HES7 (hes family bHLH transcription factor 7)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84667
Gene name Gene Name - the full gene name approved by the HGNC.
Hes family bHLH transcription factor 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HES7
Synonyms (NCBI Gene) Gene synonyms aliases
SCDO4, bHLHb37, hHes7
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct pattern
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs113994160 G>A Pathogenic Coding sequence variant, missense variant
rs200833034 C>G,T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs387906978 C>A Pathogenic Coding sequence variant, missense variant
rs387906979 T>C Pathogenic Coding sequence variant, missense variant
rs398122970 ->GTTTGGGGCG Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1066)
miRTarBase ID miRNA Experiments Reference
MIRT541222 hsa-miR-5582-3p HITS-CLIP 23706177
MIRT508352 hsa-miR-605-5p HITS-CLIP 23706177
MIRT482754 hsa-miR-4463 HITS-CLIP 23706177
MIRT508350 hsa-miR-5586-5p HITS-CLIP 23706177
MIRT482753 hsa-miR-6849-3p HITS-CLIP 23706177
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608059 15977 ENSG00000179111
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BYE0
Protein name Transcription factor HES-7 (hHes7) (Class B basic helix-loop-helix protein 37) (bHLHb37) (Hairy and enhancer of split 7) (bHLH factor Hes7)
Protein function Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 14 → 69 Helix-loop-helix DNA-binding domain Domain
Sequence 
MVTRDRAENRDGPKMLKPLVEKRRRDRINRSLEELRLLLLERTRDQNLRNPKLEKAEILE
FAVGYLRERSRVEPPGVPRSPVQDAEALASCYLSGFRECLLRLAAFAHDASPAARAQLFS
ALHGYLRPKPPRPKPVDPRPPAPRPSLDPAAPALGPALHQRPPVHQGHPSPRCAWSPSLC
SPRAGDSGAPAPLTGLLPPPPPPHRQDGAPKAPLPPPPAFWRPWP
Sequence length 225
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Human papillomavirus infection  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spondylocostal Dysostosis spondylocostal dysostosis 4, autosomal recessive rs113994160, rs387906978, rs387906979, rs398122970, rs1332109041 N/A
spondylocostal dysostosis Spondylocostal dysostosis 2, autosomal recessive rs113994160 N/A
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31296175
Congenital Abnormalities Associate 31461642
Jarcho Levin syndrome Associate 31461642
Neoplasm Metastasis Associate 37882055
Osteosarcoma Associate 37882055