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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
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:31831602-31856170 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 16.93 cM, cytoband A-C
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    849 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88285
 protein coding gene Chr17:31827868-31856212 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023492
 protein coding gene Chr17:31397775-31425136 (-)
A/J MGP_AJ_G0023450
 protein coding gene Chr17:30363770-30389483 (-)
AKR/J MGP_AKRJ_G0023415
 protein coding gene Chr17:30628376-30653664 (-)
BALB/cJ MGP_BALBcJ_G0023455
 protein coding gene Chr17:30455363-30479799 (-)
C3H/HeJ MGP_C3HHeJ_G0023216
 protein coding gene Chr17:31004651-31030931 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023897
 protein coding gene Chr17:32480988-32507442 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021371
 protein coding gene Chr17:27487165-27512425 (-)
CAST/EiJ MGP_CASTEiJ_G0022717
 protein coding gene Chr17:31065018-31090225 (-)
CBA/J MGP_CBAJ_G0023191
 protein coding gene Chr17:33892908-33919722 (-)
DBA/2J MGP_DBA2J_G0023321
 protein coding gene Chr17:29763583-29787997 (-)
FVB/NJ MGP_FVBNJ_G0023291
 protein coding gene Chr17:29556397-29583532 (-)
LP/J MGP_LPJ_G0023399
 protein coding gene Chr17:31624309-31648760 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023309
 protein coding gene Chr17:32979826-33012052 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023939
 protein coding gene Chr17:31001677-31027104 (-)
PWK/PhJ MGP_PWKPhJ_G0022467
 protein coding gene Chr17:28631846-28657368 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022285
 protein coding gene Chr17:28990612-29019737 (-)
WSB/EiJ MGP_WSBEiJ_G0022779
 protein coding gene Chr17:30961527-30986900 (-)



Homology
more
  • Human Ortholog
    CBS, cystathionine beta-synthase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CBS, cystathionine beta-synthase
  • Synonyms
    CBSL, HIP4
  • Links
    NCBI Gene ID: 875
    neXtProt AC: NX_P35520
    UniProt: P35520

  • Chr Location
    21q22.3; chr21:43053191-43076943 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cbs mouse models; 6 with human CBS associations

Human Disease Mouse Models
      
IDs
 View 4 models
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    102 phenotypes from 1 allele in 5 genetic backgrounds
    16 phenotypes from multigenic genotypes
    1 images
    169 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.
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
less
  • All GO Annotations
    69
  • GO References
    20
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1055
  • Tissues
    205
  • cDNA Data
    15
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12411 NCBI Gene Model | MGI Sequence Detail 24569 C57BL/6J ±  kb
    transcript NR_176933 RefSeq | MGI Sequence Detail 2476 ZRU/MplStud  
    polypeptide Q91WT9 UniProt | EBI | MGI Sequence Detail 561 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000005081 cystathionine beta-synthase
      (term hierarchy)
    • EC
      4.2.1.22
    • InterPro Domains
      IPR000644 CBS domain
      IPR046342 CBS domain superfamily
      IPR005857 Cystathionine beta-synthase
      IPR046353 Cystathionine beta-synthase, C-terminal domain
      IPR050214 Cysteine Synthase/Cystathionine Beta-Synthase
      IPR001216 Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site
      IPR001926 Tryptophan synthase beta chain-like, PALP domain
      IPR036052 Tryptophan synthase beta chain-like, PALP domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 30
      Genomic 6
      cDNA 17
      Primer pair 6
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1788, MGI:2146792, MGI:2146817
    References
    more
    • Summaries
      All 224
      Developmental Gene Expression 12
      Diseases 8
      Gene Ontology 20
      Phenotypes 169
    • 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:350419 Majtan T, et al., Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function. Redox Biol. 2024 Jul;73:103222
    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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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory