GOT2 (glutamic-oxaloacetic transaminase 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GOT2 (glutamic-oxaloacetic transaminase 2) Homo sapiens
Analyze
Symbol: GOT2
Name: glutamic-oxaloacetic transaminase 2
RGD ID: 734091
HGNC Page HGNC:4433
Description: Enables L-aspartate:2-oxoglutarate aminotransferase activity. Involved in aspartate catabolic process; fatty acid transport; and response to ethanol. Located in mitochondrion and plasma membrane. Implicated in developmental and epileptic encephalopathy 82.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: aspartate aminotransferase 2; aspartate aminotransferase, mitochondrial; aspartate transaminase 2; DEE82; FABP-1; FABPpm; fatty acid-binding protein; FLJ40994; glutamate oxaloacetate transaminase 2; glutamic-oxaloacetic transaminase 2, mitochondrial; glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2); KAT4; KATIV; KYAT4; kynurenine aminotransferase 4; kynurenine aminotransferase IV; kynurenine--oxoglutarate transaminase 4; kynurenine--oxoglutarate transaminase IV; mAspAT; mitAAT; plasma membrane-associated fatty acid-binding protein; transaminase A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GOT2P1   GOT2P2   GOT2P3   GOT2P4   GOT2P5   GOT2P6   GOT2P7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381658,707,131 - 58,734,316 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1658,707,131 - 58,734,342 (-)EnsemblGRCh38hg38GRCh38
GRCh371658,741,035 - 58,768,220 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361657,298,536 - 57,325,747 (-)NCBINCBI36Build 36hg18NCBI36
Build 341657,298,537 - 57,325,641NCBI
Celera1643,241,839 - 43,268,969 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1644,606,528 - 44,633,785 (-)NCBIHuRef
CHM1_11660,147,934 - 60,175,160 (-)NCBICHM1_1
T2T-CHM13v2.01664,499,639 - 64,526,824 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
Allylamine  (ISO)
alpha-pinene  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
aniline  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benazepril  (ISO)
benzatropine  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (EXP)
chlordecone  (ISO)
cisplatin  (ISO)
clomipramine  (ISO)
clozapine  (EXP,ISO)
cobalt dichloride  (EXP)
Cuprizon  (EXP)
cyclosporin A  (ISO)
cypermethrin  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethyl maleate  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
febuxostat  (ISO)
fenofibrate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
genistein  (EXP)
gentamycin  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
haloperidol  (EXP,ISO)
hydrazine  (ISO)
hydroxyurea  (ISO)
imipramine  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
ketoconazole  (ISO)
lead diacetate  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
methamphetamine  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
niclosamide  (EXP)
nitrofen  (ISO)
ozone  (EXP)
p-toluidine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
permethrin  (ISO)
pirinixic acid  (ISO)
Propiverine  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulfur dioxide  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
topiramate  (ISO)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zearalenone  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Evidence that stimulation of gluconeogenesis by fatty acid is mediated through thermodynamic mechanisms. Berry MN, etal., FEBS Lett. 1988 Apr 11;231(1):19-24.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Structure, expression, and function of kynurenine aminotransferases in human and rodent brains. Han Q, etal., Cell Mol Life Sci. 2010 Feb;67(3):353-68. doi: 10.1007/s00018-009-0166-4. Epub 2009 Oct 15.
4. Dose-dependent effect of sulfur dioxide on brain damage induced by recurrent febrile seizures in rats. Han Y, etal., Neurosci Lett. 2014 Mar 20;563:149-54. doi: 10.1016/j.neulet.2013.12.042. Epub 2013 Dec 25.
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. Neuronal and astrocytic shuttle mechanisms for cytosolic-mitochondrial transfer of reducing equivalents: current evidence and pharmacological tools. McKenna MC, etal., Biochem Pharmacol. 2006 Feb 14;71(4):399-407. Epub 2005 Dec 20.
7. Differential Neuroproteomic and Systems Biology Analysis of Spinal Cord Injury. Moghieb A, etal., Mol Cell Proteomics. 2016 Jul;15(7):2379-95. doi: 10.1074/mcp.M116.058115. Epub 2016 May 5.
