AKR1C2 - aldo-keto reductase family 1 member C2 Gene

Also Known as DD; DD2; TDD; BABP; DD-2; DDH2; HBAB; HAKRD; MCDR2; SRXY8; DD/BABP; AKR1C-pseudo

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1646

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables aldose reductase (NADPH) activity IDA
IDA: Inferred from direct assay
21232532 GOA
enables bile acid binding IDA
IDA: Inferred from direct assay
8573067 GOA
enables carboxylic acid binding IDA
IDA: Inferred from direct assay
8573067 GOA
enables ketosteroid monooxygenase activity IDA
IDA: Inferred from direct assay
21232532 GOA
enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
IDA: Inferred from direct assay
20837989 GOA
enables trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity IDA
IDA: Inferred from direct assay
8573067 GOA
Biological Process GO Annotation Evidence References Source
involved in G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
18508192 GOA
involved in cellular response to jasmonic acid stimulus IDA
IDA: Inferred from direct assay
19487289 GOA
involved in cellular response to prostaglandin D stimulus IDA
IDA: Inferred from direct assay
18508192 GOA
involved in daunorubicin metabolic process IMP
IMP: Inferred from mutant phenotype
20837989 GOA
involved in digestion IDA
IDA: Inferred from direct assay
8573067 GOA
involved in doxorubicin metabolic process IMP
IMP: Inferred from mutant phenotype
20837989 GOA
involved in epithelial cell differentiation IEP
IEP: Inferred from expression pattern
21492153 GOA
involved in positive regulation of cell population proliferation IDA
IDA: Inferred from direct assay
18508192 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: Inferred from direct assay
18508192 GOA
involved in progesterone metabolic process IDA
IDA: Inferred from direct assay
21232532 GOA
involved in prostaglandin metabolic process IDA
IDA: Inferred from direct assay
8573067 GOA
involved in steroid metabolic process IDA
IDA: Inferred from direct assay
8573067 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AKR1C2 Protein Structure

Aldo_ket_red

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

  • 0
  • 100
  • 200
  • 300
  • 323 a.a.
Protein Preferred Names Protein Names

aldo-keto reductase family 1 member C2

  • 3-alpha-HSD3

Recombinant AKR1C2 Proteins

Cat. No. Product Name Accession Purity
HY-P7469 AKR1C2 Protein, Human P52895 (M1-Y323) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P75520 AKR1C2 Protein, Human (His) P52895 (M1-Y323) ≥ 90%, as determined by reducing SDS-PAGE.

AKR1C2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82930 AKR1C1/AKR1C2 Antibody (YA2675) WB, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus AKR1C2 RGD RGD:1311841
Others AKR1C2 NCBI