Gpt2 glutamic pyruvate transaminase (alanine aminotransferase) 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gpt2provided by MGI
Official Full Name: glutamic pyruvate transaminase (alanine aminotransferase) 2provided by MGI
Primary source: MGI:MGI:1915391
See related: Ensembl:ENSMUSG00000031700 AllianceGenome:MGI:1915391
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ALT2; 4631422C05Rik
Summary: Predicted to enable L-alanine:2-oxoglutarate aminotransferase activity. Predicted to be involved in 2-oxoglutarate metabolic process; L-alanine metabolic process; and gluconeogenesis. Located in mitochondrion. Is expressed in several structures, including alimentary system; musculature; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with spastic paraplegia and microcephaly. Orthologous to human GPT2 (glutamic--pyruvic transaminase 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in liver adult (RPKM 35.8), subcutaneous fat pad adult (RPKM 28.6) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C3; 8 41.61 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (86219090..86255531)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (85492576..85528902)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exosomal GPT2 derived from triple-negative breast cancer cells promotes metastasis by activating BTRC.
Title: Exosomal GPT2 derived from triple-negative breast cancer cells promotes metastasis by activating BTRC.
The delta subunit of the GABAA receptor is necessary for the GPT2-promoted breast cancer metastasis.
Title: The delta subunit of the GABA(A) receptor is necessary for the GPT2-promoted breast cancer metastasis.
Silencing alanine transaminase 2 in diabetic liver attenuates hyperglycemia by reducing gluconeogenesis from amino acids.
Title: Silencing alanine transaminase 2 in diabetic liver attenuates hyperglycemia by reducing gluconeogenesis from amino acids.
Mitochondrial enzyme GPT2 regulates metabolic mechanisms required for neuron growth and motor function in vivo.
Title: Mitochondrial enzyme GPT2 regulates metabolic mechanisms required for neuron growth and motor function in vivo.
The GPT2 gene demonstrates increasing expression in brain in the early postnatal period, and GPT2 protein localizes to mitochondria. Akin to the human phenotype, Gpt2-null mice exhibit reduced brain growth. Through metabolomics and direct isotope tracing experiments, we find a number of metabolic abnormalities associated with loss of Gpt2
Title: Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Data suggest that Alt2/Gpt2 (but not Alt1/Gpt1) is induced in liver of obese mice (male ob/ob mice compared to lean C57BL/6J mice).
Title: Hepatic ALT isoenzymes are elevated in gluconeogenic conditions including diabetes and suppressed by insulin at the protein level.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU041193 (e-PCR)
- UniSTS:159788

AU014768 (e-PCR)
- UniSTS:207241

D8Mit283 (e-PCR), detects polymorphism
- UniSTS:131495

C87201 (e-PCR)
- UniSTS:208303

RH134758 (e-PCR)
- UniSTS:218036

Gpt2 (e-PCR), detects polymorphism
- UniSTS:546805

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-alanine:2-oxoglutarate aminotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-alanine:2-oxoglutarate aminotransferase activity	ISO Inferred from Sequence Orthology more info
enables L-alanine:2-oxoglutarate aminotransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in 2-oxoglutarate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in 2-oxoglutarate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in L-alanine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in L-alanine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in L-alanine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in gluconeogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: alanine aminotransferase 2

Names: glutamate pyruvate transaminase 2; glutamic--alanine transaminase 2; glutamic--pyruvic transaminase 2

NP_776291.1

EC 2.6.1.2

XP_006530622.1

EC 2.6.1.2

XP_036009604.1

EC 2.6.1.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_173866.4 → NP_776291.1 alanine aminotransferase 2

See identical proteins and their annotated locations for NP_776291.1

Status: VALIDATED

Source sequence(s)

AC130533

Consensus CDS

CCDS22499.1

UniProtKB/Swiss-Prot

Q8BGT5, Q8BVY7, Q8K1J3

Related

ENSMUSP00000034136.6, ENSMUST00000034136.12

Conserved Domains (2) summary

cd00609
Location:123 → 512

AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...

PTZ00377
Location:48 → 522

PTZ00377; alanine aminotransferase; Provisional

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

86219090..86255531

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036153711.1 → XP_036009604.1 alanine aminotransferase 2 isoform X1

Conserved Domains (1) summary

PTZ00377
Location:5 → 379

PTZ00377; alanine aminotransferase; Provisional
XM_006530559.4 → XP_006530622.1 alanine aminotransferase 2 isoform X2

Conserved Domains (1) summary

PTZ00377
Location:39 → 290

PTZ00377; alanine aminotransferase; Provisional