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Mthfd2 Gene Detail
Summary
  • Symbol
    Mthfd2
  • Name
    methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase
  • Synonyms
    NMDMC
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338850
    NCBI Gene: 17768
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:83282673-83302890 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 35.94 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    536 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1338850
 protein coding gene Chr6:83282673-83302926 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030928
 protein coding gene Chr6:84310464-84331184 (-)
A/J MGP_AJ_G0030897
 protein coding gene Chr6:81099740-81120234 (-)
AKR/J MGP_AKRJ_G0030825
 protein coding gene Chr6:83451467-83474768 (-)
BALB/cJ MGP_BALBcJ_G0030907
 protein coding gene Chr6:81123404-81143326 (-)
C3H/HeJ MGP_C3HHeJ_G0030803
 protein coding gene Chr6:100926141-100947512 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031367
 protein coding gene Chr6:86620683-86640860 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028553
 protein coding gene Chr6:79451830-79472381 (-)
CAST/EiJ MGP_CASTEiJ_G0030016
 protein coding gene Chr6:83458302-83485465 (-)
CBA/J MGP_CBAJ_G0030594
 protein coding gene Chr6:90034384-90056922 (-)
DBA/2J MGP_DBA2J_G0030747
 protein coding gene Chr6:80417655-80438271 (-)
FVB/NJ MGP_FVBNJ_G0030700
 protein coding gene Chr6:79623510-79643229 (-)
LP/J MGP_LPJ_G0030826
 protein coding gene Chr6:84317692-84338813 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030736
 protein coding gene Chr6:94336869-94356725 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031391
 protein coding gene Chr6:83254662-83274656 (-)
PWK/PhJ MGP_PWKPhJ_G0029731
 protein coding gene Chr6:79317577-79338586 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029559
 protein coding gene Chr6:82101277-82123130 (-)
WSB/EiJ MGP_WSBEiJ_G0030097
 protein coding gene Chr6:83691076-83713398 (-)



Homology
more
  • Human Ortholog
    MTHFD2, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MTHFD2, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
  • Synonyms
    NMDMC
  • Links
    NCBI Gene ID: 10797
    neXtProt AC: NX_P13995
    UniProt: P13995

  • Chr Location
    2p13.1; chr2:74186172-74217565 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 2 alleles in 2 genetic backgrounds
    20 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 disruptions in this gene die as embryos before E15.5.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    8
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
    925
  • Tissues
    157
  • cDNA Data
    20
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000005667 Ensembl Gene Model | MGI Sequence Detail 20218 C57BL/6J ±  kb
    transcript ENSMUST00000005810 Ensembl | MGI Sequence Detail 2085 Not Applicable  
    polypeptide ENSMUSP00000005810 Ensembl | MGI Sequence Detail 350 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000010724 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial
      (term hierarchy)
    • EC
      1.5.1.15, 1.5.1.5, 3.5.4.9
    • InterPro Domains
      IPR046346 Aminoacid dehydrogenase-like, N-terminal domain superfamily
      IPR036291 NAD(P)-binding domain superfamily
      IPR000672 Tetrahydrofolate dehydrogenase/cyclohydrolase
      IPR020630 Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      IPR020867 Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site
      IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 6
      cDNA 20
      Primer pair 6

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2141716
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 12
      Gene Ontology 8
      Phenotypes 20
    • Earliest
      J:9668 Belanger C, et al., Isolation and characterization of cDNA clones encoding the murine NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase. J Biol Chem. 1989 Mar 25;264(9):4837-43
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/05/2024
    MGI 6.24     		The Jackson Laboratory