DHCR7 (7-dehydrocholesterol reductase)

2013-11-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
SLOS
FUSION GENES

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166160055cholic acidChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
205412522010Common genetic determinants of vitamin D insufficiency: a genome-wide association study.465
204184852010Genome-wide association study of circulating vitamin D levels.264
249742522014Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study.93
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
214414432011Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.77
178558072007Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.36
111618312001Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.30
266851592016Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.29
221826932012DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model.28

Citation

Dessen P

DHCR7 (7-dehydrocholesterol reductase)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53560/dhcr7