Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	84706
Gene name	Glutamic--pyruvic transaminase 2
Gene symbol	GPT2
Synonyms (NCBI Gene)	ALT2GPT 2MRT49NEDSPM
Chromosome	16
Chromosome location	16q11.2
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 ac

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SNP ID	Visualize variation	Clinical significance	Consequence
rs115352435	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs786203999	C>G	Pathogenic	Coding sequence variant, missense variant
rs886041649	G>T	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1437184398	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained

175

Show/Hide all (175)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020600	hsa-miR-155-5p	Proteomics	18668040
MIRT028719	hsa-miR-27a-3p	Sequencing	20371350
MIRT044565	hsa-miR-320a	CLASH	23622248
MIRT035805	hsa-miR-1909-5p	CLASH	23622248
MIRT718052	hsa-miR-4738-5p	HITS-CLIP	19536157
MIRT718051	hsa-miR-6741-3p	HITS-CLIP	19536157
MIRT718050	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT718048	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT718049	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT718047	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT513032	hsa-miR-4783-3p	PAR-CLIP	23446348
MIRT513031	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT513030	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT513029	hsa-miR-5093	PAR-CLIP	23446348
MIRT513028	hsa-miR-6762-3p	PAR-CLIP	23446348
MIRT513027	hsa-miR-3190-3p	PAR-CLIP	23446348
MIRT513025	hsa-miR-3911	PAR-CLIP	23446348
MIRT513026	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT513024	hsa-miR-6833-5p	PAR-CLIP	23446348
MIRT718052	hsa-miR-4738-5p	HITS-CLIP	19536157
MIRT718051	hsa-miR-6741-3p	HITS-CLIP	19536157
MIRT718050	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT718048	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT718049	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT718047	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT513032	hsa-miR-4783-3p	PAR-CLIP	23446348
MIRT513031	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT513030	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT513029	hsa-miR-5093	PAR-CLIP	23446348
MIRT513028	hsa-miR-6762-3p	PAR-CLIP	23446348
MIRT513027	hsa-miR-3190-3p	PAR-CLIP	23446348
MIRT513025	hsa-miR-3911	PAR-CLIP	23446348
MIRT513026	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT513024	hsa-miR-6833-5p	PAR-CLIP	23446348
MIRT1032410	hsa-miR-1228	CLIP-seq
MIRT1032411	hsa-miR-1229	CLIP-seq
MIRT1032412	hsa-miR-124	CLIP-seq
MIRT1032413	hsa-miR-1254	CLIP-seq
MIRT1032414	hsa-miR-125a-3p	CLIP-seq
MIRT1032415	hsa-miR-1266	CLIP-seq
MIRT1032416	hsa-miR-2681	CLIP-seq
MIRT1032417	hsa-miR-27a	CLIP-seq
MIRT1032418	hsa-miR-27b	CLIP-seq
MIRT1032419	hsa-miR-30a	CLIP-seq
MIRT1032420	hsa-miR-30b	CLIP-seq
MIRT1032421	hsa-miR-30c	CLIP-seq
MIRT1032422	hsa-miR-30d	CLIP-seq
MIRT1032423	hsa-miR-30e	CLIP-seq
MIRT1032424	hsa-miR-3116	CLIP-seq
MIRT1032425	hsa-miR-3158-3p	CLIP-seq
MIRT1032426	hsa-miR-3180-5p	CLIP-seq
MIRT1032427	hsa-miR-323-5p	CLIP-seq
MIRT1032428	hsa-miR-338-3p	CLIP-seq
MIRT1032429	hsa-miR-3613-5p	CLIP-seq
MIRT1032430	hsa-miR-3646	CLIP-seq
MIRT1032431	hsa-miR-3664-3p	CLIP-seq
MIRT1032432	hsa-miR-377	CLIP-seq
MIRT1032433	hsa-miR-3918	CLIP-seq
MIRT1032434	hsa-miR-3934	CLIP-seq
MIRT1032435	hsa-miR-3977	CLIP-seq
MIRT1032436	hsa-miR-423-3p	CLIP-seq
MIRT1032437	hsa-miR-4269	CLIP-seq
MIRT1032438	hsa-miR-4496	CLIP-seq
MIRT1032439	hsa-miR-4512	CLIP-seq
MIRT1032440	hsa-miR-4518	CLIP-seq
MIRT1032441	hsa-miR-4520a-3p	CLIP-seq
MIRT1032442	hsa-miR-4520b-3p	CLIP-seq
MIRT1032443	hsa-miR-4529-3p	CLIP-seq
MIRT1032444	hsa-miR-4530	CLIP-seq
MIRT1032445	hsa-miR-488	CLIP-seq
MIRT1032446	hsa-miR-494	CLIP-seq
MIRT1032447	hsa-miR-506	CLIP-seq
MIRT1032448	hsa-miR-513a-3p	CLIP-seq
MIRT1032449	hsa-miR-513a-5p	CLIP-seq
MIRT1032450	hsa-miR-548an	CLIP-seq
MIRT1032451	hsa-miR-549	CLIP-seq
