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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

HCOP human homology predictions: DHCR7
Protein SuperFamily: sterol reductase, SR-2 type
Gene Tree: Dhcr7

Human
homologs
DHCR7, 7-dehydrocholesterol reductase
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1717
neXtProt AC: NX_Q9UBM7

Human Synonyms: SLOS

Human Chr (Location): 11q13.4; chr11:71434411-71448431 (-)  GRCh38.p2

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 , CvDC )
 
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 in Mice Using Dhcr7 (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(3)
Interactions
Dhcr7 interacts with 104 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase dhcr7    NEW 
Molecular
reagents
All nucleic(86) Genomic(1) cDNA(84) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000025933 (Evidence)
Ensembl Gene Model ENSMUSG00000058454 (Evidence)
Entrez Gene 13360 (Evidence)
UniGene 249342
DFCI TC1689670, TC1576492, TC1752663
DoTS DT.529749, DT.94315622
NIA Mouse Gene Index U008998
EC 1.3.1.21
Consensus CDS Project CCDS22048.1
International Mouse Phenotyping Consortium Status Dhcr7
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025933 VEGA Gene Model | MGI Sequence Detail 25266 C57BL/6J ±  kb
transcript OTTMUST00000063934 VEGA | MGI Sequence Detail 2556 Not Applicable 
polypeptide OTTMUSP00000031694 VEGA | MGI Sequence Detail 471 Not Applicable 

For the selected sequences
All sequences(69) RefSeq(14) UniProt(6)
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(55)
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
06/30/2015
MGI 5.22
The Jackson Laboratory