• Gene id: 26298

Gene Summary

• Gene Symbol: EHF   Gene   UCSC   Ensembl
• Aliases: ESE3, ESE3B, ESEJ
• Gene name: ETS homologous factor
• Alternate names: ETS homologous factor, ESE3 transcription factor, ETS domain-containing transcription factor, epithelium-specific Ets transcription factor 3, hEHF,
• Gene location: 11p13 (34621092: 34663287)     Exons: 17     NC_000011.10
• Gene summary(Entrez): 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 carcino
• OMIM: 605439

Protein Summary

• Protein general information: Q9NZC4  
  • Name: ETS homologous factor (hEHF) (ETS domain containing transcription factor) (Epithelium specific Ets transcription factor 3) (ESE 3)
  • Length: 300  
  • Mass: 34892
  • 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, skele
• Sequence:

  MILEGGGVMNLNPGNNLLHQPPAWTDSYSTCNVSSGFFGGQWHEIHPQYWTKYQVWEWLQHLLDTNQLDANCIPF
  QEFDINGEHLCSMSLQEFTRAAGTAGQLLYSNLQHLKWNGQCSSDLFQSTHNVIVKTEQTEPSIMNTWKDENYLY
  DTNYGSTVDLLDSKTFCRAQISMTTTSHLPVAESPDMKKEQDPPAKCHTKKHNPRGTHLWEFIRDILLNPDKNPG
  LIKWEDRSEGVFRFLKSEAVAQLWGKKKNNSSMTYEKLSRAMRYYYKREILERVDGRRLVYKFGKNARGWRENEN

• Structural information:
  • Protein Domains: (29..11-)
    (/note="PNT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00762"-)
  • Interpro: IPR033071  IPR000418  IPR003118  IPR013761  IPR036388   IPR036390  
  • Prosite: PS50061 PS51433
  • STRING: ENSP00000435835
• Other Databases: GeneCards:  EHF  Malacards:  EHF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0050673	epithelial cell proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005634	nucleus	IC	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0007275	multicellular organism development	TAS	biological process
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0003677	DNA binding	TAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881