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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CSKMT
citrate synthase lysine methyltransferase
Chromosome 11 Β· 11q12.3
NCBI Gene: 751071Ensembl: ENSG00000214756.9HGNC: HGNC:33113UniProt: A8MUP2
11PubMed Papers
10Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindinglysine N-methyltransferase activityprotein-lysine N-methyltransferase activitypeptidyl-lysine monomethylationAbnormality of the skeletal systemirritable bowel syndromesmoking initiationthyroiditis
✦AI Summary

CSKMT (citrate synthase lysine methyltransferase), also known as METTL12, is a mitochondrial S-adenosylmethionine-dependent protein-lysine methyltransferase that selectively trimethylates citrate synthase (CS) 12. The enzyme methylates CS on lysine residues located near the active site (Lys-395 and Lys-368), conducting trimethylation in a distributive rather than processive manner, introducing a single methyl group per binding event 2. CSKMT activity is regulated by metabolic cues: CS substrate oxaloacetate blocks methylation, while the reaction product S-adenosylhomocysteine strongly inhibits enzyme activity 2. The functional role of CS methylation remains partially unclear; while methylation does not directly affect CS catalytic activity in vitro, it may regulate substrate channeling within mitochondrial metabolons or influence protein-protein interactions in the tricarboxylic acid cycle 1. Notably, CSKMT has been identified as a candidate gene associated with anxiety disorder in rare variant analyses 3, suggesting potential neurobiological relevance beyond its established mitochondrial metabolic functions. Further investigation is needed to fully elucidate the clinical significance of CSKMT variants in psychiatric disorders.

Sources cited
1
CSKMT (METTL12) methylates citrate synthase on Lys-395, conducts distributive trimethylation, is inhibited by substrate oxaloacetate and product S-adenosylhomocysteine
PMID: 28887308
2
CSKMT (METTL12) methylates citrate synthase lysine-368 in mitochondrial matrix; role may involve substrate channeling or protein-protein interactions in metabolons
PMID: 28391595
3
CSKMT identified as candidate gene for anxiety disorder in exome-wide association study using UK Biobank rare variants
PMID: 38154517
4
METTL12/CSKMT identified as mitochondrial protein in proteome characterization study
PMID: 30284448
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜10
Abnormality of the skeletal systemOpen Targets
0.09Suggestive
irritable bowel syndromeOpen Targets
0.05Suggestive
smoking initiationOpen Targets
0.04Suggestive
thyroiditisOpen Targets
0.02Suggestive
frozen shoulderOpen Targets
0.02Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
EEF1AKMT2Protein interaction72%SMYD2Shared pathway25%ANTKMTShared pathway25%ATPSCKMTShared pathway25%EEF2KMTShared pathway20%KGD4Shared pathway20%
Tissue Expression6 tissues
Ovary
100%
Liver
57%
Lung
56%
Brain
49%
Heart
36%
Bone Marrow
27%
Gene Interaction Network
Click a node to explore
CSKMTEEF1AKMT2SMYD2ANTKMTATPSCKMTEEF2KMTKGD4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt A8MUP2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.86LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.32 [0.89–1.86]
RankingsWhere CSKMT stands among ~20K protein-coding genes
  • #16,718of 20,598
    Most Researched11
  • #16,898of 17,882
    Most Constrained (LOEUF)1.86
Genes detectedCSKMT
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Identification of novel rare variants for anxiety: an exome-wide association study in the UK Biobank.
PMID: 38154517
Prog Neuropsychopharmacol Biol Psychiatry Β· 2024
1.00
2
Uncovering human METTL12 as a mitochondrial methyltransferase that modulates citrate synthase activity through metabolite-sensitive lysine methylation.
PMID: 28887308
J Biol Chem Β· 2017
0.75
3
Human METTL12 is a mitochondrial methyltransferase that modifies citrate synthase.
PMID: 28391595
FEBS Lett Β· 2017
0.50
4
Sequential Fractionation Strategy Identifies Three Missing Proteins in the Mitochondrial Proteome of Commonly Used Cell Lines.
PMID: 30284448
J Proteome Res Β· 2018
0.25