HES7 (hes family bHLH transcription factor 7)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84667
Gene name Hes family bHLH transcription factor 7
Gene symbol HES7
Synonyms (NCBI Gene)
SCDO4bHLHb37hHes7
Chromosome 17
Chromosome location 17p13.1
Summary 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.
7
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.
1066
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608059 15977 ENSG00000179111
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spondylocostal dysostosis 2, autosomal recessive Pathogenic rs113994160 RCV002269820
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylocostal dysostosis 4, autosomal recessive Likely pathogenic; Pathogenic rs2507863332, rs113994160, rs387906978, rs387906979, rs1332109041, rs398122970 RCV004595870
RCV000034271
RCV001807738
RCV001807739
RCV000677670
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (8)
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
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS — CTD, Orphanet
CTD, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HES7-related disorder Conflicting classifications of pathogenicity; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (39)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31296175
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 18775957, 20087400
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal recessive spondylocostal dysostosis Spondylocostal Dysostosis Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) Cerebroretinal Microangiopathy With Calcifications And Cysts BEFREE 25928698
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 31461642 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital diaphragmatic hernia Congenital diaphragmatic hernia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital exomphalos Congenital Exomphalos HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital fusion of ribs Rib fusion HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital meningocele Congenital Meningocele HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only