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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AKR1C2 Gene

protein-coding   GIFtS: 64
GCID: GC10M005021

Aldo-Keto Reductase Family 1, Member C2

(Previous names: aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase...)
(Previous symbol: DDH2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Aldo-Keto Reductase Family 1, Member C21 2     HBAB2
DDH21 2 3 5     MCDR22
DD22 3 5     SRXY82
Chlordecone Reductase Homolog HAKRD2 3     Aldo-Keto Reductase Family 1 Member C22
Trans-1,2-Dihydrobenzene-1,2-Diol Dehydrogenase2 3     Dihydrodiol Dehydrogenase 2; Bile Acid Binding Protein; 3-Alpha
Hydroxysteroid Dehydrogenase, Type III2
3-alpha-HSD32 3     Pseudo-Chlordecone Reductase2
DD-22 3     Type II Dihydrodiol Dehydrogenase2
DD/BABP2 3     EC 1.-.-.-3
HAKRD2 5     EC 1.1.1.2133
Aldo-Keto Reductase Family 1, Member C2 (Dihydrodiol Dehydrogenase 2; Bile
Acid Binding Protein; 3-Alpha Hydroxysteroid Dehydrogenase, Type III)1
     EC 1.3.1.203
Dihydrodiol Dehydrogenase 2; Bile Acid Binding Protein; 3-Alpha
Hydroxysteroid Dehydrogenase1
     Dihydrodiol Dehydrogenase 23
Type III1     Dihydrodiol Dehydrogenase/Bile Acid-Binding Protein3
AKR1C-pseudo2     Type III 3-Alpha-Hydroxysteroid Dehydrogenase3
BABP2     EC 1.1.18
DD2     

External Ids:    HGNC: 3851   Entrez Gene: 16462   Ensembl: ENSG000001516327   OMIM: 6004505   UniProtKB: P528953   

Export aliases for AKR1C2 gene to outside databases

Previous GC identifers: GC10M005079 GC10M004991 GC10M004985


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AKR1C2 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 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)

GeneCards Summary for AKR1C2 Gene: 
AKR1C2 (aldo-keto reductase family 1, member C2) is a protein-coding gene. Diseases associated with AKR1C2 include obesity hyperphagia and developmental delay, and ovarian endometriosis, and among its related super-pathways are Benzo(a)pyrene metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include alditol:NADP+ 1-oxidoreductase activity and carboxylic acid binding. An important paralog of this gene is AKR1CL1.

UniProtKB/Swiss-Prot: AK1C2_HUMAN, P52895
Function: Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the
3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen
5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high
bile-binding ability




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_008705.16  NC_018921.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AKR1C2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AKR1C2 promoter sequence
   Search SABiosciences Chromatin IP Primers for AKR1C2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKR1C2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p15-p14   Ensembl cytogenetic band:  10p15.1   HGNC cytogenetic band: 10p15-p14

AKR1C2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKR1C2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M005021:  view genomic region     (about GC identifiers)

Start:
5,029,967 bp from pter      End:
5,060,223 bp from pter
Size:
30,257 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AK1C2_HUMAN, P52895 (See protein sequence)
Recommended Name: Aldo-keto reductase family 1 member C2  
Size: 323 amino acids; 36735 Da
Subcellular location: Cytoplasm (Potential)
5 PDB 3D structures from and Proteopedia for AKR1C2:
1IHI (3D)        1J96 (3D)        1XJB (3D)        2HDJ (3D)        2IPJ (3D)    
Secondary accessions: A8K2N9 B4DKR9 Q14133 Q5SR16 Q7M4N1 Q96A71
Alternative splicing: 2 isoforms:  P52895-1   P52895-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AKR1C2: NX_P52895

Explore proteomics data for AKR1C2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P52895

  • 2 DME Specific Peptides for AKR1C2 (P52895)
     EKCKDAGL  KSIGVSNFN 

    AKR1C2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AKR1C2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001128713.1  NP_001345.1  NP_995317.1  

    ENSEMBL proteins: 
     ENSP00000370129   ENSP00000392694   ENSP00000474566   ENSP00000385221   ENSP00000408440  
    Reactome Protein details: P52895
    Human Recombinant Protein Products for AKR1C2: 
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    Sino Biological Recombinant Protein for AKR1C2
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    AKR1C2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AKR: Aldo-keto reductases

