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

Gene ID: 84706, updated on 8-Jul-2018
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; Vega:OTTHUMG00000132541
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
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
See GPT2 in Genome Data Viewer
Location:
16q11.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (46884380..46931297)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (46918308..46965201)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene chromosome 16 open reading frame 87 Neighboring gene creatine kinase B pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 148 Neighboring gene DnaJ heat shock protein family (Hsp40) member A2 Neighboring gene neuropilin and tolloid like 2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ37652

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-alanine:2-oxoglutarate aminotransferase activity EXP
Inferred from Experiment
more info
PubMed 
L-alanine:2-oxoglutarate aminotransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
2-oxoglutarate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
L-alanine catabolic process IEA
Inferred from Electronic Annotation
more info
 
L-alanine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular amino acid biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
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_016879279.1

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
    5001..51918
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142466.2NP_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)
    AC018845, AY029173, BE466380, DA400677
    Consensus CDS
    CCDS45478.1
    UniProtKB/Swiss-Prot
    Q8TD30
    Related
    ENSP00000413804.2, OTTHUMP00000253952, ENST00000440783.2, OTTHUMT00000430623
    Conserved Domains (1) summary
    cl27741
    Location:1423
    Aminotran_1_2; Aminotransferase class I and II
  2. NM_133443.3NP_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)
    AC018845, AY029173, BE466380, HY117879
    Consensus CDS
    CCDS10725.1
    UniProtKB/Swiss-Prot
    Q8TD30
    UniProtKB/TrEMBL
    A0A024R6R2
    Related
    ENSP00000345282.4, OTTHUMP00000163363, ENST00000340124.8, OTTHUMT00000255741
    Conserved Domains (1) summary
    cl27741
    Location:48523
    Aminotran_1_2; Aminotransferase class I and II

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    46884380..46931297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023790.1XP_016879279.1  alanine aminotransferase 2 isoform X1

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