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FLASH GENE
Symbol SHMT2 contributors: mct - updated : 24-08-2012
HGNC name serine hydroxymethyltransferase 2 (mitochondrial)
HGNC id 10852
Location 12q13.2      Physical location : 57.623.355 - 57.628.717
Synonym name
  • serine aldolase
  • serine methylase
  • threonine aldolase
  • serine hydroxymethylase
  • glycine hydroxymethyltransferase
  • Synonym symbol(s) SHMT, GLYA
    EC.number 2.1.2.1
    DNA
    TYPE functioning gene
    STRUCTURE 5.36 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    PRIM1 12q13 primase, polypeptide 1, 49kDa NACA 12q23-q24.1 nascent-polypeptide-associated complex alpha polypeptide RODH 12q13 nascent-polypeptide-associated complex alpha polypeptide SDR-O 12q13.13 orphan short-chain dehydrogenase / reductase RODH-4 12q13.13-q13.2 microsomal NAD+-dependent retinol dehydrogenase 4 LOC390332 12 similar to sterol/retinol dehydrogenase ADMR 12q13.3-q14 adrenomedullin receptor KIAA0352 12q13.2-q15 adrenomedullin receptor TAC3 12q13-q21 tachykinin 3 (neuromedin K, neurokinin beta) MYO1A 12q13-q15 myosin IA KIAA0286 12q13.2 KIAA0286 protein NAB2 12q13.3-q14.1 NGFI-A binding protein 2 (EGR1 binding protein 2) STAT6 12q13.3-q14.1 signal transducer and activator of transcription 6, interleukin-4 induced LRP1 12q13.3 low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor) SHMT2 12q13.2 serine hydroxymethyltransferase 2 (mitochondrial) NXPH4 12q13.2 neurexophilin 4 LOC56901 12q13.2 NADH:ubiquinone oxidoreductase MLRQ subunit homolog MGC2793 12q13.2 hypothetical protein MGC2793 KIAA1002 12q13.2 Homo sapiens KIAA1002 protein (KIAA1002), mRNA. LOC338803 12q13.2 similar to RIKEN cDNA 1300003K24 INHBC 12q13.1 inhibin, beta C INHBE 12q13.2 inhibin, beta E GLI 12q13.3-q14.1 glioma-associated oncogene homolog (zinc finger protein) ARHGAP9 12q14 Rho GTPase activating protein 9 MARS 12q13.11-q14.3 methionine-tRNA synthetase DDIT3 12q13.1-q13.2 DNA-damage-inducible transcript 3 MBD6 12q13.2 methyl-CpG binding domain protein 6 DCTN2 12q13.2-q13.3 dynactin 2 (p50) KIF5A 12q13 kinesin family member 5A
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2295 - 504 - 2012 22220685
    12 - 2265 - 494 - 2012 22220685
    12 - 2256 - 483 - 2012 22220685
    12 - 2149 - 483 - 2012 22220685
    12 - 2357 - 483 - 2012 22220685
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Lymphoid/Immunespleen   highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mitochondrial import sequence
    mono polymer homomer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytoskeleton,microtubule
    text localized to mitochondrial matrix and inner membrane
    basic FUNCTION
  • serine hydroxy-methyltransferase, pyridoxal dependent
  • catalyzing 5-10 methylene THF synthesis, "one-carbone" metabolism
  • putative regulator of cell growth and proliferation
  • involved in interconversion of serine and glycine
  • low activity of SHMT1 and SHMT2 in the placenta suggesting that, unlike in the sheep, placental conversion of serine to glycine is not a major source of fetal glycine
  • SHMT1 and SHMT2 are functionally redundant in nuclear de novo thymidylate biosynthesis
  • catalyzes the transfer of a beta-carbon from serine to tetrahydrofolate to form glycine and 5,10-methylene-tetrahydrofolate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • thymidylate biosynthesis pathway, composed of SHMT2, TYMS and DHFRL1 in mitochondria
  • a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    pyridoxal phosphate
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    of SHMT2 and PSMB4 was found to be associated with poor prognosis in human cancer
    Susceptibility to neural tube defect
    Variant & Polymorphism 1420 C>T
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS