DHCR7 (7-dehydrocholesterol reductase)

2013-11-01  

Identity

HGNC
DHCR7
LOCATION
11q13.4
LOCUSID
1717
ALIAS
SLOS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1717
MIM: 602858
HGNC: 2860
Ensembl: ENSG00000172893

Variants:

dbSNP: 1717
ClinVar: 1717
TCGA: ENSG00000172893
COSMIC: DHCR7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172893ENST00000355527Q9UBM7
ENSG00000172893ENST00000355527A0A024R5F7
ENSG00000172893ENST00000407721Q9UBM7
ENSG00000172893ENST00000407721A0A024R5F7
ENSG00000172893ENST00000525137H0YEJ5
ENSG00000172893ENST00000525346E9PIP9
ENSG00000172893ENST00000526780E9PJ54
ENSG00000172893ENST00000527316E9PM00
ENSG00000172893ENST00000527452E9PRL8
ENSG00000172893ENST00000529990E9PLZ2
ENSG00000172893ENST00000531364E9PQ71
ENSG00000172893ENST00000533800H0YE57
ENSG00000172893ENST00000534795H0YCS7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

Pathways

PathwaySourceExternal ID
Steroid biosynthesisKEGGko00100
Steroid biosynthesisKEGGhsa00100
Metabolic pathwaysKEGGhsa01100
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGhsa_M00101
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGM00101
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168
Cholesterol biosynthesis via desmosterolREACTOMER-HSA-6807047
Cholesterol biosynthesis via lathosterolREACTOMER-HSA-6807062

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166160055cholic acidChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
382116482024DHCR7 promotes lymph node metastasis in cervical cancer through cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT axis and VEGF-C secretion.0
384722332024Inhibition of 7-dehydrocholesterol reductase prevents hepatic ferroptosis under an active state of sterol synthesis.2
382116482024DHCR7 promotes lymph node metastasis in cervical cancer through cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT axis and VEGF-C secretion.0
384722332024Inhibition of 7-dehydrocholesterol reductase prevents hepatic ferroptosis under an active state of sterol synthesis.2
361820742023Zika virus non-structural protein 4B interacts with DHCR7 to facilitate viral infection.1
367103422023Integrated multi-dimensional analysis highlights DHCR7 mutations involving in cholesterol biosynthesis and contributing therapy of gastric cancer.5
361820742023Zika virus non-structural protein 4B interacts with DHCR7 to facilitate viral infection.1
367103422023Integrated multi-dimensional analysis highlights DHCR7 mutations involving in cholesterol biosynthesis and contributing therapy of gastric cancer.5
329382882022Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.2
361646112022High DHCR7 Expression Predicts Poor Prognosis for Cervical Cancer.4
329382882022Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.2
361646112022High DHCR7 Expression Predicts Poor Prognosis for Cervical Cancer.4
339619712021Vitamin D pathway gene polymorphisms, vitamin D level, and cytokines in children with type 1 diabetes.11
340938992021Association of Polymorphisms in Vitamin D-Metabolizing Enzymes DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic Review and Meta-Analysis.6
339619712021Vitamin D pathway gene polymorphisms, vitamin D level, and cytokines in children with type 1 diabetes.11

Citation

Dessen P

DHCR7 (7-dehydrocholesterol reductase)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53560/gene-fusions-explorer/deep-insight-explorer/case-report-explorer/