Gene Gene information from NCBI Gene database.
Entrez ID 26298
Gene name ETS homologous factor
Gene symbol EHF
Synonyms (NCBI Gene)
ESE3ESE3BESEJ
Chromosome 11
Chromosome location 11p13
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 carcino
miRNA miRNA information provided by mirtarbase database.
437
miRTarBase ID miRNA Experiments Reference
MIRT017515 hsa-miR-335-5p Microarray 18185580
MIRT955545 hsa-miR-1279 CLIP-seq
MIRT955546 hsa-miR-224 CLIP-seq
MIRT955547 hsa-miR-27a CLIP-seq
MIRT955548 hsa-miR-27b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 17027647
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 10644770, 17027647
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605439 3246 ENSG00000135373
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZC4
Protein name ETS homologous factor (hEHF) (ETS domain-containing transcription factor) (Epithelium-specific Ets transcription factor 3) (ESE-3)
Protein 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-activ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02198 SAM_PNT 31 115 Sterile alpha motif (SAM)/Pointed domain Domain
PF00178 Ets 208 289 Ets-domain Domain
Tissue specificity 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
MILEGGGVMNLNPGNNLLHQPPAWTDSYSTCNVSSGFFGGQWHEIHPQYWTKYQVWEWLQ
HLLDTNQLDANCIPFQEFDINGEHLCSMSLQEFTRAAGTAGQLLYSNLQHLKWNG
QCSSD
LFQSTHNVIVKTEQTEPSIMNTWKDENYLYDTNYGSTVDLLDSKTFCRAQISMTTTSHLP
VAESPDMKKEQDPPAKCHTKKHNPRGTHLWEFIRDILLNPDKNPGLIKWEDRSEGVFRFL
KSEAVAQLWGKKKNNSSMTYEKLSRAMRYYYKREILERVDGRRLVYKFG
KNARGWRENEN
Sequence length 300
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHOLECYSTITIS, ACUTE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30733283
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 18475289, 25648666
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 25648666 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17172821 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20479932, 25950810 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoid Tumor Carcinoid tumor Pubtator 28461336 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 10527851, 21855111
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 38308339 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 21855111, 26258986
★☆☆☆☆
Found in Text Mining only
Childhood asthma Asthma BEFREE 28293923
★☆☆☆☆
Found in Text Mining only