You are using an outdated browser. Please upgrade your browser to improve your experience.

Tchem
DHCR7
7-dehydrocholesterol reductase

Protein Summary
Description
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC). This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000355527
  • ENSP00000347717
  • ENSG00000172893
  • ENST00000407721
  • ENSP00000384739

Symbol
  • D7SR
  • SLOS
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
interacting protein
0.93
disease perturbation
0.83
gene perturbation
0.79
kinase perturbation
0.76
histone modification site profile
0.73


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 346.46   (req: < 5)
Gene RIFs: 56   (req: <= 3)
Antibodies: 150   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 346.46   (req: >= 5)
Gene RIFs: 56   (req: > 3)
Antibodies: 150   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 3
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Protein-Protein Interactions (116)
DHCR24
Tchem
Family:  Enzyme
Novelty:  0.00480473
Score:  0.988
Data Source:  STRINGDB
SC5D
Tbio
Family:  Enzyme
Novelty:  0.02446366
Score:  0.985
Data Source:  STRINGDB
SREBF2
Tchem
Family:  TF
Novelty:  0.00171709
Score:  0.973
Data Source:  STRINGDB
LSS
Tchem
Family:  Enzyme
Novelty:  0.00735187
Score:  0.961
Data Source:  STRINGDB
NSDHL
Tbio
Family:  Enzyme
Novelty:  0.01651408
Score:  0.953
Data Source:  STRINGDB
SOAT1
Tchem
Family:  Enzyme
Novelty:  0.00530755
Score:  0.932
Data Source:  STRINGDB
SQLE
Tchem
Family:  Enzyme
Novelty:  0.0059338
Score:  0.929
Data Source:  STRINGDB
LIPA
Tchem
Family:  Enzyme
Novelty:  0.00164907
Score:  0.927
Data Source:  STRINGDB
CYP7A1
Tchem
Family:  Enzyme
Novelty:  0.00148194
Score:  0.924
Data Source:  STRINGDB
CYP27A1
Tchem
Family:  Enzyme
Novelty:  0.00071796
Score:  0.921
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (25)
Activation of gene expression by SREBF (SREBP) (R-HSA-2426168)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 8
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Activation of gene expression by SREBF (SREBP)
Reactome
Cholesterol biosynthesis
Reactome
Cholesterol biosynthesis via desmosterol
Reactome
Cholesterol biosynthesis via lathosterol
Reactome
Metabolism
Name
Explore in Pharos
Explore in Source
Activation of gene expression by SREBF (SREBP)
Cholesterol biosynthesis
Cholesterol biosynthesis via desmosterol
Cholesterol biosynthesis via lathosterol
Metabolism
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
vitamin D measurement
11
26
28
8.1
100
vitamin D deficiency
1
1
1
95.5
1
1
0
1.2
83.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
vitamin D measurement
28
8.1
100
vitamin D deficiency
1
95.5
0
1.2
83.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
7-dehydrocholesterol reductase
VGNC:6554
451393
Macaque
7-dehydrocholesterol reductase
106993167
Mouse
MGI:1298378
13360
Rat
RGD:621769
64191
Dog
7-dehydrocholesterol reductase
VGNC:39927
483675
Species
Name
OMA
EggNOG
Inparanoid
Chimp
7-dehydrocholesterol reductase
Macaque
7-dehydrocholesterol reductase
Mouse
Rat
Dog
7-dehydrocholesterol reductase
Publication Statistics
PubMed Score 346.46
PubMed score by year
PubTator Score 197.74
PubTator score by year
loading...
Related Publications
Items per page:
0 of 0
PMID
Year
Title