8. Cisplatin binding and inactivation of mitochondrial glutamate oxaloacetate transaminase in cisplatin-induced rat nephrotoxicity. Ozaki T, etal., Biosci Biotechnol Biochem. 2013;77(8):1645-9. doi: 10.1271/bbb.130172. Epub 2013 Aug 7.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Fatty acid transport proteins chronically relocate to the transverse-tubules in muscle from obese Zucker rats but are resistant to further insulin-induced translocation. Stefanyk LE, etal., Metabolism. 2013 Sep;62(9):1296-304. doi: 10.1016/j.metabol.2013.04.015. Epub 2013 Jun 3.
14. Effects of sulfur dioxide on hypoxic pulmonary vascular structural remodeling. Sun Y, etal., Lab Invest. 2010 Jan;90(1):68-82. Epub 2009 Oct 12.
15. Proteomic analysis for early neurodegenerative biomarker detection in an animal model. Vincenzetti S, etal., Biochimie. 2016 Feb;121:79-86. doi: 10.1016/j.biochi.2015.11.026. Epub 2015 Nov 26.
16. A combined metabonomic and proteomic approach identifies frontal cortex changes in a chronic phencyclidine rat model in relation to human schizophrenia brain pathology. Wesseling H, etal., Neuropsychopharmacology. 2013 Nov;38(12):2532-44. doi: 10.1038/npp.2013.160. Epub 2013 Jul 3.
17. Effects of heme oxygenase-1-modified bone marrow mesenchymal stem cells on microcirculation and energy metabolism following liver transplantation. Yang L, etal., World J Gastroenterol. 2017 May 21;23(19):3449-3467. doi: 10.3748/wjg.v23.i19.3449.
18. NAD+/NADH and NADP+/NADPH in cellular functions and cell death: regulation and biological consequences. Ying W Antioxid Redox Signal. 2008 Feb;10(2):179-206.
Additional References at PubMed
PMID:376500   PMID:752471   PMID:2182221   PMID:2567216   PMID:2731362   PMID:2777255   PMID:2899080   PMID:3207426   PMID:3997814   PMID:4052435   PMID:5450376   PMID:6397370  
PMID:6930651   PMID:7114792   PMID:7225087   PMID:7559589   PMID:8125298   PMID:8349677   PMID:9537447   PMID:12477932   PMID:12601813   PMID:14702039   PMID:15489334   PMID:16169070  
PMID:16212419   PMID:17353931   PMID:17442055   PMID:17728674   PMID:17877759   PMID:19305408   PMID:19834535   PMID:20360068   PMID:20458337   PMID:20833797   PMID:20877624   PMID:21081666  
PMID:21223598   PMID:21319273   PMID:21873635   PMID:21900206   PMID:21998747   PMID:22681889   PMID:22713574   PMID:23376485   PMID:23533145   PMID:24711643   PMID:24816252   PMID:24937540  
PMID:24981860   PMID:25192599   PMID:25755250   PMID:25921289   PMID:26344197   PMID:26641092   PMID:26791191   PMID:27499296   PMID:27609421   PMID:28183455   PMID:28302793   PMID:28330616  
PMID:28918286   PMID:29467282   PMID:29507755   PMID:29564676   PMID:29666362   PMID:29715546   PMID:29845934   PMID:29884807   PMID:30554943   PMID:30575818   PMID:30714292   PMID:30948266  
PMID:30975701   PMID:30993423   PMID:31422819   PMID:31536960   PMID:31950832   PMID:31980649   PMID:32499446   PMID:32941674   PMID:33545068   PMID:33762435   PMID:34077306   PMID:35008187  
PMID:35013556   PMID:35253629   PMID:35509820   PMID:35530310   PMID:35562734   PMID:35676659   PMID:35831314  


Genomics

Comparative Map Data
GOT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381658,707,131 - 58,734,316 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1658,707,131 - 58,734,342 (-)EnsemblGRCh38hg38GRCh38
GRCh371658,741,035 - 58,768,220 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361657,298,536 - 57,325,747 (-)NCBINCBI36Build 36hg18NCBI36
Build 341657,298,537 - 57,325,641NCBI
Celera1643,241,839 - 43,268,969 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1644,606,528 - 44,633,785 (-)NCBIHuRef
CHM1_11660,147,934 - 60,175,160 (-)NCBICHM1_1
T2T-CHM13v2.01664,499,639 - 64,526,824 (-)NCBIT2T-CHM13v2.0
Got2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39896,590,761 - 96,615,029 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl896,590,762 - 96,615,175 (-)EnsemblGRCm39 Ensembl
GRCm38895,864,133 - 95,888,401 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl895,864,134 - 95,888,547 (-)EnsemblGRCm38mm10GRCm38
MGSCv37898,388,037 - 98,412,265 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36898,753,266 - 98,777,494 (-)NCBIMGSCv36mm8
Celera8100,174,831 - 100,199,164 (-)NCBICelera
Cytogenetic Map8D1NCBI
cM Map847.79NCBI
