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

    Gene ID: 84706, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See GPT2 in Genome Data Viewer
    Location:
    16q11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (46884362..46931289)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (52681247..52728152)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. 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
    2. A comparison of associations of alanine aminotransferase and gamma-glutamyltransferase with fasting glucose, fasting insulin, and glycated hemoglobin in women with and without diabetes. Fraser A, et al. Hepatology, 2007 Jul. PMID 17596883
    3. 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
    4. 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
    5. [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

    See all (53) 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 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
    		  
    located_in mitochondrion HTP PubMed 

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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