Property Summary

NCBI Gene PubMed Count 15
Grant Count 2
Funding $226,024
PubMed Score 22.51
PubTator Score 15.62

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9BYE0 F8VPC9 hHes7
Symbols SCDO4
bHLHb37

Gene

 Grant Application (2)

Gene RIF (10)

PMID Text
25928698 an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation
23897666 mutation of HES7 is uniquely associated with defects in vertebral, heart and neural tube formation, and this observation will help provide a discriminatory diagnostic guide in patients with SCD, as well as inform molecular genetic testing.
22744456 MESP2, HES7 and DUSP6 genes may not be involved in the etiopathogenesis of sporadic and non-syndromic CS in Chinese Han population.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
20087400 Two new missense mutations in HES7 in a family with spondylocostal dysostosis.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19423540 Observational study of gene-disease association. (HuGE Navigator)
18775957 R25W missense mutation of HES7 is causative of Spondylocostal dysostosis.

AA Sequence

MVTRDRAENRDGPKMLKPLVEKRRRDRINRSLEELRLLLLERTRDQNLRNPKLEKAEILEFAVGYLRERS      1 - 70
RVEPPGVPRSPVQDAEALASCYLSGFRECLLRLAAFAHDASPAARAQLFSALHGYLRPKPPRPKPVDPRP     71 - 140
PAPRPSLDPAAPALGPALHQRPPVHQGHPSPRCAWSPSLCSPRAGDSGAPAPLTGLLPPPPPPHRQDGAP    141 - 210
KAPLPPPPAFWRPWP                                                           211 - 225
//

Text Mined References (15)

PMID Year Title
25928698 2015 Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
23897666 2013 Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
22744456 2012 Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
20087400 2010 Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
18775957 2008 Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.
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