Got2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2199,174,304 - 9,199,995 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl199,174,311 - 9,199,994 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx199,143,186 - 9,168,707 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0199,910,004 - 9,935,525 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0199,196,308 - 9,221,830 (+)NCBIRnor_WKY
Rnor_6.0199,587,637 - 9,613,323 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl199,587,653 - 9,613,340 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0199,572,757 - 9,598,443 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4199,629,687 - 9,655,336 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1199,634,512 - 9,660,162 (+)NCBI
Celera199,072,871 - 9,098,515 (+)NCBICelera
RH 3.4 Map1972.43RGD
Cytogenetic Map19p13NCBI
Got2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543316,122,824 - 16,145,113 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543316,121,795 - 16,145,129 (-)NCBIChiLan1.0ChiLan1.0
GOT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11658,120,781 - 58,147,378 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1658,120,781 - 58,147,378 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01638,995,770 - 39,022,750 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
GOT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1257,968,833 - 57,994,219 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl257,968,833 - 57,994,218 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha254,600,250 - 54,625,432 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0258,509,907 - 58,535,139 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl258,509,974 - 58,535,138 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1255,357,609 - 55,362,222 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0256,341,620 - 56,366,972 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0257,239,528 - 57,264,732 (+)NCBIUU_Cfam_GSD_1.0
GOT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl620,407,200 - 20,432,067 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1620,407,203 - 20,431,849 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2618,502,171 - 18,527,683 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GOT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1544,645,721 - 44,670,917 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl544,645,602 - 44,670,918 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604731,493,979 - 31,519,503 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Got2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474627,558,005 - 27,586,257 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474627,557,994 - 27,586,257 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GOT2
42 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1358
Count of miRNA genes:788
Interacting mature miRNAs:910
Transcripts:ENST00000245206, ENST00000434819, ENST00000492378, ENST00000494627, ENST00000496461, ENST00000564400, ENST00000568368
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
GDB:451676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,111,323 - 173,111,490UniSTSGRCh37
Build 361171,377,946 - 171,378,113RGDNCBI36
Celera1146,220,787 - 146,220,954RGD
Cytogenetic Map16q21UniSTS
Cytogenetic Map1q25.1UniSTS
HuRef1144,336,066 - 144,336,233UniSTS
D16S427E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371658,741,277 - 58,741,351UniSTSGRCh37
Build 361657,298,778 - 57,298,852RGDNCBI36
Celera1643,242,081 - 43,242,155RGD
Cytogenetic Map16q21UniSTS
HuRef1644,606,770 - 44,606,844UniSTS
D16S2550E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371658,741,105 - 58,741,226UniSTSGRCh37
Build 361657,298,606 - 57,298,727RGDNCBI36
Celera1643,241,909 - 43,242,030RGD
Cytogenetic Map16q21UniSTS
HuRef1644,606,598 - 44,606,719UniSTS
D16S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371658,741,712 - 58,741,803UniSTSGRCh37
Build 361657,299,213 - 57,299,304RGDNCBI36
Celera1643,242,516 - 43,242,607RGD
Cytogenetic Map16q21UniSTS
HuRef1644,607,205 - 44,607,296UniSTS
TNG Radiation Hybrid Map1624158.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2439 2617 1726 624 1591 465 4357 2177 3692 419 1460 1613 175 1 1203 2788 6 2
Low 374 360 20 42 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000245206   ⟹   ENSP00000245206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1658,707,131 - 58,734,316 (-)Ensembl
RefSeq Acc Id: ENST00000434819   ⟹   ENSP00000394100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1658,707,818 - 58,734,326 (-)Ensembl
