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Aliases for EHF Gene

Aliases for EHF Gene

  • ETS Homologous Factor 2 3 5
  • Epithelium-Specific Ets Transcription Factor 3 3 4
  • ETS Domain-Containing Transcription Factor 3 4
  • ESE3 Transcription Factor 2 3
  • ESE3B 3 4
  • ESE3 3 4
  • ESEJ 3 4
  • HEHF 3 4
  • Epithelium-Specific Ets Factor 3 2
  • ESE-3 4

External Ids for EHF Gene

Previous GeneCards Identifiers for EHF Gene

  • GC11P036195
  • GC11P035320
  • GC11P034681
  • GC11P034606
  • GC11P034339

Summaries for EHF Gene

Entrez Gene Summary for EHF Gene

  • This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

GeneCards Summary for EHF Gene

EHF (ETS Homologous Factor) is a Protein Coding gene. Diseases associated with EHF include Allergic Urticaria and Neurodermatitis. 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 ELF3.

UniProtKB/Swiss-Prot for EHF Gene

  • Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene.

Gene Wiki entry for EHF Gene

Additional gene information for EHF Gene

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

Genomics for EHF Gene

GeneHancer (GH) Regulatory Elements for EHF Gene

Promoters and enhancers for EHF 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
GH11I034620 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.2 230 2.5 FOXA2 NR4A1 MAFG ZNF592 IRF9 MEF2D GATA3 FOXK2 IKZF1 NR2C1 EHF NDUFB8P3
GH11I034622 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 550.8 +2.9 2947 2.2 CTCF NR2F1 JUNB EBF1 BATF ATF2 RELA ETV6 RUNX3 IKZF2 EHF NDUFB8P3
GH11I034621 Enhancer 1 ENCODE dbSUPER 550.8 -1.9 -1852 0.2 HDAC1 PKNOX1 TCF12 GATA2 EGR2 ZEB2 KLF16 SMARCA4 IKZF1 HMBOX1 EHF GC11P034575
GH11I034619 Enhancer 0.9 ENCODE dbSUPER 550.8 -1.4 -1398 0.6 HDAC1 PKNOX1 LEF1 TCF12 FOSL1 CCNT2 CTBP1 GATA3 POLR2A ADNP EHF GC11P034575
GH11I034638 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.9 +22.1 22119 9.8 ATF1 FOXA2 ARID4B ZNF48 YY1 ATF7 FOS MCM3 RXRA MIER2 ELF5 EHF APIP ABTB2 NDUFB8P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EHF on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for EHF Gene

Genomic Locations for EHF Gene
chr11:34,621,041-34,663,288
(GRCh38/hg38)
Size:
42,248 bases
Orientation:
Plus strand
chr11:34,642,588-34,684,835
(GRCh37/hg19)

Genomic View for EHF Gene

Genes around EHF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EHF Gene

Proteins for EHF Gene

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

    Protein Symbol:
    Q9NZC4-EHF_HUMAN
    Recommended name:
    ETS homologous factor
    Protein Accession:
    Q9NZC4
    Secondary Accessions:
    • D3DR08
    • D3DR10
    • E9PSB2
    • Q9H509
    • Q9UKF9
    • Q9Y5V4
    • Q9Y5V5

    Protein attributes for EHF Gene

    Size:
    300 amino acids
    Molecular mass:
    34892 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EHF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EHF Gene

Post-translational modifications for EHF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EHF Gene

Domains & Families for EHF Gene

Gene Families for EHF Gene

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

Suggested Antigen Peptide Sequences for EHF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZC4

UniProtKB/Swiss-Prot:

EHF_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 EHF: view

Function for EHF Gene

Molecular function for EHF Gene

GENATLAS Biochemistry:
ETS homologous factor,ETS transcription regulator family,differentially expressed in normal tissues and carcinomas,noteworthy in carcinomas associated with an 11p12 deletion (see TSG11G) repressing ETS2 induced activity of stromelysin 1 (MMP3) and collagenase 1 (MMP8) promoters
UniProtKB/Swiss-Prot Function:
Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene.
UniProtKB/Swiss-Prot Induction:
By IL1B/interleukin-1 beta and TNF in bronchial smooth muscle cells and fibroblasts. By IL10/interleukin-10 and IFNG/IFN-gamma in monocyte-derived dendritic cells.

Phenotypes From GWAS Catalog for EHF Gene

Gene Ontology (GO) - Molecular Function for EHF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 17027647
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 17027647
GO:0003677 DNA binding TAS 10527851
GO:0003700 DNA binding transcription factor activity IDA,IEA 10644770
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with EHF: view
genes like me logo Genes that share phenotypes with EHF: view

miRNA for EHF Gene

miRTarBase miRNAs that target EHF
Targeted motifs for EHF Gene
HOMER Transcription Factor Regulatory Elements motif EHF
  • Consensus sequence: AVCAGGAAGT Submotif: canonical Cell Type: LoVo GEO ID: GSE49402

Clone Products

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

Localization for EHF Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHF Gene

Nucleus.