    4 InterPro protein domains:
     IPR001395 Aldo/ket_red
     IPR018170 Aldo/ket_reductase_CS
     IPR020471 Aldo/keto_reductase_subgr
     IPR023210 NADP_OxRdtase_dom

    Graphical View of Domain Structure for InterPro Entry P52895

    ProtoNet protein and cluster: P52895

    1 Blocks protein domain: IPB001395 Aldo/keto reductase

    UniProtKB/Swiss-Prot: AK1C2_HUMAN, P52895
    Similarity: Belongs to the aldo/keto reductase family


    AKR1C2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AK1C2_HUMAN, P52895
    Function: Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the
    3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen
    5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high
    bile-binding ability
    Catalytic activity: Trans-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + NADPH
    Catalytic activity: A 3-alpha-hydroxysteroid + NAD(P)(+) = a 3-oxosteroid + NAD(P)H
    Enzyme regulation: Inhibited by hexestrol with an IC(50) of 2.8 uM, 1,10-phenanthroline with an IC(50) of 2100 uM,
    1,7-phenanthroline with an IC(50) of 1500 uM, flufenamic acid with an IC(50) of 0.9 uM, indomethacin with an
    IC(50) of 75 uM, ibuprofen with an IC(50) of 6.9 uM, lithocholic acid with an IC(50) of 0.07 uM, ursodeoxycholic
    acid with an IC(50) of 0.08 uM and chenodeoxycholic acid with an IC(50) of 0.13 uM
    Biophysicochemical properties: Kinetic parameters: KM=260 uM for (s)-tetralol; KM=520 uM for (s)-indan-1-ol;
    KM=5000 uM for benzene dihydrodiol; KM=1 uM for 5-beta-pregnane-3-alpha,20-alpha-diol; KM=208 uM for
    9-alpha,11-beta-PGF2; KM=0.3 uM for 5-beta-androstane-3,17-dione; KM=79 uM for PGD2;

         Genatlas biochemistry entry for AKR1C2:
    aldo-keto reductase family 1,member C2 (3-alpha hydroxysteroid dehydrogenase,type III),mainly expressed in
    liver,also in other tissues,with high affinity binding for bile acids,also catalyzing detoxification of
    polycyclic aromatic hydrocarbons

         Enzyme Numbers (IUBMB): EC 1.3.1.201 EC 1.1.12 EC 1.1.1.2131 EC 1.-.-.-1

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004032alditol:NADP+ 1-oxidoreductase activity IDA--
    GO:0004958prostaglandin F receptor activity IDA18508192
    GO:0016491oxidoreductase activity ----
    GO:0016655oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA--
    GO:0018636phenanthrene 9,10-monooxygenase activity IDA--
         
    AKR1C2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AKR1C2:
     Increased cell number in S and 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AKR1C2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AKR1C2 
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    miRNA
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AKR1C2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Naphthalene metabolism
    Naphthalene metabolism0.32
    Benzo(a)pyrene metabolism0.32
    2Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.87
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.61
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.87
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.56
    Bile acid and bile salt metabolism0.74
    3Drug metabolism - cytochrome P450
    Chemical carcinogenesis0.77
    Metabolism of xenobiotics by cytochrome P4500.77
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    5Biological oxidations
    metapathway biotransformation0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AKR1C2
        Naphthalene metabolism


    1 Cell Signaling Technology (CST) Pathway for AKR1C2
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for AKR1C2
        Naphthalene metabolism

    2 BioSystems Pathways for AKR1C2
        Benzo(a)pyrene metabolism
    metapathway biotransformation


    5/7        Reactome Pathways for AKR1C2 (see all 7)
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Bile acid and bile salt metabolism
    Metabolism
    Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol


    3         Kegg Pathways  (Kegg details for AKR1C2):
        Steroid hormone biosynthesis
    Metabolism of xenobiotics by cytochrome P450
    Chemical carcinogenesis


    AKR1C2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AKR1C2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for AKR1C2 (ENSP000003701294) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COMMD8ENSP000003709844STRING: ENSP00000370984
    MAPK3ENSP000002630254STRING: ENSP00000263025
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006693prostaglandin metabolic process IDA8573067
    GO:0007186G-protein coupled receptor signaling pathway IDA18508192
    GO:0007586digestion IDA8573067
    GO:0008202steroid metabolic process IDA8573067
    GO:0008284positive regulation of cell proliferation IDA18508192

    AKR1C2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AKR1C2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AKR1C2 (AK1C2)

    10/12 HMDB Compounds for AKR1C2 (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Androstanedione5a-Androsta-3,17-dione (see all 11)846-46-8--
    Androsterone(3R,5S,8R,9S,10S,13S,14S)-3-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,14,15,16-tetradecahydrocyclopenta[a]phenanthren-17-one (see all 28)53-41-8--
    Chenodeoxycholic acid(+)-chenodeoxycholate (see all 13)474-25-9--
    Ibuprofenalpha-(4-Isobutylphenyl)propionate (see all 9)15687-27-1--
    Lithocholic acid(3a,5b)-3-hydroxy-cholan-24-oate (see all 5)434-13-9--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Pyrocatechol1,2-Dihydroxybenzene (see all 20)120-80-9--

    4 DrugBank Compounds for AKR1C2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--12810547 17139284 17016423 12416991
    Ursodeoxycholic acid(3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oic acid (see all 18)128-13-2targetinducer17139284 17016423 19747134
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423
    (10ALPHA,13ALPHA,14BETA,17ALPHA)-17-HYDROXYANDROST-4-EN-3-ONE-- --target--10592235

    10/25 Novoseek inferred chemical compound relationships for AKR1C2 gene (see all 25)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3alpha-hydroxysteroid 94.4 14 12416991 (1), 18252781 (1), 8546681 (1), 12539226 (1) (see all 13)
    5alpha-androstane-3alpha,17beta-diol 91.2 9 18252781 (1), 12539226 (1), 12810547 (1), 12604227 (1) (see all 7)
    dihydroprogesterone 83.1 2 15494612 (1)
    dihydrotestosterone 80.1 39 17283174 (6), 12810547 (4), 12604227 (4), 19258517 (3) (see all 12)
    chlordecone 77.9 5 7789999 (2), 10619355 (1), 8172617 (1)
    bile acid 77.6 4 10619355 (1), 8172617 (1), 15026176 (1)
    hydroxysteroid 75.3 2 16455123 (2)
    5alpha-dihydroprogesterone 72.7 3 11995921 (2)
    androstenedione 71.6 1 14671194 (1)
    testosterone 63.3 14 17283174 (3), 18252781 (1), 12810547 (1), 20056642 (1) (see all 10)

    Search CenterWatch for drugs/clinical trials and news about AKR1C2 / AK1C2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AKR1C2 gene (3 alternative transcripts): 
    NM_001135241.2  NM_001354.5  NM_205845.2  

    Unigene Cluster for AKR1C2:

    Aldo-keto reductase family 1, member C2
    Hs.567256  [show with all ESTs]
    Unigene Representative Sequence: NM_001354
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380753(uc009xhy.3 uc001ihs.3 uc001iht.3) ENST00000421196
    ENST00000460124(uc010qao.2) ENST00000604507 ENST00000604184 ENST00000604428
    ENST00000604711 ENST00000603073 ENST00000604439 ENST00000407674 ENST00000455190

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    Additional mRNA sequence: 

    AB209017.1 AK290304.1 AK296419.1 AK296686.1 AK308385.1 BC007024.1 BC063574.1 M33376.1 
    U05598.1 

    24/28 DOTS entries (see all 28):

    DT.92462965  DT.91810606  DT.100889730  DT.92462917  DT.97776113  DT.92027039  DT.100889726  DT.100889732 
    DT.121225152  DT.97855879  DT.40217695  DT.75180336  DT.429915  DT.100889725  DT.437774  DT.91931968 
    DT.92462948  DT.101985543  DT.121225011  DT.121225128  DT.91835807  DT.100031708  DT.100889727  DT.121225233 

    24/261 AceView cDNA sequences (see all 261):

    BQ955939 AB031084 CB157186 BF725515 CB118675 CB163887 CB118651 CB118539 
    CA309808 CB118742 AK091194 AW264533 F29946 BF059059 BU609072 BG289110 
    CB123934 NM_205845 CB118502 CA431705 BC007024 BU617644 BM787660 CA308355 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for AKR1C2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
    SP1:                                                                              
    SP2:                                                        -                     
    SP3:                          -                                                   
    SP4:                                                                              


    ECgene alternative splicing isoforms for AKR1C2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AKR1C2 expression in normal human tissues (normalized intensities)      AKR1C2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AKR1C2 Expression
    About this image


