HES7 (hes family bHLH transcription factor 7)

2007-04-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
SCDO4,bHLHb37

Other Information

Locus ID:

NCBI: 84667
MIM: 608059
HGNC: 15977
Ensembl: ENSG00000179111

Variants:

dbSNP: 84667
ClinVar: 84667
TCGA: ENSG00000179111
COSMIC: HES7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179111ENST00000317814Q9BYE0
ENSG00000179111ENST00000541682Q9BYE0
ENSG00000179111ENST00000577735J3KSH6

Expression (GTEx)

0
1
2
3
4
5
6
7

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
329435192020Species-specific segmentation clock periods are due to differential biochemical reaction speeds.92
329435192020Species-specific segmentation clock periods are due to differential biochemical reaction speeds.92
259286982015Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.11
259286982015Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.11
238976662013Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.13
238976662013Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.13
227444562012Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.1
227444562012Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.1
200874002010Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.33
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
200874002010Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.33
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12

Citation

Dessen P

HES7 (hes family bHLH transcription factor 7)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47219/js/lib/gene-fusions-explorer/favicon/favicon-32x32.png