MIRT1032452	hsa-miR-550a	CLIP-seq
MIRT1032453	hsa-miR-604	CLIP-seq
MIRT1032454	hsa-miR-647	CLIP-seq
MIRT1032455	hsa-miR-661	CLIP-seq
MIRT1032456	hsa-miR-764	CLIP-seq
MIRT1032457	hsa-miR-876-3p	CLIP-seq
MIRT1032458	hsa-miR-922	CLIP-seq
MIRT1032426	hsa-miR-3180-5p	CLIP-seq
MIRT1032459	hsa-miR-329	CLIP-seq
MIRT1032460	hsa-miR-362-3p	CLIP-seq
MIRT1032430	hsa-miR-3646	CLIP-seq
MIRT1032461	hsa-miR-4676-5p	CLIP-seq
MIRT1032462	hsa-miR-4773	CLIP-seq
MIRT1032445	hsa-miR-488	CLIP-seq
MIRT1032463	hsa-miR-520a-5p	CLIP-seq
MIRT1032464	hsa-miR-525-5p	CLIP-seq
MIRT1032465	hsa-miR-548p	CLIP-seq
MIRT1032466	hsa-miR-575	CLIP-seq
MIRT2006263	hsa-miR-1184	CLIP-seq
MIRT2006264	hsa-miR-1205	CLIP-seq
MIRT1032410	hsa-miR-1228	CLIP-seq
MIRT1032412	hsa-miR-124	CLIP-seq
MIRT2006265	hsa-miR-1290	CLIP-seq
MIRT2006266	hsa-miR-130a	CLIP-seq
MIRT2006267	hsa-miR-130b	CLIP-seq
MIRT2006268	hsa-miR-136	CLIP-seq
MIRT2006269	hsa-miR-221	CLIP-seq
MIRT2006270	hsa-miR-222	CLIP-seq
MIRT2006271	hsa-miR-301a	CLIP-seq
MIRT2006272	hsa-miR-301b	CLIP-seq
MIRT2006273	hsa-miR-3064-3p	CLIP-seq
MIRT2006274	hsa-miR-3065-3p	CLIP-seq
MIRT1032419	hsa-miR-30a	CLIP-seq
MIRT1032420	hsa-miR-30b	CLIP-seq
MIRT1032421	hsa-miR-30c	CLIP-seq
MIRT1032422	hsa-miR-30d	CLIP-seq
MIRT1032423	hsa-miR-30e	CLIP-seq
MIRT2006275	hsa-miR-3158-5p	CLIP-seq
MIRT2006276	hsa-miR-3167	CLIP-seq
MIRT1032426	hsa-miR-3180-5p	CLIP-seq
MIRT2006277	hsa-miR-3190	CLIP-seq
MIRT1032459	hsa-miR-329	CLIP-seq
MIRT1032428	hsa-miR-338-3p	CLIP-seq
MIRT1032460	hsa-miR-362-3p	CLIP-seq
MIRT2006278	hsa-miR-3666	CLIP-seq
MIRT1032432	hsa-miR-377	CLIP-seq
MIRT2006279	hsa-miR-3922-5p	CLIP-seq
MIRT2006280	hsa-miR-3941	CLIP-seq
MIRT1032435	hsa-miR-3977	CLIP-seq
MIRT2006281	hsa-miR-4293	CLIP-seq
MIRT2006282	hsa-miR-4295	CLIP-seq
MIRT1032444	hsa-miR-4530	CLIP-seq
MIRT2006283	hsa-miR-454	CLIP-seq
MIRT2006284	hsa-miR-4691-5p	CLIP-seq
MIRT1032445	hsa-miR-488	CLIP-seq
MIRT1032447	hsa-miR-506	CLIP-seq
MIRT1032448	hsa-miR-513a-3p	CLIP-seq
MIRT2006285	hsa-miR-515-5p	CLIP-seq
MIRT2006286	hsa-miR-519a	CLIP-seq
MIRT2006287	hsa-miR-519b-3p	CLIP-seq
MIRT2006288	hsa-miR-519c-3p	CLIP-seq
MIRT2006289	hsa-miR-548v	CLIP-seq
MIRT2006290	hsa-miR-603	CLIP-seq
MIRT2006291	hsa-miR-759	CLIP-seq
MIRT2006292	hsa-miR-767-3p	CLIP-seq
MIRT2006293	hsa-miR-876-5p	CLIP-seq
MIRT1032458	hsa-miR-922	CLIP-seq
MIRT1032412	hsa-miR-124	CLIP-seq
MIRT2006279	hsa-miR-3922-5p	CLIP-seq
MIRT1032447	hsa-miR-506	CLIP-seq
MIRT2006285	hsa-miR-515-5p	CLIP-seq
MIRT2006266	hsa-miR-130a	CLIP-seq
MIRT2006267	hsa-miR-130b	CLIP-seq
MIRT2006271	hsa-miR-301a	CLIP-seq
MIRT2006272	hsa-miR-301b	CLIP-seq
MIRT1032426	hsa-miR-3180-5p	CLIP-seq
MIRT2006278	hsa-miR-3666	CLIP-seq
MIRT2006282	hsa-miR-4295	CLIP-seq
MIRT2006283	hsa-miR-454	CLIP-seq
MIRT2006285	hsa-miR-515-5p	CLIP-seq
MIRT2450681	hsa-miR-3199	CLIP-seq
MIRT2450682	hsa-miR-4292	CLIP-seq
MIRT2450683	hsa-miR-4725-5p	CLIP-seq
MIRT2450684	hsa-miR-504	CLIP-seq
MIRT2542633	hsa-miR-105	CLIP-seq
MIRT1032417	hsa-miR-27a	CLIP-seq
MIRT1032418	hsa-miR-27b	CLIP-seq
MIRT2542634	hsa-miR-3691-3p	CLIP-seq
MIRT1032449	hsa-miR-513a-5p	CLIP-seq
MIRT2542633	hsa-miR-105	CLIP-seq
MIRT1032411	hsa-miR-1229	CLIP-seq
MIRT1032417	hsa-miR-27a	CLIP-seq
MIRT1032418	hsa-miR-27b	CLIP-seq
MIRT2542634	hsa-miR-3691-3p	CLIP-seq
MIRT2682057	hsa-miR-3919	CLIP-seq
MIRT2682058	hsa-miR-3925-5p	CLIP-seq
MIRT2682059	hsa-miR-4756-3p	CLIP-seq
MIRT1032449	hsa-miR-513a-5p	CLIP-seq
MIRT2682060	hsa-miR-589	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004021	Function	L-alanine:2-oxoglutarate aminotransferase activity	IDA	11863375
GO:0004021	Function	L-alanine:2-oxoglutarate aminotransferase activity	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006103	Process	2-oxoglutarate metabolic process	IDA	11863375
GO:0008483	Function	Transaminase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0042851	Process	L-alanine metabolic process	IDA	11863375
GO:0042853	Process	L-alanine catabolic process	IEA

