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Shmt2 Gene Detail
Summary
  • Symbol
    Shmt2
  • Name
    serine hydroxymethyltransferase 2 (mitochondrial)
  • Synonyms
    2700043D08Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277989
    NCBI Gene: 108037
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:127352992-127358313 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 74.51 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    226 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277989
 protein coding gene Chr10:127352992-127358313 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017825
 protein coding gene Chr10:131137307-131142638 (-)
A/J MGP_AJ_G0017800
 protein coding gene Chr10:125885481-125890832 (-)
AKR/J MGP_AKRJ_G0017763
 protein coding gene Chr10:129597795-129603132 (-)
BALB/cJ MGP_BALBcJ_G0017764
 protein coding gene Chr10:126288026-126293701 (-)
C3H/HeJ MGP_C3HHeJ_G0017588
 protein coding gene Chr10:129751109-129757431 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018219
 protein coding gene Chr10:135578368-135584750 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015899
 protein coding gene Chr10:119871765-119877054 (-)
CAST/EiJ MGP_CASTEiJ_G0017148
 protein coding gene Chr10:130410129-130415416 (-)
CBA/J MGP_CBAJ_G0017557
 protein coding gene Chr10:141047059-141052405 (-)
DBA/2J MGP_DBA2J_G0017663
 protein coding gene Chr10:124960584-124966187 (-)
FVB/NJ MGP_FVBNJ_G0017658
 protein coding gene Chr10:123900010-123905908 (-)
LP/J MGP_LPJ_G0017737
 protein coding gene Chr10:131707725-131713999 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017686
 protein coding gene Chr10:143742288-143747642 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018259
 protein coding gene Chr10:129666428-129672316 (-)
PWK/PhJ MGP_PWKPhJ_G0016933
 protein coding gene Chr10:125166189-125171602 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016725
 protein coding gene Chr10:128705241-128713281 (-)
WSB/EiJ MGP_WSBEiJ_G0017209
 protein coding gene Chr10:129892835-129898153 (-)



Homology
more
  • Human Ortholog
    SHMT2, serine hydroxymethyltransferase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SHMT2, serine hydroxymethyltransferase 2
  • Synonyms
    GLYA, HEL-S-51e, mSHMT, NEDCASB, SHMT
  • Links
    NCBI Gene ID: 6472
    neXtProt AC: NX_P34897
    UniProt: P34897

  • Chr Location
    12q13.3; chr12:57229573-57234935 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SHMT2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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 lethlity after E13.5, decreased size, anemia and reduced MEF cellular respiration and proliferation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    73
  • GO References
    13
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
    827
  • Tissues
    32
  • cDNA Data
    14
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 108037 NCBI Gene Model | MGI Sequence Detail 5322 C57BL/6J ±  kb
    transcript NM_028230 RefSeq | MGI Sequence Detail 2305 C57BL/6  
    polypeptide Q9CZN7 UniProt | EBI | MGI Sequence Detail 504 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000014848 serine hydroxymethyltransferase, mitochondrial
      (term hierarchy)
    • EC
      2.1.2.1
    • InterPro Domains
      IPR015424 Pyridoxal phosphate-dependent transferase
      IPR015421 Pyridoxal phosphate-dependent transferase, major domain
      IPR015422 Pyridoxal phosphate-dependent transferase, small domain
      IPR001085 Serine hydroxymethyltransferase
      IPR049943 Serine hydroxymethyltransferase-like
      IPR039429 Serine hydroxymethyltransferase-like domain
      IPR019798 Serine hydroxymethyltransferase, pyridoxal phosphate binding site
    • GlyGen
      Q9CZN7 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 14
      Primer pair 5

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1919660, MGI:2143464, MGI:2143516
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 8
      Gene Ontology 13
      Phenotypes 15
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:357899 Li J, et al., Serine Hydroxymethyltransferase 2 Deficiency in the Hematopoietic System Disrupts Erythropoiesis and Induces Anemia in Murine Models. Int J Mol Sci. 2024 Oct 15;25(20)
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory