GOT2

Chr 16AR

glutamic-oxaloacetic transaminase 2

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

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]

OMIMResearchGenerating clinical summary…
DNmechanismARLOEUF 0.621 OMIM phenotype
Clinical SummaryGOT2
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Gene-Disease Validity (ClinGen)
mitochondrial disease · ARModerate

Moderate evidence — consider for supplementary testing

Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.33) despite low pLI — interpret in context.
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Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.014
Z-score 2.84
OE 0.33 (0.190.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.39Z-score
OE missense 0.75 (0.670.85)
190 obs / 251.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.33 (0.190.62)
00.351.4
Missense OE?0.75 (0.670.85)
00.61.4
Synonymous OE?0.74
01.21.6
LoF obs/exp: 7 / 21.1Missense obs/exp: 190 / 251.9Syn Z: 1.93
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongGOT2-related malate-aspartate shuttle-related encephalopathyOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.74top 25%
GOF
0.4875th %ile
LOF
0.3162th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in 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

Weight GainAnemia, Iron DeficiencyBirth Weight

Egg Intervention During Pregnancy in Indonesia

ACTIVE NOT RECRUITING
NCT04694235Phase NASEAMEO Regional Centre for Food and NutritionStarted 2021-02-12
Egg intervention
Critical IllnessSurgeryEnteral Feeding Intolerance

Diluted and Undiluted Enteral Nutrition

NOT YET RECRUITING
NCT06516835Phase NAMedical University of LublinStarted 2025-01-02
Enteral fluidIntravenous fluid
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)
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
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
Heart FailureDilated Cardiomyopathy

Myocardial Telomere Recapping Study for Dilated Cardiomyopathy

ACTIVE NOT RECRUITING
NCT05837143Phase EARLY_PHASE1Shanghai East HospitalStarted 2023-03-30
JV001
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
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)
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
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
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