MIM	HGNC	e!Ensembl
138210	18062	ENSG00000166123

Q8TD30

Protein name

Alanine aminotransferase 2 (ALT2) (EC 2.6.1.2) (Glutamate pyruvate transaminase 2) (GPT 2) (Glutamic--alanine transaminase 2) (Glutamic--pyruvic transaminase 2)

Protein function

Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.

PDB

3IHJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00155	Aminotran_1_2	110 → 511	Aminotransferase class I and II	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in muscle, adipose tissue, kidney and brain and at lower levels in the liver and breast. {ECO:0000269|PubMed:11863375}.

Sequence

MQRAAALVRRGCGPRTPSSWGRSQSSAAAEASAVLKVRPERSRRERILTLESMNPQVKAV
EYAVRGPIVLKAGEIELELQRGIKKPFTEVIRANIGDAQAMGQQPITFLRQVMALCTYPN
LLDSPSFPEDAKKRARRILQACGGNSLGSYSASQGVNCIREDVAAYITRRDGGVPADPDN
IYLTTGASDGISTILKILVSGGGKSRTGVMIPIPQYPLYSAVISELDAIQVNYYLDEENC
WALNVNELRRAVQEAKDHCDPKVLCIINPGNPTGQVQSRKCIEDVIHFAWEEKLFLLADE
VYQDNVYSPDCRFHSFKKVLYEMGPEYSSNVELASFHSTSKGYMGECGYRGGYMEVINLH
PEIKGQLVKLLSVRLCPPVSGQAAMDIVVNPPVAGEESFEQFSREKESVLGNLAKKAKLT
EDLFNQVPGIHCNPLQGAMYAFPRIFIPAKAVEAAQAHQMAPDMFYCMKLLEETGICVVP
GSGFGQREGTYHFRMTILPPVEKLKTVLQKVKDFHINFLEKYA

