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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
  • Alliance
    gene page
  • 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
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 88.33 cM, cytoband F5
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    209 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 Chr7:143376825-143402147 (+)
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; chr11:71434411-71448431 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Dhcr7 mouse models; 1 with human DHCR7 associations

Human Disease Mouse Models
      
IDs
 View 5 models
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
less
  • Phenotype Summary
    72 phenotypes from 6 alleles in 6 genetic backgrounds
    8 phenotypes from multigenic genotypes
    3 images
    31 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
    32
  • GO References
    7
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
    697
  • Tissues
    14
  • cDNA Data
    86
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    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 88
      Genomic 1
      cDNA 86
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2141819
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 4
      Diseases 5
      Gene Ontology 7
      Phenotypes 31
    • 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:303316 Kanuri B, et al., Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome. J Lipid Res. 2020 Nov 22;62:100002
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/23/2021
    MGI 6.17     		The Jackson Laboratory