2. Gene
  3. GPT2 - glutamic--pyruvic transaminase 2 Gene

GPT2 - glutamic--pyruvic transaminase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：谷氨酸-丙酮酸转氨酶 2

种属: Homo sapiens

同用名: ALT2; GPT 2; MRT49; NEDSPM

基因 ID: 84706 | 基因类型: protein coding

关于 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.

功能概要

该基因编码线粒体丙氨酸转氨酶，这是一种吡哆醛酶，可催化丙氨酸和 2-氧代戊二酸之间的可逆转氨作用，生成丙酮酸和谷氨酸。丙氨酸转氨酶在许多组织 (包括骨骼肌、肾脏和肝脏) 中的糖异生和氨基酸代谢中发挥作用。在肝细胞系的代谢应激条件下，激活转录因子 4 会上调该基因。该基因的功能缺失突变与发育性脑病有关。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables L-alanine:2-oxoglutarate aminotransferase activity IDA
IDA: 通过直接分析推断
11863375 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in 2-oxoglutarate metabolic process IDA
IDA: 通过直接分析推断
11863375 GOA
involved in L-alanine metabolic process IDA
IDA: 通过直接分析推断
11863375 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GPT2 蛋白结构

Aminotran_1_2

Aminotran_1_2: Aminotransferase class I and II (111 - 510)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 523 a.a.
蛋白主名 其他名称

alanine aminotransferase 2

glutamate pyruvate transaminase 2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05763 GPT2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
Canis familiaris GPT2 NCBI NCBI:609510
Macaca fascicularis GPT2 NCBI NCBI:102134328
Canis lupus familiaris GPT2 NCBI
Others GPT2 NCBI
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