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Dhcr7 Gene Detail
Summary
  • Symbol
    Dhcr7
  • Name
    7-dehydrocholesterol reductase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1298378
    NCBI Gene: 13360
  • Gene Overview
    MyGene.info: DHCR7
Location & Maps
more
  • Sequence Map
    Chr7:143823145-143848410 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      25266 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 88.33 cM, cytoband F5
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DHCR7, 7-dehydrocholesterol reductase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DHCR7, 7-dehydrocholesterol reductase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    SLOS
  • Links
    NCBI Gene ID: 1717
    neXtProt AC: NX_Q9UBM7
    UniProt: Q9UBM7

  • Chr Location
    11q13.4; chr11:71434411-71448431 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Dhcr7 mouse models; 1 with human DHCR7 associations

Human Disease Mouse Models
      
IDs
 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 3 alleles in 3 genetic backgrounds
    8 phenotypes from multigenic genotypes
    3 images
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    31
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    25
  • Tissues
    14
  • cDNA Data
    84
  • Literature Summary
    4
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025933 VEGA Gene Model | MGI Sequence Detail 25266 C57BL/6J ±  kb
transcript OTTMUST00000146974 VEGA | MGI Sequence Detail 1652 Not Applicable  
polypeptide OTTMUSP00000076463 VEGA | MGI Sequence Detail 474 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    214 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 86
    Genomic 1
    cDNA 84
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGI:2141819
References
more
  • Summaries
    All 55
    Developmental Gene Expression 4
    Diseases 4
    Gene Ontology 7
    Phenotypes 26
  • 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:229485 Blassberg R, et al., Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. Hum Mol Genet. 2016 Feb 15;25(4):693-705
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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Send questions and comments to User Support. 		last database update
06/13/2017
MGI 6.10 		The Jackson Laboratory