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Cbs Gene Detail
Summary
  • Symbol
    Cbs
  • Name
    cystathionine beta-synthase
  • Synonyms
    HIP4, MGC:18856, MGC:18895, MGC:37300
  • Feature Type
    protein coding gene
  • IDs
    MGI:88285
    NCBI Gene: 12411
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:31612623-31637199 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24577 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 16.93 cM, cytoband A-C
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    CBS, cystathionine-beta-synthase
  • Vertebrate Orthologs
    11
  • Human Ortholog
    CBS, cystathionine-beta-synthase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HIP4
  • Links
    NCBI Gene ID: 875
    neXtProt AC: NX_P0DN79, NX_P35520
    UniProt: P35520

  • Chr Location
    21q22.3; chr21:43053190-43076868 (-)  GRCh38.p7

  • Human Ortholog
    CBSL, cystathionine-beta-synthase like
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 102724560
    neXtProt AC: NX_P0DN79, NX_P35520
    UniProt: P0DN79

  • Chr Location
    chr21:6444868-6468606 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Cbs mouse models; 1 with human CBS 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
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    78 phenotypes from 1 allele in 4 genetic backgrounds
    16 phenotypes from multigenic genotypes
    1 images
    117 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.
Homozygous targeted mutants are severely growth retarded and die within 5 weeks of birth with enlarged multinucleate hepatocytes filled with lipid and massively elevated plasma homocysteine levels. Heterozygotes have twice normal homocysteine levels, butsurvive and breed.
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 death
cell differentiation
cell 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
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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
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000030973 VEGA Gene Model | MGI Sequence Detail 24577 C57BL/6J ±  kb
    transcript OTTMUST00000076693 VEGA | MGI Sequence Detail 2497 Not Applicable  
    polypeptide OTTMUSP00000040415 VEGA | MGI Sequence Detail 561 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      158 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 26
      Genomic 6
      cDNA 16
      Primer pair 3
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1788, MGI:2146792, MGI:2146817
    References
    more
    • Summaries
      All 164
      Developmental Gene Expression 9
      Diseases 7
      Gene Ontology 18
      Phenotypes 117
    • Earliest
      J:20084 Kraus JP, et al., Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci U S A. 1986 Apr;83(7):2047-51
    • Latest
      J:262380 Watson-Scales S, et al., Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration. PLoS Genet. 2018 May;14(5):e1007383

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory