GOT2

Chr 16AR

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]

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 82MIM #618721
AR
12
Active trials
0
Pathogenic / LP
0
ClinVar variants
6
Pubs (1 yr)
1.4
Missense Z
0.62
LOEUF
Clinical Summary— GOT2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.33) despite low pLI — interpret in context.
💊
Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.62LOEUF
pLI 0.014
Z-score 2.84
OE 0.33 (0.19–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.39Z-score
OE missense 0.75 (0.67–0.85)
190 obs / 251.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.33 (0.19–0.62)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.75 (0.67–0.85)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.74
0≤1.21.6
LoF obs/exp: 7 / 21.1Missense obs/exp: 190 / 251.9Syn Z: 1.93
DN
0.74top 25%
GOF
0.4875th %ile
LOF
0.3162th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

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

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.

Gene2Phenotype Curations

GOT2-related malate-aspartate shuttle-related encephalopathy

strong
ARUndeterminedAltered Gene Product Structure
Dev. Disorders
G2P ↗
missense variantinframe deletioninframe insertion

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
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
Hypertension, Resistant to Conventional Therapy

Antihypertensive Mechanisms of Minocycline in Resistant Hypertension

RECRUITING
NCT06246396Phase PHASE4University of FloridaStarted 2025-01-08
Minocycline HydrochloridePlacebo
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
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
SymbioticUremic ToxinsGut -Microbiota

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

NOT YET RECRUITING
NCT07461233Phase NATungs' Taichung Metroharbour HospitalStarted 2026-04-01
Multispecies Synbiotic Supplementation
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)
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
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
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
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
Heart FailureDilated Cardiomyopathy

Myocardial Telomere Recapping Study for Dilated Cardiomyopathy

ACTIVE NOT RECRUITING
NCT05837143Phase EARLY_PHASE1Shanghai East HospitalStarted 2023-03-30
JV001
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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