AKR1C2 (aldo-keto reductase family 1 member C2)

Gene

• Entrez ID: 1646
• Gene name: Aldo-keto reductase family 1 member C2
• Gene symbol: AKR1C2
• Synonyms: AKR1C-pseudo, BABP, DD, DD-2, DD/BABP, DD2, DDH2, HAKRD, HBAB, MCDR2, SRXY8, TDD
• Chromosome: 10
• Chromosome location: 10p15.1
• 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 cofacto

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906750	T>C	Pathogenic	Coding sequence variant, missense variant
rs387906751	T>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797044460	A>C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006986	hsa-miR-193b-3p	Luciferase reporter assay	21512034
MIRT006986	hsa-miR-193b-3p	Reporter assay;Proteomics	21512034
MIRT776283	hsa-miR-1825	CLIP-seq
MIRT776284	hsa-miR-199a-5p	CLIP-seq
MIRT776285	hsa-miR-199b-5p	CLIP-seq
MIRT776286	hsa-miR-3925-3p	CLIP-seq
MIRT776287	hsa-miR-4302	CLIP-seq
MIRT776288	hsa-miR-4311	CLIP-seq
MIRT776289	hsa-miR-548aa	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TWIST1	Activation	19051271
TWIST2	Activation	19051271

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004032	Function	Alditol:NADP+ 1-oxidoreductase activity	IBA	21873635
GO:0004032	Function	Alditol:NADP+ 1-oxidoreductase activity	IDA	21232532
GO:0004303	Function	Estradiol 17-beta-dehydrogenase activity	IEA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006693	Process	Prostaglandin metabolic process	IBA	21873635
GO:0006693	Process	Prostaglandin metabolic process	IDA	8573067
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	18508192
GO:0007586	Process	Digestion	IDA	8573067
GO:0008202	Process	Steroid metabolic process	IBA	21873635
GO:0008202	Process	Steroid metabolic process	IDA	8573067
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	18508192
GO:0016229	Function	Steroid dehydrogenase activity	IBA	21873635
GO:0016655	Function	Oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA	20837989
GO:0018636	Function	Phenanthrene 9,10-monooxygenase activity	IDA	21851338
GO:0030855	Process	Epithelial cell differentiation	IEP	21492153
GO:0031406	Function	Carboxylic acid binding	IDA	8573067
GO:0032052	Function	Bile acid binding	IBA	21873635
GO:0032052	Function	Bile acid binding	IDA	8573067
GO:0042448	Process	Progesterone metabolic process	IBA	21873635
GO:0042448	Process	Progesterone metabolic process	IDA	21232532
GO:0044597	Process	Daunorubicin metabolic process	IBA	21873635
GO:0044597	Process	Daunorubicin metabolic process	IMP	20837989
GO:0044598	Process	Doxorubicin metabolic process	IBA	21873635
GO:0044598	Process	Doxorubicin metabolic process	IMP	20837989
GO:0047023	Function	Androsterone dehydrogenase activity	IBA	21873635
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase activity	IEA
GO:0047086	Function	Ketosteroid monooxygenase activity	IBA	21873635
GO:0047086	Function	Ketosteroid monooxygenase activity	IDA	21232532
GO:0047115	Function	Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	IDA	8573067
GO:0047718	Function	Indanol dehydrogenase activity	IEA
GO:0051897	Process	Positive regulation of protein kinase B signaling	IDA	18508192
GO:0071395	Process	Cellular response to jasmonic acid stimulus	IDA	19487289
GO:0071799	Process	Cellular response to prostaglandin D stimulus	IDA	18508192

Other IDs

• MIM: 600450
• HGNC: 385
• e!Ensembl: ENSG00000151632

Protein

• UniProt ID: P52895
• Protein name: Aldo-keto reductase family 1 member C2 (EC 1.-.-.-) (EC 1.1.1.112) (EC 1.1.1.209) (EC 1.1.1.53) (EC 1.1.1.62) (EC 1.3.1.20) (3-alpha-HSD3) (Chlordecone reductase homolog HAKRD) (Dihydrodiol dehydrogenase 2) (DD-2) (DD2) (Dihydrodiol dehydrogenase/bile aci
• Protein function: Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids (PubMed:19218247). Most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by phys
• PDB: 1IHI, 1J96, 1XJB, 2HDJ, 2IPJ, 4JQ1, 4JQ2, 4JQ3, 4JQ4, 4JQA, 4JTQ, 4JTR, 4L1W, 4L1X, 4XO6, 4XO7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00248	Aldo_ket_red	18 → 301	Aldo/keto reductase family	Domain

• Sequence:

  MDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEAVKLAIEAGFHHIDSAHVYNNEEQ
  VGLAIRSKIADGSVKREDIFYTSKLWSNSHRPELVRPALERSLKNLQLDYVDLYLIHFPV
  SVKPGEEVIPKDENGKILFDTVDLCATWEAMEKCKDAGLAKSIGVSNFNHRLLEMILNKP
  GLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSHREEPWVDPNSPVLLEDPV
  LCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLN
  RNVRYLTLDIFAGPPNYPFSDEY

• Sequence length: 323

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - reactive oxygen species

Reactome:

Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
46, xy disorder of sex development	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	rs387906750, rs797044460, rs387906751, rs13222, rs398122815
46, xy sex reversal	MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE	rs111033589, rs1592184934, rs121908255, rs121908256, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969, rs104894965, rs104894970, rs104894974, rs104894975, rs104894976, rs104894977, rs104894971, rs104894972, rs104894973, rs121918654, rs104894119, rs104894123, rs606231205, rs104894124, rs104894125, rs104894126, rs104894120, rs606231206, rs121918655, rs121918656, rs606231207, rs1131692053, rs387906788, rs606231252, rs200834568, rs863224904, rs775441984, rs867798393, rs886041049, rs1057517779, rs1057519638, rs1057519627, rs1131692186, rs1554721235, rs1554721883, rs1554034036, rs1556370556, rs1556370576, rs1556370548, rs1556370558, rs1565573786, rs1565572949, rs1480612338, rs1579750361, rs375469069, rs1603308308, rs1588618614, rs1588621944, rs1585684790, rs1954619788, rs1384892917, rs1954336272, rs1954346640, rs1954336215	21802064
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Dermatitis	Contact Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25724174
Obesity, hyperphagia, and developmental delay	Obesity, Hyperphagia, and Developmental Delay	rs121434633, rs1085308029, rs1554774973
Pseudohermaphroditism	Pseudohermaphroditism	rs119481075, rs119481076, rs119481077, rs201115371, rs144809928, rs750481017, rs372027264, rs773720185, rs1554694264, rs1554694678, rs747724352, rs767765046, rs149607031, rs1554705693	25304492

Unknown
Disease name	Disease term	dbSNP ID	References
Ambiguous genitalia	Ambiguous Genitalia	rs782562963	25304492
Endometrioma	Endometrioma		21232532
Endometriosis	Endometriosis	rs1800629, rs1143634	21232532
Hermaphroditism	Hermaphroditism		25304492
Disorder of sex development	Intersex Conditions		25304492
Liver carcinoma	Liver carcinoma		21472284
Male pseudohermaphroditism	Male Pseudohermaphroditism
Osteoarthrosis deformans	Osteoarthrosis Deformans		18784066
Sclerocystic ovaries	Sclerocystic Ovaries		22381227
Polycystic ovary syndrome	Polycystic Ovary Syndrome		22381227
Sex differentiation disorders	Sex Differentiation Disorders		25304492