RefSeq Acc Id: ENST00000492378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1658,721,645 - 58,734,335 (-)Ensembl
RefSeq Acc Id: ENST00000494627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1658,709,049 - 58,716,383 (-)Ensembl
RefSeq Acc Id: ENST00000496461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1658,718,217 - 58,734,302 (-)Ensembl
RefSeq Acc Id: ENST00000564400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1658,716,013 - 58,734,342 (-)Ensembl
RefSeq Acc Id: ENST00000568368   ⟹   ENSP00000456205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1658,718,570 - 58,734,316 (-)Ensembl
RefSeq Acc Id: NM_001286220   ⟹   NP_001273149
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381658,707,131 - 58,734,316 (-)NCBI
HuRef1644,606,528 - 44,633,800 (-)NCBI
CHM1_11660,147,934 - 60,175,175 (-)NCBI
T2T-CHM13v2.01664,499,639 - 64,526,824 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002080   ⟹   NP_002071
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381658,707,131 - 58,734,316 (-)NCBI
GRCh371658,741,035 - 58,768,246 (-)ENTREZGENE
GRCh371658,741,035 - 58,768,246 (-)NCBI
Build 361657,298,536 - 57,325,747 (-)NCBI Archive
HuRef1644,606,528 - 44,633,800 (-)NCBI
CHM1_11660,147,934 - 60,175,175 (-)NCBI
T2T-CHM13v2.01664,499,639 - 64,526,824 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002071   ⟸   NM_002080
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BWA3 (UniProtKB/Swiss-Prot),   P00505 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273149   ⟸   NM_001286220
- Peptide Label: isoform 2 precursor
- UniProtKB: P00505 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000245206   ⟸   ENST00000245206
RefSeq Acc Id: ENSP00000394100   ⟸   ENST00000434819
RefSeq Acc Id: ENSP00000456205   ⟸   ENST00000568368
Protein Domains
Aminotran_1_2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00505-F1-model_v2 AlphaFold P00505 1-430 view protein structure

Promoters
RGD ID:6793163
Promoter ID:HG_KWN:23951
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002080,   OTTHUMT00000258290,   OTTHUMT00000258291
Position:
Human AssemblyChrPosition (strand)Source
Build 361657,325,306 - 57,325,827 (-)MPROMDB
RGD ID:6852444
Promoter ID:EP74031
Type:multiple initiation site
Name:HS_GOT2
Description:Glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate 2)notransferase 2).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361657,325,682 - 57,325,742EPD
RGD ID:7232401
Promoter ID:EPDNEW_H21947
Type:initiation region
Name:GOT2_1
Description:glutamic-oxaloacetic transaminase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381658,734,316 - 58,734,376EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2
pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1
pathogenic
NM_002080.3(GOT2):c.967G>A (p.Gly323Arg) single nucleotide variant Malignant melanoma [RCV000063070] Chr16:58716066 [GRCh38]
Chr16:58749970 [GRCh37]
Chr16:57307471 [NCBI36]
Chr16:16q21
not provided
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 copy number loss See cases [RCV000133738] Chr16:55457477..63841622 [GRCh38]
Chr16:55491389..63875526 [GRCh37]
Chr16:54048890..62433027 [NCBI36]
Chr16:16q12.2-21
pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Ductal breast carcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2
likely pathogenic|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1 copy number loss not provided [RCV000683823] Chr16:56950941..60203590 [GRCh37]
Chr16:16q13-21
likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21
pathogenic
NM_002080.4(GOT2):c.460G>A (p.Asp154Asn) single nucleotide variant not provided [RCV000962413] Chr16:58718664 [GRCh38]
Chr16:58752568 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.816C>T (p.Cys272=) single nucleotide variant Developmental and epileptic encephalopathy, 82 [RCV001703314]|not provided [RCV002077167] Chr16:58716700 [GRCh38]
Chr16:58750604 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.1178G>A (p.Arg393Gln) single nucleotide variant not provided [RCV000923949] Chr16:58708286 [GRCh38]
Chr16:58742190 [GRCh37]
Chr16:16q21
likely benign
NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del) microsatellite Developmental and epileptic encephalopathy, 82 [RCV000984860]|Early infantile epileptic encephalopathy with suppression bursts [RCV000851525] Chr16:58718272..58718274 [GRCh38]
