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Dhcr7
Gene Detail
Symbol

Name
ID
Dhcr7
7-dehydrocholesterol reductase
MGI:1298378
Feature Type
protein coding gene
Genetic Map
Chromosome 7
88.33 cM, cytoband F5
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:143823145-143848410 bp, + strand
From VEGA annotation of GRCm38

  25266 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1042  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: sterol reductase, SR-2 type
Gene Tree: Dhcr7

Human
homologs
Human Homolog DHCR7, 7-dehydrocholesterol reductase
NCBI Gene ID 1717
neXtProt AC  NX_Q9UBM7
Human Synonyms  SLOS
Human Chr (Location)  11q13.4; chr11:71434411-71448431 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human DHCR7
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(3) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruptions in this gene die within one day of birth due to respiratory and suckling problems. They exhibit abnormal cholesterol homeostasis with reduced tissue cholesterol levels and total sterol levels, enlarged bladders and sometimes cleft palate.
 
Human Diseases Modeled Using Mouse Dhcr7 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)
Interactions
Dhcr7 interacts with 105 markers (Mir7-1, Mir10a, Mir10b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process blood vessel development, cell differentiation, ...
Component endoplasmic reticulum, integral component of membrane, ...
Function 7-dehydrocholesterol reductase activity, oxidoreductase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (25)    Tissues (14)    Images (14)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 25
cDNA source data(84)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(86) Genomic(1) cDNA(84) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000025933 (Evidence)
Ensembl Gene ModelENSMUSG00000058454 (Evidence)
Entrez Gene13360 (Evidence)
UniGene249342
DFCITC1752663, TC1689670, TC1576492
DoTSDT.529749, DT.94315622
NIA Mouse Gene IndexU008998
EC1.3.1.21
Consensus CDS ProjectCCDS22048.1
International Mouse Knockout Project StatusDhcr7
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025933 VEGA Gene Model | MGI Sequence Detail 25266 C57BL/6J ±  kb
transcript OTTMUST00000064174 VEGA | MGI Sequence Detail 2752 Not Applicable 
polypeptide OTTMUSP00000031831 VEGA | MGI Sequence Detail 471 Not Applicable 

For the selected sequences
All sequences(76) RefSeq(16) UniProt(11)
Polymorphisms
SNPs within 2kb(214 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001171 Ergosterol biosynthesis ERG4/ERG24
InterPro IPR018083 Sterol reductase, conserved site
Protein Ontology PR:000006454 7-dehydrocholesterol reductase
References
(Earliest) J:48735 Fitzky BU, et al., Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8181-6
(Latest) J:207841 Liu W, et al., A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. J Lipid Res. 2014 Feb;55(2):329-37
All references(56)
Disease annotation references (4)
Other
accession IDs
MGI:2141819

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory