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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
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:143376882-143402147 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 7, 88.33 cM, cytoband F5
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    214 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1298378
protein coding gene Chr7:143376827-143402147 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033284
protein coding gene Chr7:149159523-149179261 (+)
A/J MGP_AJ_G0033267
protein coding gene Chr7:144819903-144844445 (+)
AKR/J MGP_AKRJ_G0033198
protein coding gene Chr7:148901080-148931731 (+)
BALB/cJ MGP_BALBcJ_G0033267
protein coding gene Chr7:144622210-144640954 (+)
C3H/HeJ MGP_C3HHeJ_G0032981
protein coding gene Chr7:148658396-148686843 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033777
protein coding gene Chr7:154552246-154576535 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030750
protein coding gene Chr7:145988735-146011152 (+)
CAST/EiJ MGP_CASTEiJ_G0032304
protein coding gene Chr7:140982607-141001118 (+)
CBA/J MGP_CBAJ_G0032954
protein coding gene Chr7:159801081-159826737 (+)
DBA/2J MGP_DBA2J_G0033108
protein coding gene Chr7:142803110-142826537 (+)
FVB/NJ MGP_FVBNJ_G0033056
protein coding gene Chr7:142752277-142770783 (+)
LP/J MGP_LPJ_G0033200
protein coding gene Chr7:150702687-150721268 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033090
protein coding gene Chr7:160405612-160425623 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033795
protein coding gene Chr7:147857844-147881199 (+)
PWK/PhJ MGP_PWKPhJ_G0032014
protein coding gene Chr7:136115078-136134018 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031858
protein coding gene Chr7:134661019-134679543 (+)
WSB/EiJ MGP_WSBEiJ_G0032417
protein coding gene Chr7:148860703-148879920 (+)



Homology
more
  • Human Ortholog
    DHCR7, 7-dehydrocholesterol reductase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DHCR7, 7-dehydrocholesterol reductase
  • Synonyms
    SLOS
  • Links
    NCBI Gene ID: 1717
    neXtProt AC: NX_Q9UBM7
    UniProt: Q9UBM7

  • Chr Location
    11q13.4; chr11:71428193-71452868 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Dhcr7 mouse models; 2 with human DHCR7 associations

Human Disease Mouse Models
      
IDs
View 5 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    73 phenotypes from 6 alleles in 6 genetic backgrounds
    8 phenotypes from multigenic genotypes
    3 images
    34 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
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000058454 Ensembl Gene Model | MGI Sequence Detail 25266 C57BL/6J ±  kb
    transcript ENSMUST00000207143 Ensembl | MGI Sequence Detail 1652 Not Applicable  
    polypeptide ENSMUSP00000146947 Ensembl | MGI Sequence Detail 474 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 89
      Genomic 1
      cDNA 86
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2141819
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 6
      Diseases 5
      Gene Ontology 7
      Phenotypes 34
    • 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:329259 Tomita H, et al., 7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome. Elife. 2022 Sep 16;11:e67141

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory