AKR1C2 (aldo-keto reductase family 1 member C2)

2012-12-01  

Identity

HGNC
AKR1C2
LOCATION
10p15.1
LOCUSID
1646
ALIAS
AKR1C-pseudo,BABP,DD,DD-2,DD/BABP,DD2,DDH2,HAKRD,HBAB,MCDR2,SRXY8,TDD

Other Information

Locus ID:

NCBI: 1646
MIM: 600450
HGNC: 385
Ensembl: ENSG00000151632

Variants:

dbSNP: 1646
ClinVar: 1646
TCGA: ENSG00000151632
COSMIC: AKR1C2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151632ENST00000380753P52895
ENSG00000151632ENST00000421196B4DK69
ENSG00000151632ENST00000455190P52895
ENSG00000151632ENST00000604507S4R3P0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Steroid hormone biosynthesisKEGGhsa00140
Chemical carcinogenesisKEGGhsa05204
Chemical carcinogenesisKEGGko05204
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolREACTOMER-HSA-193368
Synthesis of bile acids and bile salts via 24-hydroxycholesterolREACTOMER-HSA-193775
Synthesis of bile acids and bile salts via 27-hydroxycholesterolREACTOMER-HSA-193807

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
128105472003Human type 3 3alpha-hydroxysteroid dehydrogenase (aldo-keto reductase 1C2) and androgen metabolism in prostate cells.45
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
152126872004Expression of progesterone metabolizing enzyme genes (AKR1C1, AKR1C2, AKR1C3, SRD5A1, SRD5A2) is altered in human breast carcinoma.33
154922892004Selective loss of AKR1C1 and AKR1C2 in breast cancer and their potential effect on progesterone signaling.31
164788292006Induction of AKR1C2 by phase II inducers: identification of a distal consensus antioxidant response element regulated by NRF2.30
242442762013Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.29
206898072010Genetic variation and antioxidant response gene expression in the bronchial airway epithelium of smokers at risk for lung cancer.23
118544862002Energetics by NMR: site-specific binding in a positively cooperative system.22
124169912002Kinetics of allopregnanolone formation catalyzed by human 3 alpha-hydroxysteroid dehydrogenase type III (AKR1C2).22
215211742011Stereospecific reduction of 5β-reduced steroids by human ketosteroid reductases of the AKR (aldo-keto reductase) superfamily: role of AKR1C1-AKR1C4 in the metabolism of testosterone and progesterone via the 5β-reductase pathway.19

Citation

Dessen P

AKR1C2 (aldo-keto reductase family 1 member C2)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53095/akr1c2