BCAT2 - branched chain amino acid transaminase 2 Gene

中文名称：支链氨基酸转氨酶 2

种属: Homo sapiens

同用名: BCAM; BCT2; HVLI; PP18; BCATM

基因 ID: 587 | 基因类型: protein coding

关于 BCAT2

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,795,064-48,811,029 (from NCBI)

This gene has 12 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in urinary bladder (RPKM 16.4), adrenal (RPKM 15.6) and 25 other tissues.

功能概要

该基因编码在线粒体中发现的支链氨基转移酶。编码的蛋白质形成二聚体，催化产生支链氨基酸亮氨酸、异亮氨酸和缬氨酸的第一步。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 9 月]

This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain Amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

BCAT2 基因产物(3)

mRNA	Protein	Name
NM_001164773.2	NP_001158245.1	branched-chain-amino-acid aminotransferase, mitochondrial isoform b
NM_001190.4	NP_001181.2	branched-chain-amino-acid aminotransferase, mitochondrial isoform a precursor
NM_001284325.2	NP_001271254.1	branched-chain-amino-acid aminotransferase, mitochondrial isoform c

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables L-isoleucine-2-oxoglutarate transaminase activity	IDA IDA: 通过直接分析推断	8702755	GOA
enables L-leucine-2-oxoglutarate transaminase activity	IDA IDA: 通过直接分析推断	8702755	GOA
enables L-valine-2-oxoglutarate transaminase activity	IDA IDA: 通过直接分析推断	8702755	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	28514442	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

BCAT2 蛋白结构

Aminotran_4

0
100
200
300
392 a.a.

蛋白主名

其他名称

branched-chain-amino-acid aminotransferase, mitochondrial

branched chain amino-acid transaminase 2, mitochondrial

BCAT2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	BCAT2	O15382	HSPD1	Homo sapiens	P10809	Anti Tag CoIP	28514442
种属内	BCAT2	O15382	HSPD1	Homo sapiens	P10809	Anti Tag CoIP	33961781

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Hypervalinemia And Hyperleucine-Isoleucinemia

Hypervalinemia Or Hyperleucine-Isoleucinemia	HVLI
Branched-Chain Aminotransferase Deficiency

Hyperleucine-Isoleucinemia

Maple Syrup Urine Disease

MSUD	Bckd Deficiency
Branched-Chain Ketoaciduria	Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
Keto Acid Decarboxylase Deficiency	Maple Syrup Urine Disease, Type Ii
Branched Chain Ketoaciduria	Classic Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease	Maple Syrup Urine Disease, Type Ia
Ketoacidaemia	Bckdh Deficiency
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency	Thiamine-Responsive Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease	Maple Syrup Urine Disease Type 1a
Maple Syrup Urine Disease Type 1b	Maple Syrup Urine Disease Type 2
Maple Syrup Urine Disease, Type Ib	Dihydrolipoamide Dehydrogenase Deficiency
Branched-Chain Ketoacid Dehydrogenase Deficiency	Maple Syrup Disease
Ketoacidemia	Classic Bckd Deficiency
Classic Msud	Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Classic Branched-Chain Ketoaciduria	Thiamine-Responsive Bckd Deficiency
Thiamine-Responsive Msud	Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Intermittent Bckd Deficiency	Intermittent Msud
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency	Maple Syrup Urine Disease 1a
MSUD1A	Maple Syrup Urine Disease Type Ia
Msud Type Ia	Maple Syrup Urine Disease 1b
MSUD1B	Maple Syrup Urine Disease Type Ib
Msud Type Ib	Maple Syrup Urine Disease 2
MSUD2	Maple Syrup Urine Disease Type Ii
Msud Type Ii	Nadh Cytochrome B5 Reductase Deficiency
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency	Ketonemia
Maple Syrup Urine Disease, Type 1b	Ketoacid Decarboxylase Deficiency
Oxoacid Decarboxylase Deficiency	Branched Chain Ketoacid Dehydrogenase Deficiency
Msud - [Maple-Syrup-Urine Disease]	Ketoaminoacidaemia
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]	Maple-Syrup-Urine Disorder
Maple-Syrup-Urine Syndrome

Pancreatic Cancer

Pancreatic Carcinoma	Carcinoma Of Pancreas
Familial Pancreatic Carcinoma	Pancreatic Neoplasm
Pancreatic Carcinoma, Familial	Malignant Neoplasm Of Pancreas
Pancreatic Acinar Carcinoma	Pancreatic Tumor
Familial Pancreatic Cancer	Neoplasm Of The Pancreas
Cancer Of The Pancreas	Pancreatic Carcinoma, Somatic
Pancreatic Cancer, Somatic	Ca Body Of Pancreas
Ca Head Of Pancreas	Ca Tail Of Pancreas
Malignant Neoplasm Of Body Of Pancreas	Malignant Neoplasm Of Head Of Pancreas
Malignant Neoplasm Of Tail Of Pancreas	Pancreas Neoplasm
Exocrine Cancer	Exocrine Pancreas Carcinoma
Hereditary Pancreatic Cancer	Hereditary Pancreatic Carcinoma
PNCA	Pancreatic Cancer, Susceptibility To
Carcinoma Of Head Of Pancreas	Pancreatic Neoplasms
Pancreatic Tumors	Cancer, Pancreatic
Cancer Of Pancreas	Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-148242	BAY-069		99.58%	否
HY-148242A	BAY-252		99.83%	否
HY-156965	BAY-771		/	否
HY-RS01403	BCAT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	BCAT2	RGD	RGD:68948
Canis familiaris	BCAT2	VGNC	VGNC:38402
Mus musculus	BCAT2	MGD	MGI:1276534
Bos taurus	BCAT2	VGNC	VGNC:26440
Felis catus	BCAT2	VGNC	VGNC:69203
Macaca mulatta	BCAT2	VGNC	VGNC:70237
Others	BCAT2	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

BCAT2 - branched chain amino acid transaminase 2 Gene

关于 BCAT2

功能概要

BCAT2 基因产物(3)

BCAT2 蛋白结构

BCAT2 蛋白互作信息

关联疾病

直系同源

热门区域

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BCAT2 - branched chain amino acid transaminase 2 Gene

关于 BCAT2

功能概要

BCAT2 基因产物(3)

BCAT2 蛋白结构

BCAT2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z