GPT2 - glutamic--pyruvic transaminase 2 Gene

Also Known as ALT2; GPT 2; MRT49; NEDSPM

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84706

About GPT2

Cytogenetic location: 16q11.2 Genomic coordinates (GRCh38): 16:46,884,362-46,931,289 (from NCBI)

This gene has 5 transcripts (splice variants), 181 orthologues, 7 paralogues and is associated with 2 phenotypes. Broad expression in fat (RPKM 41.2), pancreas (RPKM 29.0) and 15 other tissues.

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]

GPT2 Products (2)

mRNA	Protein	Name
NM_001142466.3	NP_001135938.1	alanine aminotransferase 2 isoform 2
NM_133443.4	NP_597700.1	alanine aminotransferase 2 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables L-alanine:2-oxoglutarate aminotransferase activity	IDA IDA: Inferred from direct assay	11863375	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in 2-oxoglutarate metabolic process	IDA IDA: Inferred from direct assay	11863375	GOA
involved in L-alanine metabolic process	IDA IDA: Inferred from direct assay	11863375	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GPT2 Protein Structure

Aminotran_1_2

0
100
200
300
400
500
523 a.a.

Protein Preferred Names	Protein Names
alanine aminotransferase 2	glutamate pyruvate transaminase 2

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	NEDSPM Neurodevelopmental Disorder With Microcephaly And Spastic Paraplegia Mental Retardation, Autosomal Recessive 49, Formerly Mrt49, Formerly Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome Mrt49
Rare Genetic Intellectual Disability
Filarial Elephantiasis	Lymphatic Filariasis Elephantiasis Filariasis Bancroftian Elephantiasis Bancroftian Filarial Chyluria Elephantiasis Of Eyelid Bancroftian Filariasis Elephantitis Malayi Tropical Eosinphilia Wuchereria Bancrofti Infection Wuchereriasis Elephantiasis, Filarial Filarial Elephantiases Infection By Wuchereria Bancrofti Filarial Lymphangitis Tropical Elephantiasis Filarial Chylocele
Loeys-Dietz Syndrome 2	LDS2 Aat3 Marfan Syndrome Type 2 Aortic Aneurysm, Familial Thoracic 3 Marfan Syndrome Type Ii Loeys-Dietz Syndrome Type 2 Mfs2 Marfan Syndrome, Type Ii, Formerly Familial Throacic Aortic Aneurysm 3 Familial Aortic Aneurysm Thoracic Type 3 Taad2 Thoracic Aortic Aneurysms And Dissection 2 Aneurysm, Aortic, Thoracic, Familial, Type 3 Loeys-Dietz Syndrome, Type 2
Developmental And Epileptic Encephalopathy 65	DEE65 Epileptic Encephalopathy, Early Infantile, 65 Eiee65 Developmental And Epileptic Encephalopathy, 65 Early Infantile Epileptic Encephalopathy 65 Encephalopathy, Epileptic, Early Infantile, Type 65
Cone-Rod Dystrophy 19	CORD19 Dystrophy, Cone-Rod, Type 19
Elephantiasis
Filariasis	Disease Due To Superfamily Filarioidea Bancroftian Filarial Fever Mumu Wanganga Bancroftian Filariasis Wuchereriosis Brugiosis Malayan Filariasis
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05763	GPT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16893	Gpt2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23335	Gpt2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GPT2	MGD	MGI:1915391
Bos taurus	GPT2	VGNC	VGNC:29617
Rattus norvegicus	GPT2	RGD	RGD:1305462
Macaca mulatta	GPT2	VGNC	VGNC:72962
Felis catus	GPT2	VGNC	VGNC:62700
Others	GPT2	NCBI