• Gene id: 1646

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 deficien,
• Gene location: 10p15.1 (136819018: 136855891)     Exons: 7     NC_000003.12
• 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 cofacto
• 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: 36735
  • 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  IPR036812  
  • Prosite: PS00062 PS00063
  • 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:0047086	ketosteroid monooxygenase activity	IBA	molecular function
GO:0044598	doxorubicin metabolic process	IBA	biological process
GO:0042448	progesterone metabolic process	IBA	biological process
GO:0032052	bile acid binding	IBA	molecular function
GO:0016229	steroid dehydrogenase activity	IBA	molecular function
GO:0008106	alcohol dehydrogenase (NADP+) activity	IBA	molecular function
GO:0006693	prostaglandin metabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0047023	androsterone dehydrogenase activity	IBA	molecular function
GO:0044597	daunorubicin metabolic process	IBA	biological process
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0008207	C21-steroid hormone metabolic process	IBA	biological process
GO:0008202	steroid metabolic process	IBA	biological process
GO:0004032	alditol:NADP+ 1-oxidoreductase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0047115	trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0051897	positive regulation of protein kinase B signaling	IDA	biological process
GO:0008202	steroid metabolic process	IDA	biological process
GO:0007586	digestion	IDA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0004032	alditol:NADP+ 1-oxidoreductase activity	IDA	molecular function
GO:0047086	ketosteroid monooxygenase activity	IDA	molecular function
GO:0018636	phenanthrene 9,10-monooxygenase activity	IDA	molecular function
GO:0006693	prostaglandin metabolic process	IDA	biological process
GO:0071395	cellular response to jasmonic acid stimulus	IDA	biological process
GO:0047115	trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	IDA	molecular function
GO:0071799	cellular response to prostaglandin D stimulus	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0042448	progesterone metabolic process	IDA	biological process
GO:0032052	bile acid binding	IDA	molecular function
GO:0031406	carboxylic acid binding	IDA	molecular function
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA	molecular function
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0044598	doxorubicin metabolic process	IMP	biological process
GO:0044597	daunorubicin metabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05204	Chemical carcinogenesis
hsa00140	Steroid hormone biosynthesis

Diseases

Associated diseases	References
46,XY gonadal dysgenesis	KEGG:H00607
46,XY gonadal dysgenesis	KEGG:H00607
obesity	PMID:15494612
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)