GPT2

Protein identityUniProt · HPA

UniProt accession

Q8TD30

Gene

GPT2

Ensembl

ENSG00000166123

Chromosome

16

Canonical length

523 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

523 residues, UniProt reviewed canonical sequence.

>Q8TD30|GPT2
     1  MQRAAALVRR GCGPRTPSSW GRSQSSAAAE ASAVLKVRPE RSRRERILTL ESMNPQVKAV
    61  EYAVRGPIVL KAGEIELELQ RGIKKPFTEV IRANIGDAQA MGQQPITFLR QVMALCTYPN
   121  LLDSPSFPED AKKRARRILQ ACGGNSLGSY SASQGVNCIR EDVAAYITRR DGGVPADPDN
   181  IYLTTGASDG ISTILKILVS GGGKSRTGVM IPIPQYPLYS AVISELDAIQ VNYYLDEENC
   241  WALNVNELRR AVQEAKDHCD PKVLCIINPG NPTGQVQSRK CIEDVIHFAW EEKLFLLADE
   301  VYQDNVYSPD CRFHSFKKVL YEMGPEYSSN VELASFHSTS KGYMGECGYR GGYMEVINLH
   361  PEIKGQLVKL LSVRLCPPVS GQAAMDIVVN PPVAGEESFE QFSREKESVL GNLAKKAKLT
   421  EDLFNQVPGI HCNPLQGAMY AFPRIFIPAK AVEAAQAHQM APDMFYCMKL LEETGICVVP
   481  GSGFGQREGT YHFRMTILPP VEKLKTVLQK VKDFHINFLE KYA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GPT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

252 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GPT2.

Disease | AllUniProt

Conditions GPT2 is implicated in, by any mechanism.

• Neurodevelopmental disorder with spastic paraplegia and microcephaly (NEDSPM) MIM:616281

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 146 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glutamate pyruvate transaminase 2 deficiency
• Inborn genetic diseases
• Rare genetic intellectual disability

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.7

gnomAD pLI

0

gnomAD missense Z

1.88

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 2-oxoglutarate metabolic process
• L-alanine catabolic process
• L-alanine metabolic process

Molecular functions

• L-alanine:2-oxoglutarate aminotransferase activity
• pyridoxal phosphate binding

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Aminotransferase, class I/classII, large domain
• Pyridoxal phosphate-dependent transferase, major domain
• Pyridoxal phosphate-dependent transferase, small domain
• Pyridoxal phosphate-dependent transferase
• Aminotransferase ALAT1/2-like
• Aminotransferase class I and II

KeywordsUniProt

• Acetylation
• Aminotransferase
• Intellectual disability
• Pyridoxal phosphate
• Transferase