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

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See GPT2 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001142466.3NP_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:1423
      Aminotran_1_2; Aminotransferase class I and II
    2. NM_133443.4NP_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:48523
      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_047434812.1XP_047290768.1  alanine aminotransferase 2 isoform X1

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

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

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

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

    6. XM_047434814.1XP_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_054314201.1XP_054170176.1  alanine aminotransferase 2 isoform X1

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

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

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

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

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

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