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EHF ETS homologous factor [ Homo sapiens (human) ]

Gene ID: 26298, updated on 8-Dec-2022

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; AllianceGenome:HGNC:3246
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
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Genomic context

See EHF in Genome Data Viewer
Location:
11p13
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (34621093..34663288)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (34757923..34800105)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (34642640..34684835)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12213 Neighboring gene CRISPRi-validated cis-regulatory element chr11.1780 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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

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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_029177.2 RefSeqGene

    Range
    5002..47197
    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. Variants 3 and 11 both encode the same isoform (3).
    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_001378041.1NP_001364970.1  ETS homologous factor isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 2 and 5-10, encodes isoform 2.
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS7894.1
    UniProtKB/Swiss-Prot
    Q9Y5V5
    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
  4. NM_001378042.1NP_001364971.1  ETS homologous factor isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 2, 4, and 6-10, encodes isoform 2.
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS7894.1
    UniProtKB/Swiss-Prot
    Q9Y5V5
    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
  5. NM_001378043.1NP_001364972.1  ETS homologous factor isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 2, 4, 5, and 7-10, encodes isoform 2.
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS7894.1
    UniProtKB/Swiss-Prot
    Q9Y5V5
    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. NM_001378044.1NP_001364973.1  ETS homologous factor isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 2, 4-6, and 8-10, encodes isoform 2.
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS7894.1
    UniProtKB/Swiss-Prot
    Q9Y5V5
    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
  7. NM_001378045.1NP_001364974.1  ETS homologous factor isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 2, 4-8, and 10, encodes isoform 2.
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS7894.1
    UniProtKB/Swiss-Prot
    Q9Y5V5
    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
  8. NM_001378046.1NP_001364975.1  ETS homologous factor isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 2 and 4-9, encodes isoform 2.
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS7894.1
    UniProtKB/Swiss-Prot
    Q9Y5V5
    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
  9. NM_001378047.1NP_001364976.1  ETS homologous factor isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 2, 4-7, 9, and 10, encodes isoform 2.
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS7894.1
    UniProtKB/Swiss-Prot
    Q9Y5V5
    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. NM_001378048.1NP_001364977.1  ETS homologous factor isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variant 3, encodes isoform 3.
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS55753.1
    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
  11. NM_001378049.1NP_001364978.1  ETS homologous factor isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 13 and 14, encodes isoform 4.
    Source sequence(s)
    AC087783
    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:205292
    ETS; erythroblast transformation specific domain
  12. NM_001378050.1NP_001364979.1  ETS homologous factor isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 12 and 14, encodes isoform 4.
    Source sequence(s)
    AC087783
    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:205292
    ETS; erythroblast transformation specific domain
  13. NM_001378051.1NP_001364980.1  ETS homologous factor isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 12 and 13, encodes isoform 4.
    Source sequence(s)
    AC087783
    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:205292
    ETS; erythroblast transformation specific domain
  14. NM_001378052.1NP_001364981.1  ETS homologous factor isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC087783
    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
  15. NM_001378053.1NP_001364982.1  ETS homologous factor isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC087783
    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
  16. NM_001378054.1NP_001364983.1  ETS homologous factor isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC087783
    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:182269
    ETS; erythroblast transformation specific domain
  17. NM_001378055.1NP_001364984.1  ETS homologous factor isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC087783
    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:186273
    ETS; erythroblast transformation specific domain
  18. NM_001378056.1NP_001364985.1  ETS homologous factor isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC087783
    Conserved Domains (2) summary
    smart00413
    Location:119206
    ETS; erythroblast transformation specific domain
    cl15755
    Location:129
    SAM_superfamily; SAM (Sterile alpha motif )
  19. 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. Variants 2 and 4-10 all encode the same isoform (2).
    Source sequence(s)
    AC087783
    Consensus CDS
    CCDS7894.1
    UniProtKB/Swiss-Prot
    Q9NZC4, Q9Y5V5
    Related
    ENSP00000257831.3, ENST00000257831.8
    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

RNA

  1. NR_165390.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC087783
  2. NR_165391.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC087783

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047426759.1XP_047282715.1  ETS homologous factor isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V5
  2. XM_047426758.1XP_047282714.1  ETS homologous factor isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V5
    Related
    ENSP00000435837.1, ENST00000533754.5
  3. XM_047426755.1XP_047282711.1  ETS homologous factor isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V5
  4. XM_047426756.1XP_047282712.1  ETS homologous factor isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V5
  5. XM_047426761.1XP_047282717.1  ETS homologous factor isoform X2

  6. XM_047426762.1XP_047282718.1  ETS homologous factor isoform X4

  7. XM_047426754.1XP_047282710.1  ETS homologous factor isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V5
  8. XM_047426760.1XP_047282716.1  ETS homologous factor isoform X2

  9. XM_047426753.1XP_047282709.1  ETS homologous factor isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V5
  10. XM_047426757.1XP_047282713.1  ETS homologous factor isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V5
  11. XM_005252861.2XP_005252918.1  ETS homologous factor isoform X3

    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
  12. XM_024448434.2XP_024304202.1  ETS homologous factor isoform X1

    UniProtKB/Swiss-Prot
    Q9Y5V5
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    34757923..34800105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)