GOT2

Chr 16

glutamic-oxaloacetic transaminase 2

Also known as: DEE82, KAT4, KATIV, KYAT4, mitAAT

NCBI Gene: 2806ENSG00000125166UniProt: P00505

Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 82

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARModerateconsider for supplementary testing
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
12
Active trials
58
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.62
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.014
Z-score 2.84
OE 0.33 (0.19–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.39Z-score
OE missense 0.75 (0.67–0.85)
190 obs / 251.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.33 (0.19–0.62)
0≤0.351.4
Missense OE?0.75 (0.67–0.85)
0≤0.61.4
Synonymous OE?0.74
0≤1.21.6
LoF obs/exp: 7 / 21.1Missense obs/exp: 190 / 251.9Syn Z: 1.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GOT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
SymbioticUremic ToxinsGut -Microbiota

Modulation of Gut Microbiota Composition and Gut Permeability Profiles by Multispecies Synbiotic Supplementation in Hemodialysis Patients

RECRUITING
NCT07461233Phase NATungs' Taichung Metroharbour HospitalStarted 2026-05-04
Multispecies Synbiotic Supplementation
Congenital Heart Disease (CHD)

Butyric Acid Supplementation for Gut Improvement After Cardiac Surgery in Kids

NOT YET RECRUITING
NCT06882772Phase PHASE1, PHASE2University of NebraskaStarted 2026-03
2 mL SunButyrate-TGPlacebo4 mL SunButyrate-TG
Hypertension, Resistant to Conventional Therapy

Antihypertensive Mechanisms of Minocycline in Resistant Hypertension

RECRUITING
NCT06246396Phase PHASE4University of FloridaStarted 2025-01-08
Minocycline HydrochloridePlacebo
Athletic PerformanceExerciseKetosis

Endurance Trial: Ketone and Carbohydrate Supplementation

RECRUITING
NCT07792876Phase NAUniversity of Sao PauloStarted 2025-12-18
Carbohydrate beverage(R)-1,3-butanediolPre-exercise non-caloric placebo
Critical IllnessGastro Intestinal SurgeryEnteral Feeding Intolerance

Undiluted and Diluted Nutrition

NOT YET RECRUITING
NCT07352150Phase NAJohn Paul II Catholic University of LublinStarted 2026-02-02
Enteral fluidIntravenous fluid
Critical IllnessSurgeryEnteral Feeding Intolerance

Diluted and Undiluted Enteral Nutrition

NOT YET RECRUITING
NCT06516835Phase NAMedical University of LublinStarted 2025-01-02
Enteral fluidIntravenous fluid
Colo-rectal Cancer

Effect of Synbiotic Supplementation on the Prevention of Mucositis in Cancer Patients Undergoing Chemotherapy

RECRUITING
NCT06576986Phase NAFederal University of Minas GeraisStarted 2023-12-12
SymbioticMaltodextrin
Relapsing Remitting Multiple Sclerosis (RRMS)

Indole-3-PROpionic Acid Clinical Trials - Multiple Sclerosis

RECRUITING
NCT07318129Phase NAGlostrup University Hospital, CopenhagenStarted 2026-01-26
PlaceboIndole-3-propionic acid (IPA)
Alcohol Use DisorderRisk Behavior, HealthDysbiosis

Alcohol Misuse, Gut Microbial Dysbiosis and PrEP Care Continuum: Application and Efficacy of SBIRT Intervention

RECRUITING
NCT06005298Phase NAShirish S BarveStarted 2023-08-01
Screening, Brief Intervention, Referral to Treatment (SBIRT)
Alzheimer Disease (AD)

Tributyrin Treatment in Mild Alzheimer Disease: Assessment of Butyrate Effects Via the Gut-Brain

NOT YET RECRUITING
NCT06797817Phase PHASE3Universidad de AlmeriaStarted 2026-06-01
tributyrinPlacebo
Malnutrition PregnancyMalnutrition in ChildrenMalnutrition (Calorie)

Early Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories

RECRUITING
NCT07195006University of ZimbabweStarted 2025-01-27
Malnutrition in pregnancy as exposurePoor WASH living conditions as exposure
Obese Patients (BMI ≥ 30 kg/m²)AnxietyDepressive Disorder

Therapeutic Potential of a Synbiotic to Improve Mental Health in Subjects With Obesity.

RECRUITING
NCT06901739Phase NACelia BañulsStarted 2025-04-15
SynbioticPlacebo

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients