Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1646
Gene name Gene Name - the full gene name approved by the HGNC.	Aldo-keto reductase family 1 member C2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AKR1C2
Synonyms (NCBI Gene) Gene synonyms aliases	AKR1C-pseudo, BABP, DD, DD-2, DD/BABP, DD2, DDH2, HAKRD, HBAB, MCDR2, SRXY8, TDD
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DD, MCDR2, SRXY8
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p15.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(3)

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

Show/Hide all(9)

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

Show/Hide all(2)

Transcription factor	Regulation	Reference
TWIST1	Activation	19051271
TWIST2	Activation	19051271

Show/Hide all(33)

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

MIM	HGNC	e!Ensembl
600450	385	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

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal testes. Expressed in fetal and adult adrenal glands. {ECO:0000269|PubMed:21802064}.

Sequence

MDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEAVKLAIEAGFHHIDSAHVYNNEEQ
VGLAIRSKIADGSVKREDIFYTSKLWSNSHRPELVRPALERSLKNLQLDYVDLYLIHFPV
SVKPGEEVIPKDENGKILFDTVDLCATWEAMEKCKDAGLAKSIGVSNFNHRLLEMILNKP
GLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSHREEPWVDPNSPVLLEDPV
LCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLN
RNVRYLTLDIFAGPPNYPFSDEY

Sequence length

323

Interactions

View interactions

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

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
46, xy disorder of sex development	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	rs387906750, rs797044460, rs387906751, rs13222
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 View all (54 more)	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

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Evidence	References	Source
Unknown
Ambiguous genitalia	Ambiguous Genitalia		25304492	ClinVar
Endometriosis	Endometriosis		21232532	ClinVar
46, XY disorder of sex development	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency			GenCC
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome			GWAS

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Inhibit	21829465
Breast Neoplasms	Associate	15212687, 19846565, 21512034, 25526449, 34886806
Carcinogenesis	Associate	36701414
Carcinoma Non Small Cell Lung	Associate	36596057
Carcinoma Renal Cell	Associate	40664780
Carcinoma Squamous Cell	Associate	15188492
Dent Disease	Associate	34680992
Depressive Disorder	Associate	28666923
Ehlers Danlos syndrome type 3	Associate	27518164
Esophageal Neoplasms	Associate	15188492
Esophageal Squamous Cell Carcinoma	Associate	26934124
Fatigue Syndrome Chronic	Associate	37978513
Fatty Liver Alcoholic	Stimulate	21931690
Hypospadias	Associate	24986825
Hypoxia	Associate	36316355
Leukemia Myeloid Acute	Associate	34789073
Lipedema	Associate	32872468
Neoplasm Metastasis	Associate	24244276, 37653798
Neoplasms	Associate	15188492, 25526449, 36701414
Oculocerebrorenal Syndrome	Associate	34680992
Parkinson Disease	Associate	40664780
Prostatic Neoplasms	Associate	33934205
Sarcoma Ewing	Associate	34680992
Squamous Cell Carcinoma of Head and Neck	Associate	36835286
Stomach Neoplasms	Inhibit	36701414
Stomach Neoplasms	Associate	37653798
Tuberculosis Extrapulmonary	Associate	34680992

AKR1C2 (aldo-keto reductase family 1 member C2)