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 EHF gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 3
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EHF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC,IEA 10644770
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with EHF: view

Pathways & Interactions for EHF Gene

No Data Available

Gene Ontology (GO) - Biological Process for EHF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development TAS 10644770
GO:0008283 cell proliferation TAS 10644770
genes like me logo Genes that share ontologies with EHF: view

No data available for Pathways by source and SIGNOR curated interactions for EHF Gene

Drugs & Compounds for EHF Gene

(1) Drugs for EHF Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pharmaceutical Solutions Pharma 9000
genes like me logo Genes that share compounds with EHF: view

Transcripts for EHF Gene

Unigene Clusters for EHF Gene

Ets homologous factor:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - -
SP4: - -
SP5: - - - - -
SP6: -
SP7: - - - - - - - - - -
SP8: - - - - - - - - - -
SP9: - - - - - - - - - -
SP10: - - - - - - -
SP11: -
SP12: - - - - - - -
SP13: - - -
SP14: -
SP15:
SP16: - - - -

ExUns: 16a · 16b ^ 17a · 17b · 17c · 17d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for EHF Gene

GeneLoc Exon Structure for
EHF
ECgene alternative splicing isoforms for
EHF

Expression for EHF Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Esophagus - Mucosa (x11.9), Minor Salivary Gland (x10.2), and Vagina (x5.6).

Protein differential expression in normal tissues from HIPED for EHF Gene

This gene is overexpressed in Salivary gland (45.0) and Skin (24.0).

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



Protein tissue co-expression partners for EHF Gene

NURSA nuclear receptor signaling pathways regulating expression of EHF Gene:

EHF

SOURCE GeneReport for Unigene cluster for EHF Gene:

Hs.653859

mRNA Expression by UniProt/SwissProt for EHF Gene:

Q9NZC4-EHF_HUMAN
Tissue specificity: Expressed exclusively in tissues with a high content of epithelial cells. Highly expressed in salivary gland, mammary gland, prostate, and lung. Weakly expressed in kidney and colon. Not detected in heart, brain, placenta, liver, skeletal muscle, spleen, thymus, testis, ovary, small intestine or peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for EHF Gene

  • Lung(3.6)
  • Intestine(2.9)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with EHF: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EHF Gene

Orthologs for EHF Gene

This gene was present in the common ancestor of animals.

Orthologs for EHF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EHF 33 34
  • 99.78 (n)
cow
(Bos Taurus)
Mammalia EHF 33 34
  • 92.56 (n)
dog
(Canis familiaris)
Mammalia EHF 33 34
  • 91.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EHF 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ehf 33 16 34
  • 89 (n)
rat
(Rattus norvegicus)
Mammalia Ehf 33
  • 88.33 (n)
oppossum
(Monodelphis domestica)
Mammalia EHF 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves EHF 33 34
  • 79.53 (n)
lizard
(Anolis carolinensis)
Reptilia EHF 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ehf 33
  • 72.26 (n)
zebrafish
(Danio rerio)
Actinopterygii ehf 33 34
  • 62.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta aop 34
  • 9 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-97 34
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 10 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3628 33
Species where no ortholog for EHF 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)

Evolution for EHF Gene

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

Paralogs for EHF Gene

Paralogs for EHF Gene

(2) SIMAP similar genes for EHF Gene using alignment to 5 proteins:

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

Variants for EHF Gene

Sequence variations from dbSNP and Humsavar for EHF Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000013954 -- 34,639,799(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000085621 -- 34,639,490(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000110567 -- 34,637,718(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000181091 -- 34,650,467(+) T/G intron_variant
rs1000273998 -- 34,623,968(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1094n100 CNV gain 25217958
dgv1743n54 CNV gain 21841781
dgv63n21 CNV gain 19592680
nsv832116 CNV gain 17160897
nsv832117 CNV loss 17160897

Variation tolerance for EHF Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.76; 57.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EHF Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EHF Gene

MalaCards: The human disease database

(3) MalaCards diseases for EHF Gene - From: DISEASES

Disorder Aliases PubMed IDs
allergic urticaria
neurodermatitis
leprosy 3
  • leprosy, susceptibility to, 3
- elite association - COSMIC cancer census association via MalaCards
Search EHF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EHF

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 EHF: view

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

Publications for EHF Gene

  1. Human chromosomal localization, tissue/tumor expression, and regulatory function of the ets family gene EHF. (PMID: 10527851) Kleinbaum LA … Burton FH (Biochemical and biophysical research communications 1999) 2 3 4 22 58
  2. The epithelium-specific ETS protein EHF/ESE-3 is a context-dependent transcriptional repressor downstream of MAPK signaling cascades. (PMID: 11259407) Tugores A … McCormick MK (The Journal of biological chemistry 2001) 3 4 22 58
  3. ESE-3, a novel member of an epithelium-specific ets transcription factor subfamily, demonstrates different target gene specificity from ESE-1. (PMID: 10644770) Kas K … Libermann TA (The Journal of biological chemistry 2000) 3 4 22 58
  4. Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. (PMID: 21107309) McClay JL … van den Oord EJ (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2011) 3 44 58
  5. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PMID: 18950845) Vega A … Carracedo A (Gynecologic oncology 2009) 3 44 58

Products for EHF Gene

Sources for EHF Gene

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