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Sc5d Gene Detail
Summary
  • Symbol
    Sc5d
  • Name
    sterol-C5-desaturase
  • Synonyms
    A830073K23Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353611
    NCBI Gene: 235293
  • Gene Overview
    MyGene.info: SC5D
Location & Maps
more
  • Sequence Map
    Chr9:42254177-42264300 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10124 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 23.57 cM, cytoband B
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    SC5D, sterol-C5-desaturase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SC5D, sterol-C5-desaturase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ERG3, S5DES, SC5DL
  • Links
    NCBI Gene ID: 6309
    neXtProt AC: NX_O75845

  • Chr Location
    11q23.3; chr11:121292679-121313410 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 5044
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SC5D
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Sc5d mouse models; 1 with human SC5D associations

Human Disease Mouse Models
       Lathosterolosis   OMIM: 607330 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 3 alleles in 3 genetic backgrounds
    8 images
    8 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.
  • All Mutations and Alleles
    5
  • Chemically induced (ENU)
    1
  • Spontaneous
    1
  • Targeted
    3
  • Incidental Mutations
Homozygous null mice died perinatally with increased lathosterol and decreased cholesterol levels. Additionaly, mutant mice presented with bone malformations of the limbs and skull.
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032018 Ensembl Gene Model | MGI Sequence Detail 10124 C57BL/6J ±  kb
transcript ENSMUST00000052725 Ensembl | MGI Sequence Detail 2249 Not Applicable  
polypeptide ENSMUSP00000057354 Ensembl | MGI Sequence Detail 299 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    162 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    cDNA 10
    Primer pair 1

    Microarray probesets 8
Other
Accession IDs
less
MGI:2441835
References
more
  • Summaries
    All 37
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 4
    Phenotypes 8
  • Earliest
    J:60316 Nishi S, et al., cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. Biochim Biophys Acta. 2000 Jan 31;1490(1-2):106-8
  • Latest
    J:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103

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
07/19/2016
MGI 6.04
The Jackson Laboratory