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 in Mice Using Dhcr7 (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(3)

Interactions

Dhcr7 interacts with 105 markers (Mir7-1, Mir10a, Mir10b, ...)

View All

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 Type	Results
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 Model	OTTMUSG00000025933 (Evidence)
Ensembl Gene Model	ENSMUSG00000058454 (Evidence)
Entrez Gene	13360 (Evidence)
UniGene	249342
DFCI	TC1752663, TC1689670, TC1576492
DoTS	DT.529749, DT.94315622
NIA Mouse Gene Index	U008998
EC	1.3.1.21
Consensus CDS Project	CCDS22048.1
International Mouse Knockout Project Status	Dhcr7

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025933	VEGA Gene Model | MGI Sequence Detail	25266	C57BL/6J
transcript	OTTMUST00000064174	VEGA | MGI Sequence Detail	2752	Not Applicable
polypeptide	OTTMUSP00000031831	VEGA | MGI Sequence Detail	471	Not Applicable

All sequences(76) RefSeq(16) UniProt(11)

Polymorphisms

SNPs within 2kb(214 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
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