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Gene id

1646

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

AKR1C2 Gene UCSC Ensembl

Aliases

AKR1C-pseudo, BABP, DD, DD-2, DD/BABP, DD2, DDH2, HAKRD, HBAB, MCDR2, SRXY8, TDD

Gene name

aldo-keto reductase family 1 member C2

Alternate names

aldo-keto reductase family 1 member C2, 3-alpha-HSD3, chlordecone reductase homolog HAKRD, dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III, pseudo-chlordecone reductase, testicular 17,20-desmolase deficiency,

Gene location

10p15.1 (5018032: 4987774) Exons: 12 NC_000010.11

Gene summary(Entrez)

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]

OMIM

600450

Protein Summary

Protein general information

P52895

Name: Aldo keto reductase family 1 member C2 (EC 1. . . ) (3 alpha HSD3) (Chlordecone reductase homolog HAKRD) (Dihydrodiol dehydrogenase 2) (DD 2) (DD2) (Dihydrodiol dehydrogenase/bile acid binding protein) (DD/BABP) (Trans 1,2 dihydrobenzene 1,2 diol dehydrog

Length: 323 Mass: 36,735

Tissue specificity: Expressed in fetal testes. Expressed in fetal and adult adrenal glands. {ECO

Sequence

MDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEAVKLAIEAGFHHIDSAHVYNNEEQVGLAIRSKIADGSVK
REDIFYTSKLWSNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKDENGKILFDTVDLCATWEA
MEKCKDAGLAKSIGVSNFNHRLLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSHREE
PWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLN
RNVRYLTLDIFAGPPNYPFSDEY

Structural information

Interpro:	IPR018170 IPR020471 IPR023210
Prosite:	PS00062 PS00063
Pfam:	PF00248
CDD:	cd06660
PDB:	1IHI 1J96 1XJB 2HDJ 2IPJ 4JQ1 4JQ2 4JQ3 4JQ4 4JQA 4JTQ 4JTR 4L1W 4L1X 4XO6 4XO7
PDBsum:	1IHI 1J96 1XJB 2HDJ 2IPJ 4JQ1 4JQ2 4JQ3 4JQ4 4JQA 4JTQ 4JTR 4L1W 4L1X 4XO6 4XO7
STRING:	ENSP00000370129;

Other Databases

GeneCards: AKR1C2; Malacards: AKR1C2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	IDA	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006693	prostaglandin metabolic p rocess	IDA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007586	digestion	IDA	biological_process
GO:0008202	steroid metabolic process	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinon e or similar compound as acceptor	IDA	molecular_function
GO:0018636	phenanthrene 9,10-monooxy genase activity	IDA	molecular_function
GO:0030855	epithelial cell different iation	IEP	biological_process
GO:0031406	carboxylic acid binding	IDA	molecular_function
GO:0032052	bile acid binding	IDA	molecular_function
GO:0042448	progesterone metabolic pr ocess	IDA	biological_process
GO:0044597	daunorubicin metabolic pr ocess	IMP	biological_process
GO:0044598	doxorubicin metabolic pro cess	IMP	biological_process
GO:0047086	ketosteroid monooxygenase activity	IDA	molecular_function
GO:0047115	trans-1,2-dihydrobenzene- 1,2-diol dehydrogenase ac tivity	IDA	molecular_function
GO:0051897	positive regulation of pr otein kinase B signaling	IDA	biological_process
GO:0055114	oxidation-reduction proce ss	IDA	biological_process
GO:0071395	cellular response to jasm onic acid stimulus	IDA	biological_process
GO:0071799	cellular response to pros taglandin D stimulus	IDA	biological_process
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	IDA	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006693	prostaglandin metabolic p rocess	IDA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007586	digestion	IDA	biological_process
GO:0008202	steroid metabolic process	IEA	biological_process
GO:0008202	steroid metabolic process	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinon e or similar compound as acceptor	IDA	molecular_function
GO:0018636	phenanthrene 9,10-monooxy genase activity	IDA	molecular_function
GO:0030855	epithelial cell different iation	IEP	biological_process
GO:0031406	carboxylic acid binding	IDA	molecular_function
GO:0032052	bile acid binding	IDA	molecular_function
GO:0042448	progesterone metabolic pr ocess	IDA	biological_process
GO:0044597	daunorubicin metabolic pr ocess	IMP	biological_process
GO:0044598	doxorubicin metabolic pro cess	IMP	biological_process
GO:0047086	ketosteroid monooxygenase activity	IDA	molecular_function
GO:0047115	trans-1,2-dihydrobenzene- 1,2-diol dehydrogenase ac tivity	IEA	molecular_function
GO:0047115	trans-1,2-dihydrobenzene- 1,2-diol dehydrogenase ac tivity	IDA	molecular_function
GO:0051897	positive regulation of pr otein kinase B signaling	IDA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IDA	biological_process
GO:0071395	cellular response to jasm onic acid stimulus	IDA	biological_process
GO:0071799	cellular response to pros taglandin D stimulus	IDA	biological_process
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	IDA	molecular_function
GO:0006693	prostaglandin metabolic p rocess	IDA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007586	digestion	IDA	biological_process
GO:0008202	steroid metabolic process	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinon e or similar compound as acceptor	IDA	molecular_function
GO:0018636	phenanthrene 9,10-monooxy genase activity	IDA	molecular_function
GO:0030855	epithelial cell different iation	IEP	biological_process
GO:0031406	carboxylic acid binding	IDA	molecular_function
GO:0032052	bile acid binding	IDA	molecular_function
GO:0042448	progesterone metabolic pr ocess	IDA	biological_process
GO:0044597	daunorubicin metabolic pr ocess	IMP	biological_process
GO:0044598	doxorubicin metabolic pro cess	IMP	biological_process
GO:0047086	ketosteroid monooxygenase activity	IDA	molecular_function
GO:0047115	trans-1,2-dihydrobenzene- 1,2-diol dehydrogenase ac tivity	IDA	molecular_function
GO:0051897	positive regulation of pr otein kinase B signaling	IDA	biological_process
GO:0055114	oxidation-reduction proce ss	IDA	biological_process
GO:0071395	cellular response to jasm onic acid stimulus	IDA	biological_process
GO:0071799	cellular response to pros taglandin D stimulus	IDA	biological_process

KEGG pathways

hsa00140 Steroid hormone biosynthesis
hsa05204 Chemical carcinogenesis

Diseases

Associated diseases	References
46 XY sex reversal	OMIM: 600450
Endometriosis (ovarian)	PMID: 21232532
Cancer	PMID: 20056642
Endometrial cancer	PMID: 25463305
Hyperphagia	OMIM: 600450
Obesity	OMIM: 600450
Ovarian endometriosis	PMID: 21232532
Ovarian endometriosis	PMID: 21232532
Ovarian endometriosis	INFBASE21232532

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21232532	Endometrio sis (ovari an)					PR-AB HSD17B2 SRD5A2 AKR1C1 AKR1C2 AKR1C3 AKR1D1	Show abstract