GOT2 glutamic-oxaloacetic transaminase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GOT2provided by HGNC
Official Full Name: glutamic-oxaloacetic transaminase 2provided by HGNC
Primary source: HGNC:HGNC:4433
See related: Ensembl:ENSG00000125166 MIM:138150; AllianceGenome:HGNC:4433
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: KAT4; DEE82; KATIV; KYAT4; mitAAT
Summary: Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Expression: Broad expression in heart (RPKM 129.5), liver (RPKM 91.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q21

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (58707131..58734316, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (64499639..64526824, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (58741035..58768220, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Low expression of GOT2 promotes tumor progress and predicts poor prognosis in hepatocellular carcinoma.
Title: Low expression of GOT2 promotes tumor progress and predicts poor prognosis in hepatocellular carcinoma.
Surgical resection of lung cancer inhibits mRNA expression of GOT2 gene encoding kynurenine aminotransferase in leukocytes.
Title: Surgical resection of lung cancer inhibits mRNA expression of GOT2 gene encoding kynurenine aminotransferase in leukocytes.
GOT2 Silencing Promotes Reprogramming of Glutamine Metabolism and Sensitizes Hepatocellular Carcinoma to Glutaminase Inhibitors.
Title: GOT2 Silencing Promotes Reprogramming of Glutamine Metabolism and Sensitizes Hepatocellular Carcinoma to Glutaminase Inhibitors.
Circular RNA circ_0003028 contributes to tumorigenesis by regulating GOT2 via miR-1298-5p in non-small cell lung cancer.
Title: Circular RNA circ_0003028 contributes to tumorigenesis by regulating GOT2 via miR-1298-5p in non-small cell lung cancer.
High circ-SEC31A expression predicts unfavorable prognoses in non-small cell lung cancer by regulating the miR-520a-5p/GOT-2 axis.
Title: High circ-SEC31A expression predicts unfavorable prognoses in non-small cell lung cancer by regulating the miR-520a-5p/GOT-2 axis.
Polymorphisms of rs7204324 on GOT2 may play an important role in susceptibility to liver injury following exposure to N,N-dimethylformamide .
Title: Association between CYP2E1 and GOT2 gene polymorphisms and susceptibility and low-dose N,N-dimethylformamide occupational exposure-induced liver injury.
data provide a mechanistic basis for the biochemical abnormalities in GOT2 deficiency that may also hold for other MAS defects
Title: Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
BRCA1 forms a co-repressor complex with ZBRK1 that coordinately represses GOT2 expression via a ZBRK1 recognition element in the promoter of GOT2.
Title: Preventing BRCA1/ZBRK1 repressor complex binding to the GOT2 promoter results in accelerated aspartate biosynthesis and promotion of cell proliferation.
Study utilizing integrative analysis of transcriptomic, metabolomic, and clinical data propose a model of GOT2 transcriptional regulation, in which the cooperative phosphorylation of STAT3 and direct joint binding of STAT3 and p65/NF-kappaB to the proximal GOT2 promoter are important. Furthermore, high aberrant GOT2 expression is prognostic in diffuse large B-cell lymphoma.
Title: Cooperative STAT/NF-κB signaling regulates lymphoma metabolic reprogramming and aberrant GOT2 expression.
The results of our study on this larger than 5800-patient cohort suggest beneficial effects of high B12 vitamin level, negative effects of high sodium levels or high AST (aspartate aminotransferase) liver enzyme levels to cognition.
Title: Identifying combinatorial biomarkers by association rule mining in the CAMD Alzheimer's database.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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
Developmental and epileptic encephalopathy, 82 MedGen: C5231473 OMIM: 618721 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at ten loci influence QT interval duration in the QTGEN Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S427E (e-PCR)
- UniSTS:147457

D16S3316 (e-PCR)
- UniSTS:16130

GDB:451676 (e-PCR)
- UniSTS:99153

D16S2550E (e-PCR)
- UniSTS:151639

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-aspartate:2-oxoglutarate aminotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-aspartate:2-oxoglutarate aminotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-aspartate:2-oxoglutarate aminotransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables RNA binding	HDA more info	PubMed
enables kynurenine-oxoglutarate transaminase activity	IEA Inferred from Electronic Annotation more info
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in 2-oxoglutarate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in 4-hydroxyproline catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in aspartate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in aspartate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in aspartate catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in aspartate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid transport	IEP Inferred from Expression Pattern more info	PubMed
involved_in glutamate catabolic process to aspartate	IEA Inferred from Electronic Annotation more info
involved_in glutamate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in malate-aspartate shuttle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oxaloacetate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: aspartate aminotransferase, mitochondrial

Names: FABP-1; FABPpm; aspartate aminotransferase 2; aspartate transaminase 2; fatty acid-binding protein; glutamate oxaloacetate transaminase 2; glutamic-oxaloacetic transaminase 2, mitochondrial; kynurenine aminotransferase 4; kynurenine aminotransferase IV; kynurenine--oxoglutarate transaminase 4; kynurenine--oxoglutarate transaminase IV; mAspAT; plasma membrane-associated fatty acid-binding protein; transaminase A

NP_001273149.1

EC 2.6.1.1

EC 2.6.1.7

NP_002071.2

EC 2.6.1.1

EC 2.6.1.7

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_001286220.2 → NP_001273149.1 aspartate aminotransferase, mitochondrial isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC012183, AK295993, BC000525, DB485399

Consensus CDS

CCDS67045.1

UniProtKB/TrEMBL

A8K482

Related

ENSP00000394100.2, ENST00000434819.2

Conserved Domains (2) summary

pfam00155
Location:57 → 382

Aminotran_1_2; Aminotransferase class I and II

cl18945
Location:32 → 387

AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
NM_002080.4 → NP_002071.2 aspartate aminotransferase, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_002071.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC012183, BC000525, DB485399

Consensus CDS

CCDS10801.1

UniProtKB/Swiss-Prot

B4DJA6, E7ERW2, P00505, Q53FL3, Q9BWA3

UniProtKB/TrEMBL

A8K482

Related

ENSP00000245206.5, ENST00000245206.10

Conserved Domains (2) summary

PLN02397
Location:32 → 430

PLN02397; aspartate transaminase

pfam00155
Location:57 → 425

Aminotran_1_2; Aminotransferase class I and II