Chr16:58752176..58752178 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly) single nucleotide variant Developmental and epileptic encephalopathy, 82 [RCV000984857]|Early infantile epileptic encephalopathy with suppression bursts [RCV000851526] Chr16:58716024 [GRCh38]
Chr16:58749928 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) single nucleotide variant Developmental and epileptic encephalopathy, 82 [RCV000984858]|Early infantile epileptic encephalopathy with suppression bursts [RCV000851527] Chr16:58716732 [GRCh38]
Chr16:58750636 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) single nucleotide variant Developmental and epileptic encephalopathy, 82 [RCV000984859]|Early infantile epileptic encephalopathy with suppression bursts [RCV000851528] Chr16:58709490 [GRCh38]
Chr16:58743394 [GRCh37]
Chr16:16q21
pathogenic|likely pathogenic
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21
uncertain significance
NM_002080.4(GOT2):c.1171-8C>G single nucleotide variant not provided [RCV000909907] Chr16:58708301 [GRCh38]
Chr16:58742205 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.1248C>T (p.Ser416=) single nucleotide variant not provided [RCV000909250] Chr16:58708216 [GRCh38]
Chr16:58742120 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.354C>T (p.Ser118=) single nucleotide variant not provided [RCV000957441] Chr16:58722171 [GRCh38]
Chr16:58756075 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.213T>C (p.Asn71=) single nucleotide variant Developmental and epileptic encephalopathy, 82 [RCV001702198]|not provided [RCV002073302] Chr16:58723779 [GRCh38]
Chr16:58757683 [GRCh37]
Chr16:16q21
benign
GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1 copy number loss not provided [RCV001259855] Chr16:57292407..59103985 [GRCh37]
Chr16:16q13-21
uncertain significance
NM_002080.4(GOT2):c.1037T>G (p.Val346Gly) single nucleotide variant Developmental and epileptic encephalopathy, 82 [RCV001702043]|not provided [RCV002077166] Chr16:58709550 [GRCh38]
Chr16:58743454 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.228T>G (p.Val76=) single nucleotide variant Developmental and epileptic encephalopathy, 82 [RCV001702044]|not provided [RCV002073301] Chr16:58723764 [GRCh38]
Chr16:58757668 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.1115A>G (p.Gln372Arg) single nucleotide variant not provided [RCV001910502] Chr16:58709472 [GRCh38]
Chr16:58743376 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.893C>T (p.Ala298Val) single nucleotide variant not provided [RCV001894691] Chr16:58716140 [GRCh38]
Chr16:58750044 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.226G>A (p.Val76Ile) single nucleotide variant not provided [RCV001987332] Chr16:58723766 [GRCh38]
Chr16:58757670 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.850T>C (p.Tyr284His) single nucleotide variant not provided [RCV001908826] Chr16:58716666 [GRCh38]
Chr16:58750570 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.589G>A (p.Asp197Asn) single nucleotide variant not provided [RCV001891197] Chr16:58718535 [GRCh38]
Chr16:58752439 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.974G>A (p.Arg325Gln) single nucleotide variant not provided [RCV001867359] Chr16:58716059 [GRCh38]
Chr16:58749963 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.202C>T (p.Arg68Trp) single nucleotide variant not provided [RCV002019423] Chr16:58723790 [GRCh38]
Chr16:58757694 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.662C>T (p.Pro221Leu) single nucleotide variant not provided [RCV001877140] Chr16:58718236 [GRCh38]
Chr16:58752140 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.893C>G (p.Ala298Gly) single nucleotide variant not provided [RCV001940013] Chr16:58716140 [GRCh38]
Chr16:58750044 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.719C>T (p.Ala240Val) single nucleotide variant not provided [RCV001935716] Chr16:58716797 [GRCh38]
Chr16:58750701 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.1082A>G (p.Asn361Ser) single nucleotide variant not provided [RCV001898206] Chr16:58709505 [GRCh38]
Chr16:58743409 [GRCh37]
Chr16:16q21
uncertain significance
NM_002080.4(GOT2):c.1020-15A>G single nucleotide variant not provided [RCV002145496] Chr16:58709582 [GRCh38]
Chr16:58743486 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.657G>A (p.Val219=) single nucleotide variant not provided [RCV002073519] Chr16:58718241 [GRCh38]
Chr16:58752145 [GRCh37]
Chr16:16q21
likely benign
