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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FAHD2B
fumarylacetoacetate hydrolase domain containing 2B
Chromosome 2 Β· 2q11.2
NCBI Gene: 151313Ensembl: ENSG00000144199.13HGNC: HGNC:25318UniProt: A0ABB0MVM4
9PubMed Papers
12Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingoxaloacetate tautomerase activityoxaloacetate metabolic processmitochondrionschizophreniaacute lymphoblastic leukemiabipolar disordercancer
✦AI Summary

Based on limited published evidence, FAHD2B is a mitochondrial tautomerase that converts enol-oxaloacetate to its physiological keto form of oxaloacetate 1. This enzymatic activity prevents succinate dehydrogenase inhibition, thereby maximizing aerobic respiration efficiency 1. FAHD2B belongs to the fumarylacetoacetate hydrolase domain-containing protein family, whose members carry out diverse enzymatic reactions 2. The protein localizes to mitochondria and participates in oxaloacetate metabolism through its tautomerase activity.

Sources cited
1
FAHD2B functions as a tautomerase converting enol-oxaloacetate to keto-oxaloacetate, preventing succinate dehydrogenase inhibition and maximizing aerobic respiration
PMID: 38287013
2
FAH domain-containing proteins (including FAHD2B) carry out diverse enzymatic reactions with functions related to FAH domain structural differences
PMID: 25575590
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜12
schizophreniaOpen Targets
0.04Suggestive
acute lymphoblastic leukemiaOpen Targets
0.00Suggestive
bipolar disorderOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
depressive disorderOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
FAHD1Shared pathway100%FAHD2AProtein interaction83%HGDProtein interaction73%NIT2Shared pathway50%MDH1BShared pathway25%MDH1Shared pathway14%
Tissue Expression6 tissues
Ovary
100%
Brain
75%
Heart
57%
Lung
26%
Liver
24%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
FAHD2BFAHD1FAHD2AHGDNIT2MDH1BMDH1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q6P2I3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.57–1.10]
RankingsWhere FAHD2B stands among ~20K protein-coding genes
  • #17,325of 20,598
    Most Researched9
  • #11,238of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedFAHD2B
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Identification of FAH domain-containing protein 1 (FAHD1) as oxaloacetate decarboxylase.
PMID: 25575590
J Biol Chem Β· 2015
1.00