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GPT2 glutamic--pyruvic transaminase 2 [ Homo sapiens (human) ]

Gene ID: 84706, updated on 5-Mar-2024

Summary

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Official Symbol
GPT2provided by HGNC
Official Full Name
glutamic--pyruvic transaminase 2provided by HGNC
Primary source
HGNC:HGNC:18062
See related
Ensembl:ENSG00000166123 MIM:138210; AllianceGenome:HGNC:18062
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALT2; GPT 2; MRT49; NEDSPM
Summary
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]
Expression
Broad expression in fat (RPKM 41.2), pancreas (RPKM 29.0) and 15 other tissues See more
Orthologs
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Genomic context

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Location:
16q11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (46884362..46931289)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (52681247..52728152)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (46918274..46965201)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene chromosome 16 open reading frame 87 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7435 Neighboring gene MPRA-validated peak2574 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46877721-46878246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46878247-46878770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10778 Neighboring gene Sharpr-MPRA regulatory region 14543 Neighboring gene creatine kinase B pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10779 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46903238-46903844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46903845-46904450 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46917671-46918263 Neighboring gene Sharpr-MPRA regulatory region 10353 Neighboring gene small nucleolar RNA, C/D box 148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46931211-46931883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:46933408-46934347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10781 Neighboring gene Sharpr-MPRA regulatory region 12922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46963495-46964034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:46964035-46964572 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46993862-46994528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:46999088-46999813 Neighboring gene DnaJ heat shock protein family (Hsp40) member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10783 Neighboring gene DNAJA2 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. [The Influence of Glutamic Pyruvate Transaminase 2 to Biological Characteristics of Acute Myeloid Leukemia Cell HL-60]. Xiang XR, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2021 Apr. PMID 33812407
  2. Abrogating GPT2 in triple-negative breast cancer inhibits tumor growth and promotes autophagy. Mitra D, et al. Int J Cancer, 2021 Apr 15. PMID 33368291
  3. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family. Binaafar S, et al. Eur J Med Genet, 2020 May. PMID 31978613
  4. GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates. Ouyang Q, et al. Hum Genet, 2019 Oct. PMID 31471722, Free PMC Article
  5. Mitochondrial GPT2 plays a pivotal role in metabolic adaptation to the perturbation of mitochondrial glutamine metabolism. Kim M, et al. Oncogene, 2019 Jun. PMID 30765862

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. SPTBN1 abrogates renal clear cell carcinoma progression via glycolysis reprogramming in a GPT2-dependent manner.
    Title: SPTBN1 abrogates renal clear cell carcinoma progression via glycolysis reprogramming in a GPT2-dependent manner.
  4. Loss of mitochondrial enzyme GPT2 causes early neurodegeneration in locus coeruleus.
    Title: Loss of mitochondrial enzyme GPT2 causes early neurodegeneration in locus coeruleus.
  5. Thyroid hormone regulates glutamine metabolism and anaplerotic fluxes by inducing mitochondrial glutamate aminotransferase GPT2.
    Title: Thyroid hormone regulates glutamine metabolism and anaplerotic fluxes by inducing mitochondrial glutamate aminotransferase GPT2.
  6. Abrogating GPT2 in triple-negative breast cancer inhibits tumor growth and promotes autophagy.
    Title: Abrogating GPT2 in triple-negative breast cancer inhibits tumor growth and promotes autophagy.
  7. [The Influence of Glutamic Pyruvate Transaminase 2 to Biological Characteristics of Acute Myeloid Leukemia Cell HL-60].
    Title: [The Influence of Glutamic Pyruvate Transaminase 2 to Biological Characteristics of Acute Myeloid Leukemia Cell HL-60].
  8. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
    Title: A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
  9. GPT2 is an important component of the adaptive metabolic response for glutamine deprivation and indicate that targeting this pathway in combination with Glutaminase inhibition may be an effective therapeutic approach for cancer treatment.
    Title: Mitochondrial GPT2 plays a pivotal role in metabolic adaptation to the perturbation of mitochondrial glutamine metabolism.
  10. Because of the consistent presence of pyramidal tract affection in GPT2 patients, we further suggest that GPT2 mutations should be considered in cases with complex hereditary spastic paraplegia
    Title: GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Glutamate pyruvate transaminase 2 deficiency
MedGen: C4225388 OMIM: 616281 GeneReviews: Not available
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Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37652

Gene Ontology Provided by GOA

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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in 2-oxoglutarate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in L-alanine catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in L-alanine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
alanine aminotransferase 2
Names
glutamate pyruvate transaminase 2
glutamic pyruvate transaminase (alanine aminotransferase) 2
glutamic pyruvate transaminase 2
glutamic--alanine transaminase 2
NP_001135938.1
NP_597700.1
XP_016879279.2
XP_047290768.1
XP_047290769.1
XP_047290770.1
XP_047290771.1
XP_047290772.1
XP_054170176.1
XP_054170177.1
XP_054170178.1
XP_054170179.1
XP_054170180.1
XP_054170181.1
XP_054170182.1

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.

Genomic

  1. NG_042110.1 RefSeqGene

    Range
    4983..51910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142466.3 → NP_001135938.1  alanine aminotransferase 2 isoform 2

    See identical proteins and their annotated locations for NP_001135938.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses alternate exons in the 5' UTR and 5' coding sequence, resulting in use of a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC007225, AC018845, AY029173, BE466380, DA400677
    Consensus CDS
    CCDS45478.1
    UniProtKB/Swiss-Prot
    Q8TD30
    Related
    ENSP00000413804.2, ENST00000440783.2
    Conserved Domains (1) summary
    cl27741
    Location:1 → 423
    Aminotran_1_2; Aminotransferase class I and II

  2. NM_133443.4 → NP_597700.1  alanine aminotransferase 2 isoform 1

    See identical proteins and their annotated locations for NP_597700.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC007225, AC018845, AY029173, BE466380, HY117879
    Consensus CDS
    CCDS10725.1
    UniProtKB/Swiss-Prot
    Q8N9E2, Q8TD30
    Related
    ENSP00000345282.4, ENST00000340124.9
    Conserved Domains (1) summary
    PTZ00377
    Location:48 → 523
    PTZ00377; alanine aminotransferase; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    46884362..46931289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434812.1 → XP_047290768.1  alanine aminotransferase 2 isoform X1

  2. XM_047434815.1 → XP_047290771.1  alanine aminotransferase 2 isoform X3

  3. XM_047434813.1 → XP_047290769.1  alanine aminotransferase 2 isoform X2

  4. XM_017023790.2 → XP_016879279.2  alanine aminotransferase 2 isoform X2

  5. XM_047434816.1 → XP_047290772.1  alanine aminotransferase 2 isoform X2

  6. XM_047434814.1 → XP_047290770.1  alanine aminotransferase 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    52681247..52728152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314201.1 → XP_054170176.1  alanine aminotransferase 2 isoform X1

  2. XM_054314203.1 → XP_054170178.1  alanine aminotransferase 2 isoform X2

  3. XM_054314205.1 → XP_054170180.1  alanine aminotransferase 2 isoform X3

  4. XM_054314202.1 → XP_054170177.1  alanine aminotransferase 2 isoform X2

  5. XM_054314206.1 → XP_054170181.1  alanine aminotransferase 2 isoform X3

  6. XM_054314207.1 → XP_054170182.1  alanine aminotransferase 2 isoform X2

  7. XM_054314204.1 → XP_054170179.1  alanine aminotransferase 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TD30.1 GenPept UniProtKB/Swiss-Prot:Q8TD30

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