Gene Gene information from NCBI Gene database.
Entrez ID 57801
Gene name Hes family bHLH transcription factor 4
Gene symbol HES4
Synonyms (NCBI Gene)
bHLHb42
Chromosome 1
Chromosome location 1p36.33
miRNA miRNA information provided by mirtarbase database.
319
miRTarBase ID miRNA Experiments Reference
MIRT045541 hsa-miR-149-5p CLASH 23622248
MIRT038130 hsa-miR-423-5p CLASH 23622248
MIRT038130 hsa-miR-423-5p CLASH 23622248
MIRT453155 hsa-miR-181d-3p PAR-CLIP 20371350
MIRT453154 hsa-miR-3065-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
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:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608060 24149 ENSG00000188290
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCC6
Protein name Transcription factor HES-4 (hHES4) (Class B basic helix-loop-helix protein 42) (bHLHb42) (Hairy and enhancer of split 4) (bHLH factor Hes4)
Protein function Transcriptional repressor. Binds DNA on N-box motifs: 5'-CACNAG-3' (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 35 92 Helix-loop-helix DNA-binding domain Domain
PF07527 Hairy_orange 109 148 Hairy Orange Domain
Sequence
MAADTPGKPSASPMAGAPASASRTPDKPRSAAEHRKSSKPVMEKRRRARINESLAQLKTL
ILDALRKESSRHSKLEKADILEMTVRHLRSLR
RVQVTAALSADPAVLGKYRAGFHECLAE
VNRFLAGCEGVPADVRSRLLGHLAACLR
QLGPSRRPASLSPAAPAEAPAPEVYAGRPLLP
SLGGPFPLLAPPLLPGLTRALPAAPRAGPQGPGGPWRPWLR
Sequence length 221
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Human papillomavirus infection  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
ATRIAL FIBRILLATION 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
Chromophobe Renal Cell Carcinoma Chromophobe Carcinoma BEFREE 29181054
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 29181054
★☆☆☆☆
Found in Text Mining only
Ependymoma Ependymoma BEFREE 31308481
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington Disease BEFREE 25480889
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington disease Pubtator 25480889 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 27786411
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 25480889
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma BEFREE 27786411
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma Pubtator 37882055 Associate
★☆☆☆☆
Found in Text Mining only
Sjogren's Syndrome Sjogren syndrome Pubtator 37383223 Associate
★☆☆☆☆
Found in Text Mining only