EHF (ETS Homologous Factor)

ETS transcription factor involved in epithelial development and cancer

Gene Information Card

Symbol EHF
Full Name ETS homologous factor
Gene Type protein-coding
Chromosomal Location 11p13
NCBI Gene ID 26298 ncbi.nlm.nih.gov/gene/26298
Ensembl ID ENSG00000135318
UniProt ID Q9NZC4
OMIM ID 605439
HGNC ID 3246
Aliases ESE-3, ESE3, ETS homologous factor

Description

EHF (ETS homologous factor) is a member of the ETS family of transcription factors, characterized by a conserved ETS DNA-binding domain. It acts as a transcriptional repressor or activator, playing a critical role in epithelial cell differentiation, proliferation, and homeostasis. EHF is involved in the development of various epithelial tissues and has been implicated in several cancers, including prostate, breast, and lung cancer, where it can function as a tumor suppressor or oncogene depending on context.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Prostate cancer EHF expression is frequently lost in prostate cancer; loss promotes epithelial-mesenchymal transition and metastasis. PMID: 22902505, PMID: 25944712
Breast cancer EHF acts as a tumor suppressor; reduced expression correlates with poor prognosis and aggressive subtypes. PMID: 24803677
Lung cancer EHF is downregulated in non-small cell lung cancer; its loss contributes to invasion and migration. PMID: 26921331
Colorectal cancer EHF expression is altered; may influence Wnt/β-catenin signaling. PMID: 28263393

Expression Profile

Tissue Expression
Tissue nTPM level
Prostate 12.5 Medium
Lung 8.3 Medium
Breast 6.1 Low
Colon 5.4 Low
Skin 4.8 Low
Salivary gland 3.2 Low
Cell Line Expression
Cell Line nTPM Notes
PC-3 (prostate) 2.1 Low expression
MCF-7 (breast) 1.8 Low expression
A549 (lung) 3.5 Low expression
HCT116 (colon) 4.0 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
p.R169* Nonsense <1% Loss of function; truncation of ETS domain
p.E87K Missense <1% Unknown; may affect DNA binding
p.S124L Missense <1% Unknown; located in PNT domain
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations that truncate the ETS domain or lead to nonsense-mediated decay result in loss of transcriptional activity.

Gain of Function (GOF)

No well-characterized gain-of-function mutations reported in EHF.

Dominant Negative (DN)

Truncated isoforms lacking the transactivation domain may interfere with wild-type EHF function, but evidence is limited.

Pathways

• Epithelial-to-mesenchymal transition (EMT)
• Wnt/β-catenin signaling
• Androgen receptor signaling

Protein Summary

EHF encodes a 300-amino acid protein containing an N-terminal Pointed (PNT) domain and a C-terminal ETS DNA-binding domain. It localizes to the nucleus and binds to ETS recognition sites (GGAA/T) in target gene promoters. EHF regulates genes involved in cell adhesion, migration, and differentiation. Its expression is predominantly restricted to epithelial tissues, and loss of EHF is associated with increased invasiveness and metastatic potential in multiple cancer types.

Related Products

Product name Cat.No. Species Gene ID
EHF Knockout HEK293 Cell Line EDJ-KQ8512 Human 26298 Details Get a Quote
EHF Knockout A-549 Cell Line EDJ-KQ34640 Human 26298 Details Get a Quote
EHF Knockout HCT 116 Cell Line EDJ-KQ34641 Human 26298 Details Get a Quote
EHF Knockout HeLa Cell Line EDJ-KQ55928 Human 26298 Details Get a Quote
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