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Bhmt Gene Detail
Summary
  • Symbol
    Bhmt
  • Name
    betaine-homocysteine methyltransferase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1339972
    NCBI Gene: 12116
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:93753399-93774266 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 47.87 cM, cytoband D1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    150 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1339972
 protein coding gene Chr13:93753183-93774469 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020826
 protein coding gene Chr13:94973299-94994997 (-)
A/J MGP_AJ_G0020780
 protein coding gene Chr13:91440316-91479580 (-)
AKR/J MGP_AKRJ_G0020754
 protein coding gene Chr13:94228187-94249372 (-)
BALB/cJ MGP_BALBcJ_G0020777
 protein coding gene Chr13:92083520-92104511 (-)
C3H/HeJ MGP_C3HHeJ_G0020570
 protein coding gene Chr13:93919759-93945287 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021213
 protein coding gene Chr13:97865157-97891150 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018780
 protein coding gene Chr13:87301397-87322840 (-)
CAST/EiJ MGP_CASTEiJ_G0020089
 protein coding gene Chr13:93176828-93200314 (-)
CBA/J MGP_CBAJ_G0020529
 protein coding gene Chr13:101749422-101781116 (-)
DBA/2J MGP_DBA2J_G0020654
 protein coding gene Chr13:91228526-91250962 (-)
FVB/NJ MGP_FVBNJ_G0020634
 protein coding gene Chr13:90016756-90044877 (-)
LP/J MGP_LPJ_G0020728
 protein coding gene Chr13:95096952-95121750 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020663
 protein coding gene Chr13:102264752-102284251 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021253
 protein coding gene Chr13:93607776-93628859 (-)
PWK/PhJ MGP_PWKPhJ_G0019841
 protein coding gene Chr13:89947420-89963212 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019665
 protein coding gene Chr13:89887196-89914250 (-)
WSB/EiJ MGP_WSBEiJ_G0020146
 protein coding gene Chr13:94109004-94131508 (-)



Homology
more
  • Human Ortholog
    BHMT, betaine--homocysteine S-methyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BHMT, betaine--homocysteine S-methyltransferase
  • Synonyms
    BHMT1, HEL-S-61p
  • Links
    NCBI Gene ID: 635
    neXtProt AC: NX_Q93088
    UniProt: Q93088

  • Chr Location
    5q14.1; chr5:79111809-79132288 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human BHMT associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 2 alleles in 2 genetic backgrounds
    17 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 a knock-out allele exhibit slow postnatal weight gain, altered homocysteine, choline, and one-carbon homeostasis, fatty liver, and hepatocellular carcinomas.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • 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 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
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
    965
  • Tissues
    134
  • cDNA Data
    13
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12116 NCBI Gene Model | MGI Sequence Detail 20868 C57BL/6J ±  kb
    transcript NM_016668 RefSeq | MGI Sequence Detail 2081 Not Specified  
    polypeptide O35490 UniProt | EBI | MGI Sequence Detail 407 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 15
      Primer pair 4

      Microarray probesets 6
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 11
      Gene Ontology 7
      Phenotypes 17
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:343800 Souali-Crespo S, et al., Loss of NR5A1 in mouse Sertoli cells after sex determination changes cellular identity and induces cell death by anoikis. Development. 2023 Dec 15;150(24)
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory