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EHF ETS homologous factor [ Homo sapiens (human) ]

Gene ID: 26298, updated on 12-Oct-2019

Summary

Official Symbol
EHFprovided by HGNC
Official Full Name
ETS homologous factorprovided by HGNC
Primary source
HGNC:HGNC:3246
See related
Ensembl:ENSG00000135373 MIM:605439
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ESE3; ESEJ; ESE3B
Summary
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]
Expression
Biased expression in esophagus (RPKM 89.9), colon (RPKM 60.6) and 12 other tissues See more
Orthologs

Genomic context

See EHF in Genome Data Viewer
Location:
11p13
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (34621093..34663288)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (34642588..34684835)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2707 Neighboring gene Sharpr-MPRA regulatory region 12213 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 3 Neighboring gene uncharacterized LOC102723568 Neighboring gene Sharpr-MPRA regulatory region 2558

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
NHGRI GWA Catalog
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
NHGRI GWA Catalog
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
NHGRI GWA Catalog
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
NHGRI GWA Catalog
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
NHGRI GWA Catalog
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
ETS homologous factor
Names
ESE3 transcription factor
ETS domain-containing transcription factor
epithelium-specific Ets transcription factor 3
hEHF

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029177.1 RefSeqGene

    Range
    5001..47248
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206615.2NP_001193544.1  ETS homologous factor isoform 3

    See identical proteins and their annotated locations for NP_001193544.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an internal segment compared to isoform 1.
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS55753.1
    UniProtKB/Swiss-Prot
    Q9NZC4
    Related
    ENSP00000399733.2, ENST00000450654.6
    Conserved Domains (2) summary
    cd08539
    Location:39116
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:183270
    ETS; erythroblast transformation specific domain
  2. NM_001206616.2NP_001193545.1  ETS homologous factor isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS55752.1
    UniProtKB/Swiss-Prot
    Q9NZC4
    Related
    ENSP00000435835.1, ENST00000531794.5
    Conserved Domains (2) summary
    cd08539
    Location:61138
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:228315
    ETS; erythroblast transformation specific domain
  3. NM_012153.6NP_036285.2  ETS homologous factor isoform 2

    See identical proteins and their annotated locations for NP_036285.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS7894.1
    UniProtKB/Swiss-Prot
    Q9NZC4
    Related
    ENSP00000257831.3, ENST00000257831.7
    Conserved Domains (2) summary
    cd08539
    Location:39116
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:206293
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    34621093..34663288
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519984.1XP_011518286.1  ETS homologous factor isoform X3

    See identical proteins and their annotated locations for XP_011518286.1

    UniProtKB/Swiss-Prot
    Q9NZC4
    Conserved Domains (2) summary
    cd08539
    Location:39116
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:206293
    ETS; erythroblast transformation specific domain
  2. XM_024448433.1XP_024304201.1  ETS homologous factor isoform X3

    Related
    ENSP00000433508.1, ENST00000530286.5
    Conserved Domains (2) summary
    cd08539
    Location:39116
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:206293
    ETS; erythroblast transformation specific domain
  3. XM_011519983.1XP_011518285.1  ETS homologous factor isoform X2

    Conserved Domains (2) summary
    cd08539
    Location:42119
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:209296
    ETS; erythroblast transformation specific domain
  4. XM_005252862.1XP_005252919.1  ETS homologous factor isoform X5

    See identical proteins and their annotated locations for XP_005252919.1

    UniProtKB/Swiss-Prot
    Q9NZC4
    Conserved Domains (2) summary
    cd08539
    Location:39116
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:183270
    ETS; erythroblast transformation specific domain
  5. XM_005252860.1XP_005252917.1  ETS homologous factor isoform X3

    See identical proteins and their annotated locations for XP_005252917.1

    UniProtKB/Swiss-Prot
    Q9NZC4
    Conserved Domains (2) summary
    cd08539
    Location:39116
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:206293
    ETS; erythroblast transformation specific domain
  6. XM_024448432.1XP_024304200.1  ETS homologous factor isoform X3

    Related
    ENSP00000435837.1, ENST00000533754.5
    Conserved Domains (2) summary
    cd08539
    Location:39116
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:206293
    ETS; erythroblast transformation specific domain
  7. XM_005252857.1XP_005252914.1  ETS homologous factor isoform X1

    Conserved Domains (2) summary
    cd08539
    Location:61138
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:227314
    ETS; erythroblast transformation specific domain
  8. XM_005252861.1XP_005252918.1  ETS homologous factor isoform X4

    Conserved Domains (2) summary
    cd08539
    Location:61138
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:205292
    ETS; erythroblast transformation specific domain
  9. XM_024448431.1XP_024304199.1  ETS homologous factor isoform X3

    Conserved Domains (2) summary
    cd08539
    Location:39116
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:206293
    ETS; erythroblast transformation specific domain
  10. XM_024448434.1XP_024304202.1  ETS homologous factor isoform X3

    Conserved Domains (2) summary
    cd08539
    Location:39116
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:206293
    ETS; erythroblast transformation specific domain
  11. XM_011519985.1XP_011518287.1  ETS homologous factor isoform X3

    See identical proteins and their annotated locations for XP_011518287.1

    UniProtKB/Swiss-Prot
    Q9NZC4
    Conserved Domains (2) summary
    cd08539
    Location:39116
    SAM_PNT-ESE-3-like; Sterile alpha motif (SAM)/Pointed domain of ESE-3 like ETS transcriptional regulators
    smart00413
    Location:206293
    ETS; erythroblast transformation specific domain
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