    AKR1C2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 6 entries
             HyStem+BMP4-induced E15 cells
             Human Preadipocyte-visceral (HPA-v)   
             Adipocyte   
     
     Epithelium (Uncategorized)    fully expand to see all 6 entries
             Human Tracheal Epithelial Cells (HTEpiC)   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Normal Human Articular chondrocytes (NHAC)   
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Mesenchymal Stem Cells
             Human Mesenchymal Stem Cells (hMSC)   

    See AKR1C2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKR1C2

    SOURCE GeneReport for Unigene cluster: Hs.567256

    UniProtKB/Swiss-Prot: AK1C2_HUMAN, P52895
    Tissue specificity: Expressed in fetal testes. Expressed in fetal and adult adrenal glands

        SABiosciences Custom PCR Arrays for AKR1C2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1C2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AKR1C2 gene from 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akr1c211 , 5 aldo-keto reductase family 1, member C211, 5 77.61(n)1
    73.37(a)1
      13 (2.56 cM)5
    773371  NM_029901.21  NP_084177.21 
     45740755 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    40(a)
    possible ortholog
    AAWZ02039178(2232-9123)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC535042 similar to hydroxysteroid (17-beta) dehydrogenase 5 75.62(n)    BC044678.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:566226
    zgc:56622
    43(a)
    possible ortholog
    18(12660381-12669534)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60843 aldehyde reductase 50(a)
    (best of 7)
      68C15   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y39G8B.1a3   -- 41(a)
    (best of 10)
      II(13970799-13972831)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GRE36
    Aldose reductase involved in methylglyoxal, d-xylo...
    37(a)
    1 → many
    VIII(323409-324392)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G599501 NAD(P)-linked oxidoreductase-like protein 51.48(n)
    44.44(a)
      842289  NM_104687.1  NP_176203.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04477001 hypothetical protein 47.97(n)
    40.96(a)
      4335976  NM_001059453.1  NP_001052918.1 


    ENSEMBL Gene Tree for AKR1C2 (if available)
    TreeFam Gene Tree for AKR1C2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKR1C2 gene
    AKR1C11 2  AKR1CL12  AKR1C32  AKR1B102  AKR1A12  AKR1C42  AKR1E22  AKR1B152  
    AKR1B12  AKR1D12  
    11 SIMAP similar genes for AKR1C2 using alignment to 3 protein entries:     AK1C2_HUMAN (see all proteins):
    AKR1C3    AKR1C4    AKR1C1    AKR1CL1    AKR1D1    AKR1B1
    AKR1B15    AKR1B10    AKR1A1    AKR1E2    LOC402299

    AKR1C2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1038 SNPs in AKR1C2 are shown (see all 1038)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666354
    46,XY sex reversal 8 (SRXY8)4--see VAR_0666352 N T mis40--------
    VAR_0666344
    46,XY sex reversal 8 (SRXY8)4--see VAR_0666342 H Q mis40--------
    VAR_0666334
    46,XY sex reversal 8 (SRXY8)4--see VAR_0666332 H Q mis40--------
    VAR_0666324
    46,XY sex reversal 8 (SRXY8)4--see VAR_0666322 I V mis40--------
    VAR_0147484
    ----see VAR_0147482 L Q mis40--------
    rs2012247491,2
    C--4948018(+) TGGCTA/GTAAGT 2 -- ut310--------
    rs680577791,2
    C,F--4948126(+) TTACAC/TCTCAA 2 -- ut312Minor allele frequency- T:0.00NA 4
    rs1905794501,2
    --4948132(+) CTCAAC/GTGTTC 2 -- ut310--------
    rs112528661,2
    C,F,H--4948245(+) GCAGCC/TGTACT 2 -- ut31 ese317Minor allele frequency- T:0.10NS EA NA WA 2326
    rs456158361,2
    C,F--4948333(+) AAAGTC/TTGCTT 2 -- ut311Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for AKR1C2 (5029967 - 5060223 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for AKR1C2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv894794CNV Loss21882294
    dgv123n67CNV Loss20364138
    nsv825221CNV Loss20364138
    nsv894783CNV Loss21882294
    nsv894792CNV Gain21882294
    nsv825228CNV Gain20364138
    nsv825227CNV Gain20364138
    esv1580698OTHER Inversion17803354
    esv9055OTHER Inversion19470904
    dgv2e19OTHER Inversion19470904


