GPT2 Chromosome 16
Glutamic--pyruvic transaminase 2
Upload your DNA to see your personal genotypes for variants in GPT2.
What This Gene Does
This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
Glutamic--pyruvic transaminase family
Locus Type
gene with protein product
Location
16q11.2
Ensembl
ENSG00000166123
Associated Conditions (6)
Glutamate pyruvate transaminase 2 deficiency
GPT2-related disorder
Inborn genetic diseases
Hereditary spastic paraplegia 73
Intellectual disability
Rare genetic intellectual disability
Key Variants
RS140993544
Conflicting classifications of pathogenicity
Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
Health Risk
RS2548989725
Conflicting classifications of pathogenicity
GPT2-related disorder, Inborn genetic diseases, GPT2-related disorder
Health Risk
RS745565332
Conflicting classifications of pathogenicity
Glutamate pyruvate transaminase 2 deficiency, Hereditary spastic paraplegia 73, Glutamate pyruvate transaminase 2 deficiency
Health Risk
RS764789266
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS778445616
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS1596864597
Likely pathogenic
Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
Health Risk
RS190315044
Likely pathogenic
Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
Health Risk
RS2548953788
Likely pathogenic
Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
Health Risk
RS2548963125
Likely pathogenic
Rare genetic intellectual disability, Rare genetic intellectual disability
Health Risk
RS2548982827
Likely pathogenic
Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
Health Risk
RS2548985626
Likely pathogenic
Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
Health Risk
RS781387019
Likely pathogenic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140993544 | Health Risk | Conflicting classifications of pathogenicity | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS2548989725 | Health Risk | Conflicting classifications of pathogenicity | GPT2-related disorder, Inborn genetic diseases, GPT2-related disorder |
| RS745565332 | Health Risk | Conflicting classifications of pathogenicity | Glutamate pyruvate transaminase 2 deficiency, Hereditary spastic paraplegia 73, Glutamate pyruvate transaminase 2 deficiency |
| RS764789266 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778445616 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS1596864597 | Health Risk | Likely pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS190315044 | Health Risk | Likely pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS2548953788 | Health Risk | Likely pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS2548963125 | Health Risk | Likely pathogenic | Rare genetic intellectual disability, Rare genetic intellectual disability |
| RS2548982827 | Health Risk | Likely pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS2548985626 | Health Risk | Likely pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS781387019 | Health Risk | Likely pathogenic | — |
| RS786203999 | Health Risk | Likely pathogenic | Glutamate pyruvate transaminase 2 deficiency, Inborn genetic diseases, Glutamate pyruvate transaminase 2 deficiency |
| RS115352435 | Health Risk | Pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS1372862248 | Health Risk | Pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS1420397443 | Health Risk | Pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS1437184398 | Health Risk | Pathogenic | Inborn genetic diseases, Glutamate pyruvate transaminase 2 deficiency, Inborn genetic diseases |
| RS1961013082 | Health Risk | Pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS1961429340 | Health Risk | Pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS2548963176 | Health Risk | Pathogenic | Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency |
| RS886041649 | Health Risk | Pathogenic | — |