lack of expression.

Evidence on tissue expression from TISSUES for ELF5 Gene

  • Kidney(4.3)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with ELF5: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELF5 Gene

Orthologs for ELF5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELF5 Gene

Organism Taxonomy Gene Similarity Type Details
rat
(Rattus norvegicus)
Mammalia LOC100910896 30
  • 100 (n)
chimpanzee
(Pan troglodytes)
Mammalia ELF5 31 30
  • 99.62 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Elf5 31
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELF5 31 30
  • 91.9 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELF5 31
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELF5 31 30
  • 89.65 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELF5 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELF5 31 30
  • 77.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELF5 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elf5 30
  • 64.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta aop 31
  • 9 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-97 31
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 9 (a)
OneToMany
Species where no ortholog for ELF5 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for ELF5 Gene

ENSEMBL:
Gene Tree for ELF5 (if available)
TreeFam:
Gene Tree for ELF5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELF5: view image

Paralogs for ELF5 Gene

(15) SIMAP similar genes for ELF5 Gene using alignment to 3 proteins:

  • ELF5_HUMAN
  • A6XAE6_HUMAN
  • A8K443_HUMAN
genes like me logo Genes that share paralogs with ELF5: view

Variants for ELF5 Gene

Additional dbSNP identifiers (rs#s) for ELF5 Gene

Structural Variations from Database of Genomic Variants (DGV) for ELF5 Gene

Variant ID Type Subtype PubMed ID
esv2667974 CNV deletion 23128226
esv2761661 CNV loss 21179565
esv3625912 CNV loss 21293372
esv3625913 CNV loss 21293372
nsv1075830 CNV duplication 25765185
nsv1115404 CNV duplication 24896259
nsv1146072 CNV duplication 26484159
nsv832114 CNV gain 17160897

Variation tolerance for ELF5 Gene

Residual Variation Intolerance Score: 53.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 21.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELF5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELF5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELF5 Gene

Disorders for ELF5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ELF5 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • trisomy 21
isolated growth hormone deficiency, type ii
  • ighd2
luminal breast carcinoma
  • breast tumor luminal
- elite association - COSMIC cancer census association via MalaCards
Search ELF5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ELF5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ELF5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELF5 Gene

Publications for ELF5 Gene

  1. A novel transcription factor, ELF5, belongs to the ELF subfamily of ETS genes and maps to human chromosome 11p13-15, a region subject to LOH and rearrangement in human carcinoma cell lines. (PMID: 9840936) Zhou J … Kola I (Oncogene 1998) 2 3 4 23 54
  2. Characterization of ESE-2, a novel ESE-1-related Ets transcription factor that is restricted to glandular epithelium and differentiated keratinocytes. (PMID: 10506207) Oettgen P … Libermann TA (The Journal of biological chemistry 1999) 3 4 23 54
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 3 4 54
  4. Differentiation-specific transcriptional regulation of the ESE-2 gene by a novel keratinocyte-restricted factor. (PMID: 16229011) Tummala R … Sinha S (Journal of cellular biochemistry 2006) 3 23 54
  5. Epithelium-specific ets transcription factor 2 upregulates cytokeratin 18 expression in pulmonary epithelial cells through an interaction with cytokeratin 18 intron 1. (PMID: 15987600) Yaniw D … Hu J (Cell research 2005) 3 23 54

Products for ELF5 Gene

Sources for ELF5 Gene