    Human Gene Mutation Database (HGMD): AKR1C2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AKR1C2
    DNA2.0 Custom Variant and Variant Library Synthesis for AKR1C2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600450    OMIM disorders: --

    UniProtKB/Swiss-Prot: AK1C2_HUMAN, P52895
  • 46,XY sex reversal 8 (SRXY8) [MIM:614279]: A disorder of sex development. Affected individuals have a
    46,XY karyotype but present as phenotypically normal females. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 18 diseases for AKR1C2:    About MalaCards
    obesity hyperphagia and developmental delay    ovarian endometriosis    disorders of sex development    alcoholism
    endometriosis    barrett's esophagus    esophageal adenocarcinoma    obesity
    cytochrome p450    prostate cancer    prostatitis    breast cancer
    lung cancer    esophagitis    squamous cell carcinoma    cervicitis
    hepatitis    adenocarcinoma

    1 disease from the University of Copenhagen DISEASES database for AKR1C2:
    Hepatitis B

    AKR1C2 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for AKR1C2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 29.9 12 17283174 (3), 12539226 (3), 18508192 (3), 12604227 (2) (see all 5)
    colon carcinoma 27.4 2 8573067 (1)
    breast cancer 13.3 3 19846565 (2)
    obesity 10.7 1 17302881 (1)
    nsclc 0 1 17266043 (1)
    tumors 0 6 17283174 (3), 17203165 (1), 15212687 (1)
    cancer 0 1 15929998 (1)

    Genetic Association Database (GAD): AKR1C2
    Human Genome Epidemiology (HuGE) Navigator: AKR1C2 (5 documents)

    Export disorders for AKR1C2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AKR1C2 gene, integrated from 9 sources (see all 125):
    (articles sorted by number of sources associating them with AKR1C2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence of the cDNA of a human dihydrodiol dehydrogenase isoform (AKR1C2) and tissue distribution of its mRNA. (PubMed id 9716498)1, 2, 3, 9 Shiraishi H.... Hara A. (1998)
    2. Human type 3 3alpha-hydroxysteroid dehydrogenase (aldo-keto reductase 1C2) and androgen metabolism in prostate cells. (PubMed id 12810547)1, 7, 9 Rizner T.L....Penning T.M. (2003)
    3. Crystal structure of human type III 3alpha-hydroxysteroid dehydrogenase/bile acid binding protein complexed with NADP(+) and ursodeoxycholate. (PubMed id 11513593)1, 2, 9 Jin Y....Lewis M. (2001)
    4. Close kinship of human 20alpha-hydroxysteroid dehydrogenase gene with three aldo-keto reductase genes. (PubMed id 10672042)1, 2, 9 Nishizawa M.... Ito S. (2000)
    5. Relationship of human liver dihydrodiol dehydrogenases to hepatic bile-acid-binding protein and an oxidoreductase of human colon cells. (PubMed id 8573067)1, 2, 9 Hara A....Ishida N. (1996)
    6. Structure of the human 3alpha-hydroxysteroid dehydrogenase type 3 in complex with testosterone and NADP at 1.25-A resolution. (PubMed id 11514561)1, 2, 9 Nahoum V.... Lin S.X. (2001)
    7. Structure of a gene coding for human dihydrodiol dehydrogenase/bile acid-binding protein. (PubMed id 7959017)1, 2, 9 Qin K.-N.... Cheng K.-C. (1994)
    8. Genetic variation in the progesterone receptor and me tabolism pathways and hormone therapy in relation to breast cancer risk. (PubMed id 19846565)1, 4, 9 Reding K.W....Malone K.E. (2009)
    9. Kinetics of allopregnanolone formation catalyzed by human 3 alpha-hydroxysteroid dehydrogenase type III (AKR1C2). (PubMed id 12416991)1, 7, 9 Trauger J.W....LoGrasso P.V. (2002)
    10. Genetic variation of genes involved in dihydrotestost erone metabolism and the risk of prostate cancer. (PubMed id 20056642)1, 4, 9 Setlur S.R....Demichelis F. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1646 HGNC: 385 AceView: AKR1C2 Ensembl:ENSG00000151632 euGenes: HUgn1646
    ECgene: AKR1C2 Kegg: 1646 H-InvDB: AKR1C2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AKR1C2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AKR1C2 gene:
    Search GeneIP for patents involving AKR1C2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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