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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SHMT2
serine hydroxymethyltransferase 2
Chromosome 12 Β· 12q13.3
NCBI Gene: 6472Ensembl: ENSG00000182199.12HGNC: HGNC:10852UniProt: B4DJQ3
231PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chromatin bindingglycine hydroxymethyltransferase activityprotein bindingnucleusneurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesmicrocephalypolymicrogyriaNeurodevelopmental disorder
✦AI Summary

SHMT2 is a mitochondrial enzyme that catalyzes serine-to-glycine conversion while producing 5,10-methylenetetrahydrofolate, a critical one-carbon unit donor for cellular metabolism 12. The enzyme serves multiple essential functions: it supports purine and thymidylate biosynthesis 12, enables mitochondrial translation by methylating tRNAs at wobble positions 3, and contributes to oxidative phosphorylation through proper respiratory chain enzyme expression 3. Beyond mitochondrial roles, SHMT2 participates in the BRISC deubiquitination complex, regulating IFNAR1 signaling 1. Clinically, SHMT2 dysregulation drives multiple cancers. In lung adenocarcinoma, MAPK1-mediated phosphorylation at Ser90 stabilizes SHMT2, promoting m6A RNA methylation and oncogene expression 4. Elevated SHMT2 expression associates with poor prognosis in NSCLC through NRF2-dependent upregulation 5 and undifferentiated thyroid cancer 6. SHMT2 amplification initiates lymphoma by inducing epigenetic silencing of tumor suppressors 7. Additionally, SHMT2-driven mitochondrial serine metabolism confers 5-FU chemotherapy resistance in colorectal cancer 8 and supports Burkitt lymphoma survival by maintaining TCF3-dependent BCR signaling 9. These findings position SHMT2 inhibition as a promising therapeutic strategy across multiple malignancies.

Sources cited
1
SHMT2 catalyzes serine-to-glycine conversion producing 5,10-methylenetetrahydrofolate for purine biosynthesis and IFNAR1 deubiquitination
PMID: 24075985
2
SHMT2 produces one-carbon units essential for purine biosynthesis and serine-dependent folate metabolism
PMID: 25619277
3
SHMT2 generates mitochondrial 5,10-methylenetetrahydrofolate for tRNA methylation, enabling mitochondrial translation and oxidative phosphorylation
PMID: 29364879
4
MAPK1-mediated SHMT2 phosphorylation at Ser90 stabilizes the enzyme and regulates m6A RNA methylation in lung adenocarcinoma
PMID: 38460155
5
NRF2 regulates SHMT2 expression in NSCLC to support nucleotide synthesis and confers poor clinical prognosis
PMID: 26482881
6
High SHMT2 expression associates with low thyroid differentiation and poor clinical outcomes; SHMT2 inhibition compromises mitochondrial respiration and tumor growth
PMID: 38331894
7
SHMT2 amplification cooperates with BCL2 to initiate lymphoma through epigenetic silencing of tumor suppressors
PMID: 33569544
8
SHMT2-driven mitochondrial serine metabolism supports purine biosynthesis and confers 5-FU chemotherapy resistance in colorectal cancer
PMID: 35977477
9
SHMT2 inhibition disrupts mTOR signaling and TCF3-dependent BCR survival signaling in Burkitt lymphoma
PMID: 34624079
Disease Associationsβ“˜21
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesOpen Targets
0.77Strong
microcephalyOpen Targets
0.37Weak
polymicrogyriaOpen Targets
0.37Weak
Neurodevelopmental disorderOpen Targets
0.34Weak
genetic disorderOpen Targets
0.19Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.10Weak
gastric cancerOpen Targets
0.10Weak
oral squamous cell carcinomaOpen Targets
0.10Weak
gliomaOpen Targets
0.10Suggestive
schizophreniaOpen Targets
0.10Suggestive
thyroid cancerOpen Targets
0.09Suggestive
bladder transitional cell carcinomaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
papillary thyroid carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
asthmaOpen Targets
0.08Suggestive
autism spectrum disorderOpen Targets
0.08Suggestive
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesUniProt
Pathogenic Variants3
NM_005412.6(SHMT2):c.1495C>G (p.Pro499Ala)Likely pathogenic
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
β˜…β˜†β˜†β˜†2023β†’ Residue 499
NM_005412.6(SHMT2):c.557C>G (p.Thr186Arg)Likely pathogenic
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities|Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2020β†’ Residue 186
NM_005412.6(SHMT2):c.1135A>G (p.Asn379Asp)Likely pathogenic
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities|Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2020β†’ Residue 379
View on ClinVar β†—
Related Genes
SPTLC1Protein interaction100%BRCC3Protein interaction100%BABAM2Protein interaction100%BABAM1Protein interaction100%ABRAXAS2Protein interaction100%PAICSProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
33%
Lung
18%
Ovary
12%
Bone Marrow
12%
Heart
11%
Gene Interaction Network
Click a node to explore
SHMT2SPTLC1BRCC3BABAM2BABAM1ABRAXAS2PAICS
PROTEIN STRUCTURE
Preparing viewer…
PDB8AQL Β· 1.23 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.61 [0.47–0.79]
RankingsWhere SHMT2 stands among ~20K protein-coding genes
  • #1,748of 20,598
    Most Researched231 Β· top 10%
  • #3,926of 5,498
    Most Pathogenic Variants3
  • #6,564of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedSHMT2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Mitochondrial translation requires folate-dependent tRNA methylation.
PMID: 29364879
Nature Β· 2018
1.00
2
Phosphorylated SHMT2 Regulates Oncogenesis Through m
PMID: 38460155
Adv Sci (Weinh) Β· 2024
0.90
3
Metabolic phenotype of bladder cancer.
PMID: 26975021
Cancer Treat Rev Β· 2016
0.80
4
NRF2 regulates serine biosynthesis in non-small cell lung cancer.
PMID: 26482881
Nat Genet Β· 2015
0.70
5
SHMT2 promotes papillary thyroid cancer metastasis through epigenetic activation of AKT signaling.
PMID: 38272883
Cell Death Dis Β· 2024
0.64