HES7 gene information

HES7
Identifiers
Aliases	HES7, SCDO4, bHLHb37, hes family bHLH transcription factor 7, HES7 gene
External IDs	OMIM: 608059 MGI: 2135679 HomoloGene: 23779 GeneCards: HES7
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.1 Start 8,120,592 bp[1] End 8,124,106 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium ganglionic eminence Brodmann area 9 tibial nerve left ventricle metanephros amygdala canal of the cervix adipose tissue right lung n/a More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding protein dimerization activity transcription factor binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific transcription corepressor activity sequence-specific DNA binding sequence-specific double-stranded DNA binding Cellular component nucleus Biological process Notch signaling pathway multicellular organism development rhythmic process somitogenesis mesoderm development regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II skeletal system development post-anal tail morphogenesis transcription, DNA-templated regulation of somitogenesis negative regulation of transcription, DNA-templated cell differentiation regulation of neurogenesis anterior/posterior pattern specification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84667 84653 Ensembl ENSG00000179111 n/a UniProt Q9BYE0 Q8BKT2 RefSeq (mRNA) NM_001165967 NM_032580 NM_033041 RefSeq (protein) NP_001159439 NP_115969 NP_149030 NP_001388436 Location (UCSC) Chr 17: 8.12 – 8.12 Mb n/a PubMed search [2] [3]
Wikidata
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(HES7) or bHLHb37 is protein coding mammalian gene found on chromosome 17 in humans. HES7 is a member of the Hairy and Enhancer of Split families of Basic helix-loop-helix proteins. The gene product is a transcription factor and is expressed cyclically in the presomitic mesoderm as part of the Notch signalling pathway.^[4] HES7 is involved in the segmentation of somites from the presomitic mesoderm in vertebrates. The HES7 gene is self-regulated by a negative feedback loop in which the gene product can bind to its own promoter. This causes the gene to be expressed in an oscillatory manner. The HES7 protein also represses expression of Lunatic Fringe (LFNG)^[5] thereby both directly and indirectly regulating the Notch signalling pathway. Mutations in HES7 can result in deformities of the spine, ribs and heart. Spondylocostal dysostosis is a common disease caused by mutations in the HES7 gene. The inheritance pattern of Spondylocostal dysostosis is autosomal recessive.^[6]