NM_002080.4(GOT2):c.201C>T (p.Tyr67=) single nucleotide variant not provided [RCV002127283] Chr16:58723791 [GRCh38]
Chr16:58757695 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.4G>T (p.Ala2Ser) single nucleotide variant not provided [RCV002147696] Chr16:58734225 [GRCh38]
Chr16:58768129 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.351C>T (p.Asn117=) single nucleotide variant not provided [RCV002129788] Chr16:58722174 [GRCh38]
Chr16:58756078 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.703-9C>T single nucleotide variant not provided [RCV002071405] Chr16:58716822 [GRCh38]
Chr16:58750726 [GRCh37]
Chr16:16q21
likely benign
NM_002080.4(GOT2):c.597+18G>A single nucleotide variant not provided [RCV002208264] Chr16:58718509 [GRCh38]
Chr16:58752413 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.665G>A (p.Arg222His) single nucleotide variant not provided [RCV002128279] Chr16:58718233 [GRCh38]
Chr16:58752137 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.1125C>T (p.Thr375=) single nucleotide variant not provided [RCV002078878] Chr16:58709462 [GRCh38]
Chr16:58743366 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.47C>G (p.Ala16Gly) single nucleotide variant not provided [RCV002127804] Chr16:58734182 [GRCh38]
Chr16:58768086 [GRCh37]
Chr16:16q21
likely benign
NM_002080.4(GOT2):c.89+5G>A single nucleotide variant not provided [RCV002131664] Chr16:58734135 [GRCh38]
Chr16:58768039 [GRCh37]
Chr16:16q21
likely benign
NM_002080.4(GOT2):c.435+3G>A single nucleotide variant not provided [RCV002190872] Chr16:58719193 [GRCh38]
Chr16:58753097 [GRCh37]
Chr16:16q21
likely benign
NM_002080.4(GOT2):c.702+19C>G single nucleotide variant not provided [RCV002116165] Chr16:58718177 [GRCh38]
Chr16:58752081 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.435+17C>G single nucleotide variant not provided [RCV002115108] Chr16:58719179 [GRCh38]
Chr16:58753083 [GRCh37]
Chr16:16q21
likely benign
NM_002080.4(GOT2):c.562G>A (p.Gly188Ser) single nucleotide variant not provided [RCV002192923] Chr16:58718562 [GRCh38]
Chr16:58752466 [GRCh37]
Chr16:16q21
benign
NM_002080.4(GOT2):c.1177C>T (p.Arg393Trp) single nucleotide variant not provided [RCV002153183] Chr16:58708287 [GRCh38]
Chr16:58742191 [GRCh37]
Chr16:16q21
likely benign
NM_002080.4(GOT2):c.853+16C>T single nucleotide variant not provided [RCV002142220] Chr16:58716647 [GRCh38]
Chr16:58750551 [GRCh37]
Chr16:16q21
benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NM_002080.4(GOT2):c.1180C>T (p.Leu394=) single nucleotide variant not provided [RCV002220603] Chr16:58708284 [GRCh38]
Chr16:58742188 [GRCh37]
Chr16:16q21
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4433 AgrOrtholog
COSMIC GOT2 COSMIC
Ensembl Genes ENSG00000125166 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000245206 ENTREZGENE
  ENSP00000245206.5 UniProtKB/Swiss-Prot
  ENSP00000394100 ENTREZGENE
  ENSP00000394100.2 UniProtKB/Swiss-Prot
  ENSP00000456205.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000245206 ENTREZGENE
  ENST00000245206.10 UniProtKB/Swiss-Prot
  ENST00000434819 ENTREZGENE
  ENST00000434819.2 UniProtKB/Swiss-Prot
  ENST00000568368.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125166 GTEx
HGNC ID HGNC:4433 ENTREZGENE
Human Proteome Map GOT2 Human Proteome Map
InterPro Aminotransferase_I/II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NHTrfase_class1_PyrdxlP-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2806 UniProtKB/Swiss-Prot
NCBI Gene 2806 ENTREZGENE
OMIM 138150 OMIM
  618721 OMIM
PANTHER PTHR11879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aminotran_1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28818 PharmGKB
PRINTS TRANSAMINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRANSFER_CLASS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R6W0_HUMAN UniProtKB/TrEMBL
  AATM_HUMAN UniProtKB/Swiss-Prot
  H3BRE7_HUMAN UniProtKB/TrEMBL
  P00505 ENTREZGENE
  Q9BWA3 ENTREZGENE
UniProt Secondary B4DJA6 UniProtKB/Swiss-Prot
  E7ERW2 UniProtKB/Swiss-Prot
  Q53FL3 UniProtKB/Swiss-Prot
  Q9BWA3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 GOT2  glutamic-oxaloacetic transaminase 2    glutamic-oxaloacetic transaminase 2, mitochondrial  Symbol and/or name change 5135510 APPROVED
2013-06-04 GOT2  glutamic-oxaloacetic transaminase 2, mitochondrial    glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)  Symbol and/or name change 5135510 APPROVED