2. Gene
  3. AGXT2 - alanine--glyoxylate aminotransferase 2 Gene

AGXT2 - alanine--glyoxylate aminotransferase 2 Gene

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

中文名称：丙氨酸-乙醛酸转氨酶 2

种属: Homo sapiens

同用名: AGT2; BAIBA; DAIBAT

基因 ID: 64902 | 基因类型: protein coding

关于 AGXT2

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:34,998,102-35,047,949 (from NCBI)

This gene has 6 transcripts (splice variants), 218 orthologues, 4 paralogues and is associated with 1 phenotype. Biased expression in kidney (RPKM 69.3) and liver (RPKM 24.9).

功能概要

该基因编码的蛋白质是一种 III 类磷酸吡哆醛依赖性线粒体氨基转移酶。它使用 L-丙氨酸作为氨基供体，催化乙醛酸转化为甘氨酸。它是甲基精氨酸的重要调节剂，参与肾脏血压的控制。该基因的多态性影响甲基精氨酸和β-氨基异丁酸代谢，并与颈动脉粥样硬化有关。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 4 月]

The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

AGXT2 基因产物(2)

mRNA Protein Name
NM_001306173.2 NP_001293102.1 alanine--glyoxylate aminotransferase 2, mitochondrial isoform b precursor
NM_031900.4 NP_114106.1 alanine--glyoxylate aminotransferase 2, mitochondrial isoform a precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables (R)-3-amino-2-methylpropionate-pyruvate transaminase activity IDA
IDA: 通过直接分析推断
24586340 GOA
enables alanine-glyoxylate transaminase activity IDA
IDA: 通过直接分析推断
20018850 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-alanine catabolic process, by transamination IDA
IDA: 通过直接分析推断
20018850 GOA
involved in glycine biosynthetic process, by transamination of glyoxylate IDA
IDA: 通过直接分析推断
20018850 GOA
involved in glyoxylate catabolic process IDA
IDA: 通过直接分析推断
20018850 GOA
involved in positive regulation of nitric oxide biosynthetic process IDA
IDA: 通过直接分析推断
20018850 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
20018850 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

AGXT2 蛋白结构

Aminotran_3

Aminotran_3: Aminotransferase class-III (94 - 443)

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

alanine--glyoxylate aminotransferase 2, mitochondrial

(R)-3-amino-2-methylpropionate--pyruvate transaminase

关联疾病

疾病名称 别名
Beta-Aminoisobutyric Aciduria

Beta-Aminoisobutyric Acid, Urinary Excretion Of

BAIBA

Baib Urinary Excretion

Hyper-Beta-Aminoisobutyric Aciduria
Hyperoxaluria, Primary, Type Ii

Primary Hyperoxaluria Type 2

D-Glycerate Dehydrogenase Deficiency

Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency

HP2

Oxalosis Ii

Glyceric Aciduria

L-Glyceric Aciduria

Primary Hyperoxaluria, Type Ii

Oxalosis 2

Hyperoxaluria Primary 2

Hyperoxaluria Primary Type Ii

Ph2

Primary Hyperoxaluria Type Ii
Iminoglycinuria

Iminoglycinuria, Digenic

IG
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-RS00474 AGXT2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus AGXT2 VGNC VGNC:97343
Rattus norvegicus AGXT2 RGD RGD:621767
Macaca mulatta AGXT2 VGNC VGNC:81349
Canis familiaris AGXT2 VGNC VGNC:50868
Mus musculus AGXT2 MGD MGI:2146052
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