GPT2 Gene (Glutamic Pyruvate Transaminase 2)
Comprehensive gene card for GPT2, encoding alanine aminotransferase 2, with links to NCBI, Ensembl, UniProt, OMIM, HGNC, COSMIC, and ClinVar.
Gene Information Card
| Symbol | GPT2 |
|---|---|
| Full Name | Glutamic pyruvate transaminase (alanine aminotransferase) 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 84706 ncbi.nlm.nih.gov/gene/84706 |
| Ensembl ID | ENSG00000166123 |
| UniProt ID | Q8TD30 |
| OMIM ID | 138210 |
| HGNC ID | 18062 |
| Aliases | ALT2, GPT 2, alanine aminotransferase 2 |
Description
The GPT2 gene encodes glutamic pyruvate transaminase 2 (also known as alanine aminotransferase 2), a mitochondrial enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. This enzyme plays a key role in amino acid metabolism and gluconeogenesis. Mutations in GPT2 are associated with autosomal recessive intellectual developmental disorder with microcephaly and spastic paraplegia (IDDMS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with microcephaly and spastic paraplegia (IDDMS) | Loss-of-function mutations in GPT2 impair alanine metabolism and mitochondrial function, leading to neurodevelopmental deficits. | OMIM #616281; ClinVar |
| Autosomal recessive intellectual disability | Biallelic GPT2 variants cause reduced enzyme activity, affecting brain development. | ClinVar; PubMed: 27040691 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 nTPM | Medium |
| Kidney | 8.7 nTPM | Medium |
| Brain | 5.1 nTPM | Low |
| Heart | 4.2 nTPM | Low |
| Skeletal muscle | 3.8 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 nTPM | Liver cancer cell line, high expression |
| HEK 293 | 6.4 nTPM | Embryonic kidney, moderate expression |
| SH-SY5Y | 4.1 nTPM | Neuroblastoma, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function; associated with IDDMS |
| c.382G>A (p.Gly128Arg) | Missense | Rare | Reduced enzyme activity; pathogenic in ClinVar |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Likely pathogenic; reported in IDDMS |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish alanine aminotransferase activity, leading to metabolic imbalance and neurodevelopmental disease.
Gain of Function (GOF)
No gain-of-function mutations reported for GPT2.
Dominant Negative (DN)
No dominant-negative mutations reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • alanine transaminase activity (GO:0004020) | • mitochondrion (GO:0005739) |
| • cellular amino acid metabolic process (GO:0006520) | • 2-oxoglutarate metabolic process (GO:0006103) |
Pathways
• Alanine metabolism (Reactome: R-HSA-71291)
• Gluconeogenesis (Reactome: R-HSA-70263)
Protein Summary
GPT2 encodes alanine aminotransferase 2 (ALT2), a 523-amino acid mitochondrial enzyme. It catalyzes the reversible conversion of alanine and 2-oxoglutarate to pyruvate and glutamate, playing a crucial role in amino acid homeostasis and gluconeogenesis. The protein is highly expressed in liver and kidney, with lower levels in brain and heart. Loss-of-function mutations cause autosomal recessive intellectual developmental disorder with microcephaly and spastic paraplegia (IDDMS).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPT2 Knockout HEK293 Cell Line | EDJ-KQ10175 | Human | 84706 | Details Get a Quote |
| ANGPT2 Knockout HEK293 Cell Line | EDC07528 | Human | 285 | Details Get a Quote |
| GPT2 Knockout A-549 Cell Line | EDJ-KQ37286 | Human | 84706 | Details Get a Quote |
| GPT2 Knockout HCT 116 Cell Line | EDJ-KQ37287 | Human | 84706 | Details Get a Quote |
| GPT2 Knockout HeLa Cell Line | EDJ-KQ37288 | Human | 84706 | Details Get a Quote |
| ANGPT2 Knockout HeLa Cell Line | EDJ-KQ52619 | Human | 285 | Details Get a Quote |
| ANGPT2 Knockout A-549 Cell Line | EDJ-KQ61098 | Human | 285 | Details Get a Quote |
| ANGPT2 Knockout HCT 116 Cell Line | EDJ-KQ69581 | Human | 285 | Details Get a Quote |
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