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  2. AKR1C2 - aldo-keto reductase family 1 member C2 Gene

AKR1C2 - aldo-keto reductase family 1 member C2 Gene

中文名称:醛酮还原酶家族 1 成员 C2

种属: Homo sapiens

同用名: DD; DD2; TDD; BABP; DD-2; DDH2; HBAB; HAKRD; MCDR2; SRXY8; DD/BABP; AKR1C-pseudo

基因 ID: 1646 | 基因类型: protein coding

关于 AKR1C2

Cytogenetic location: 10p15.1 Genomic coordinates (GRCh38): 10:4,987,775-5,018,000 (from NCBI)

This gene has 10 transcripts (splice variants), 463 orthologues, 16 paralogues and is associated with 2 phenotypes. Biased expression in fat (RPKM 84.8), liver (RPKM 37.2) and 10 other tissues.

功能概要

该基因编码醛/酮还原酶超家族的一个成员,该家族由 40 多种已知的酶和蛋白质组成。这些酶使用 NADH 和/或 NADPH 作为辅因子催化醛和酮转化为其相应的醇。这些酶显示重叠但不同的底物特异性。该酶以高亲和力结合胆汁酸,并显示出最小的 3-α-羟基类固醇脱氢酶活性。该基因与其他三个基因成员具有高度序列同一性,并与染色体 10p15-p14 上的这三个基因聚集在一起。已发现该基因编码两种不同亚型的三种转录变体。[RefSeq 提供,2011 年 12 月]

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known Enzymes and proteins. These Enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The Enzymes display overlapping but distinct substrate specificity. This Enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

AKR1C2 基因产物(5)

mRNA Protein Name
NM_001135241.3 NP_001128713.1 aldo-keto reductase family 1 member C2 isoform 2
NM_001321027.2 NP_001307956.1 aldo-keto reductase family 1 member C2 isoform 3
NM_001354.6 NP_001345.1 aldo-keto reductase family 1 member C2 isoform 1
NM_001393392.1 NP_001380321.1 aldo-keto reductase family 1 member C2 isoform 1
NM_205845.3 NP_995317.1 aldo-keto reductase family 1 member C2 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 aldose reductase (NADPH) activity IDA
IDA: 通过直接分析推断
21232532 GOA
enables bile acid binding IDA
IDA: 通过直接分析推断
8573067 GOA
enables carboxylic acid binding IDA
IDA: 通过直接分析推断
8573067 GOA
enables ketosteroid monooxygenase activity IDA
IDA: 通过直接分析推断
21232532 GOA
enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
IDA: 通过直接分析推断
20837989 GOA
enables trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity IDA
IDA: 通过直接分析推断
8573067 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
18508192 GOA
involved in cellular response to jasmonic acid stimulus IDA
IDA: 通过直接分析推断
19487289 GOA
involved in cellular response to prostaglandin D stimulus IDA
IDA: 通过直接分析推断
18508192 GOA
involved in daunorubicin metabolic process IMP
IMP: 通过突变表型推断
20837989 GOA
involved in digestion IDA
IDA: 通过直接分析推断
8573067 GOA
involved in doxorubicin metabolic process IMP
IMP: 通过突变表型推断
20837989 GOA
involved in epithelial cell differentiation IEP
IEP: 通过表达模式推断
21492153 GOA
involved in positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
18508192 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: 通过直接分析推断
18508192 GOA
involved in progesterone metabolic process IDA
IDA: 通过直接分析推断
21232532 GOA
involved in prostaglandin metabolic process IDA
IDA: 通过直接分析推断
8573067 GOA
involved in steroid metabolic process IDA
IDA: 通过直接分析推断
8573067 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

AKR1C2 蛋白结构

Aldo_ket_red

Aldo_ket_red: Aldo/keto reductase family (19 - 300)

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

aldo-keto reductase family 1 member C2

3-alpha-HSD3

重组 AKR1C2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7469 AKR1C2 Protein, Human P52895 (M1-Y323) ≥95%
HY-P75520 AKR1C2 Protein, Human (His) P52895 (M1-Y323) ≥95%

关联疾病

疾病名称 别名
46,Xy Sex Reversal 8

SRXY8

Male Pseudohermaphroditism Due To Deficiency Of Testicular 17,20-Desmolase

Tdd

46,Xy Disorder Of Sex Development Due To Testicular 17,20-Desmolase Deficiency

46xy Sex Reversal 8

46xy Sex Reversal 8, Modifier Of

Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

Parasitic Protozoa Infectious Disease

Protozoan Infections

Mastigophora Infectious Disease

Sarcomastigophora Infectious Disease

Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 2

SRTD2

Atd2

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Jeune Syndrome 2

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency

Deficiency Of Glucose-6-Phosphate Dehydrogenase

Glucose 6 Phosphate Dehydrogenase Deficiency

Deficiency Of G-6pd

G6pdd

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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
Rattus norvegicus AKR1C2 RGD RGD:1311841
Others AKR1C2 NCBI