GPT2 - glutamic--pyruvic transaminase 2 Gene

Homo sapiens

Also known as ALT2; GPT 2; MRT49; NEDSPM

Gene ID: 84706 | Gene type: protein coding

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

GPT2 Protein Structure

Aminotran_1_2

0
100
200
300
400
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05763	GPT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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
Macaca fascicularis	GPT2	NCBI	NCBI:102134328
Canis lupus familiaris	GPT2	NCBI
Others	GPT2	NCBI

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