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  2. AKR1E2 - aldo-keto reductase family 1 member E2 Gene

AKR1E2 - aldo-keto reductase family 1 member E2 Gene

中文名称:醛酮还原酶家族 1 成员 E2

种属: Homo sapiens

同用名: TAKR; hTSP; HTSP1; htAKR; AKRDC1; AKR1CL2; LoopADR

基因 ID: 83592 | 基因类型: protein coding

关于 AKR1E2

Cytogenetic location: 10p15.1 Genomic coordinates (GRCh38): 10:4,824,973-4,873,237 (from NCBI)

This gene has 13 transcripts (splice variants), 350 orthologues, 16 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 4.3), thyroid (RPKM 0.6) and 8 other tissues.

功能概要

由该基因编码的蛋白质是醛酮还原酶超家族的成员。该家族成员的特征在于它们的结构 (进化上高度保守的 TIM 桶) 和功能 (NAD (P) H 依赖性羰基氧化还原) 。已在人类睾丸标本中报道了该基因的转录本。可变剪接导致多个转录本变体。[RefSeq 提供,2012 年 8 月]

The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

AKR1E2 基因产物(3)

mRNA Protein Name
NM_001040177.3 NP_001035267.1 1,5-anhydro-D-fructose reductase isoform 1
NM_001271021.2 NP_001257950.1 1,5-anhydro-D-fructose reductase isoform 2
NM_001271025.2 NP_001257954.1 1,5-anhydro-D-fructose reductase isoform 3
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 oxidoreductase activity IDA
IDA: 通过直接分析推断
15118078 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

AKR1E2 蛋白结构

Aldo_ket_red

Aldo_ket_red: Aldo/keto reductase family (13 - 297)

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

1,5-anhydro-D-fructose reductase

AF reductase

关联疾病

疾病名称 别名
Cataract 18

Cataract, Autosomal Recessive Congenital 2

Catc2

CTRCT18

Autosomal Recessive Congenital Cataract 2

Cataract 18, Autosomal Recessive

Cataract 18 Autosomal Recessive

Cataract, Type 18

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

直系同源

种属 基因名 来源 基因 ID
Felis catus AKR1E2 VGNC VGNC:59726
Mus musculus AKR1E2 MGD MGI:1914758
Canis familiaris AKR1E2 VGNC VGNC:37769
Rattus norvegicus AKR1E2 RGD RGD:1309599
Macaca mulatta AKR1E2 VGNC VGNC:69674
Bos taurus AKR1E2 VGNC VGNC:57038