HES7 (hes family bHLH transcription factor 7)

2007-04-01 Affiliation

Identity

HGNC

HES7

LOCATION

17p13.1

LOCUSID

84667

ALIAS

SCDO4,bHLHb37

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000179111	ENST00000317814	Q9BYE0
ENSG00000179111	ENST00000541682	Q9BYE0
ENSG00000179111	ENST00000577735	J3KSH6

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
18775957	2008	Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.	35
20087400	2010	Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.	22
19423540	2009	Common variation in genes related to innate immunity and risk of adult glioma.	19
20406964	2010	Risk of meningioma and common variation in genes related to innate immunity.	12
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.	11
23897666	2013	Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.	6
20438785	2010	Polymorphisms in innate immunity genes and risk of childhood leukemia.	5
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.	4
22744456	2012	Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.	1

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/hes7