Sequence length

523

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glutamate pyruvate transaminase 2 deficiency	Likely pathogenic; Pathogenic	rs190315044, rs786203999, rs115352435, rs2548953788, rs1596864597, rs2548982827, rs2548963176, rs1437184398, rs1420397443, rs1372862248, rs1961429340, rs1961013082, rs2548985626	RCV001782232 RCV000167577 RCV000241531 RCV003314313 RCV003314494 RCV003314496 RCV004006262 RCV001030779 RCV001263541 RCV001263542 RCV001263543 RCV001263544 RCV001270398
Rare genetic intellectual disability	Likely pathogenic	rs2548963125	RCV001257001

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs114467444	RCV005927306
Adrenocortical carcinoma, hereditary	Benign	rs114467444	RCV005927310
Aggressive behavior	Uncertain significance	rs1596864468	RCV000853051
Cervical cancer	Benign	rs114467444	RCV005927311
Clear cell carcinoma of kidney	Benign	rs114467444	RCV005927312
Colon adenocarcinoma	Benign	rs114467444	RCV005927305
Colorectal cancer	Benign	rs114467444	RCV005927313
Delayed speech and language development	Uncertain significance	rs1596864468	RCV000853051
Frequent falls	Uncertain significance	rs1596864468	RCV000853051
Gastric cancer	Benign	rs114467444	RCV005927315
GPT2-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	rs114467444, rs2548989725, rs2548966808, rs148800227, rs35148330, rs115740639	RCV003919035 RCV003412006 RCV003934441 RCV003914455 RCV003935908 RCV004749527
GPT2-related neurodevelopmental disorder	Uncertain significance	rs1036407765, rs1277787958	RCV002508982 RCV002509012
Hepatocellular carcinoma	Benign	rs114467444	RCV005927307
Hereditary spastic paraplegia 73	Conflicting classifications of pathogenicity	rs745565332	RCV003314037
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	rs778445616, rs140225037, rs202025868	RCV001824106 RCV001252246 RCV001252247
Lung cancer	Benign	rs114467444	RCV005927321
Malignant tumor of esophagus	Benign	rs114467444	RCV005927308
Malignant tumor of urinary bladder	-	rs1961358590	RCV005931769
Melanoma	Benign	rs114467444	RCV005927320
Mild intellectual disability	Uncertain significance	rs1596864468	RCV000853051
Neurodevelopmental disorder	Uncertain significance	rs377334484	RCV001291510
Nonpapillary renal cell carcinoma	Benign	rs114467444	RCV005927309
Ovarian serous cystadenocarcinoma	Benign	rs114467444	RCV005927316
Sarcoma	Benign	rs114467444	RCV005927314
Thymoma	Benign	rs114467444	RCV005927318
Thyroid cancer, nonmedullary, 1	Benign	rs114467444	RCV005927319
Uterine carcinosarcoma	Benign	rs114467444	RCV005927317
Uterine corpus endometrial carcinoma	Benign	rs114467444	RCV005927322

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Associate	37883219
Atrophy	Associate	35196498
Carcinogenesis	Associate	27732857
Carcinoma Non Small Cell Lung	Associate	32718002
Carcinoma Renal Cell	Associate	36527113
Colorectal Neoplasms	Associate	27732857, 36821417
COVID 19	Associate	36379381
Depression Postpartum	Associate	31471722
Developmental Disabilities	Associate	31471722
Fatty Liver Alcoholic	Associate	37883219
Infantile Epileptic Dyskinetic Encephalopathy	Associate	25758935
Intellectual Disability	Associate	25758935, 29667327, 31471722, 35196498
Microcephaly	Associate	35196498
Muscular Diseases	Inhibit	35196498
Neoplasms	Associate	24027430, 25105592, 27732857
Neurologic Manifestations	Associate	35196498
Pancreatic Neoplasms	Associate	31706267
Paraplegia	Associate	31471722
Prostatic Neoplasms	Associate	26824323
Retroperitoneal liposarcoma	Associate	39769278
Rhabdomyosarcoma	Associate	24027430
Spasms Infantile	Associate	29667327

GPT2 (glutamic--pyruvic transaminase 2)