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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 symbols: DDH2, TDD)
  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)
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Aliases
Aldo-Keto Reductase Family 1, Member C21 2     BABP2
DDH21 2 3 5     DD2
DD22 3 5     HBAB2
TDD1 2     MCDR22
Testicular 17,20-Desmolase Deficiency1 2     Aldo-Keto Reductase Family 1 Member C22
Chlordecone Reductase Homolog HAKRD2 3     Dihydrodiol Dehydrogenase 2; Bile Acid Binding Protein; 3-Alpha
Hydroxysteroid Dehydrogenase, Type III2
Trans-1,2-Dihydrobenzene-1,2-Diol Dehydrogenase2 3     Pseudo-Chlordecone Reductase2
3-alpha-HSD32 3     Type II Dihydrodiol Dehydrogenase2
DD-22 3     EC 1.-.-.-3
DD/BABP2 3     EC 1.1.1.3573
HAKRD2 5     EC 1.3.1.203
SRXY82 5     Dihydrodiol Dehydrogenase 23
Aldo-Keto Reductase Family 1, Member C2 (Dihydrodiol Dehydrogenase 2; Bile
Acid Binding Protein; 3-Alpha Hydroxysteroid Dehydrogenase, Type III)1
     Dihydrodiol Dehydrogenase/Bile Acid-Binding Protein3
Dihydrodiol Dehydrogenase 2; Bile Acid Binding Protein; 3-Alpha
Hydroxysteroid Dehydrogenase1
     Type III 3-Alpha-Hydroxysteroid Dehydrogenase3
Type III1     EC 1.1.18
AKR1C-pseudo2     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 46xy sex reversal 8, and obesity, hyperphagia, and developmental delay. GO annotations related to this gene include oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_008705.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for AKR1C2
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AK1C2_HUMAN, P52895 (See protein sequence)
Recommended Name: Aldo-keto reductase family 1 member C2  
Size: 323 amino acids; 36735 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for AKR1C2 (P52895)
     EKCKDAGL  KSIGVSNFN 


    See AKR1C2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    AKR1C2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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 EC 1.1.1.3571

         Gene Ontology (GO): Selected molecular function terms (see all 9):    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: Let us create your new Knockout/Knockin mouse model for AKR1C2
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    miRNA
    Products:
        
    miRTarBase miRNAs that target AKR1C2:
    hsa-mir-193b-3p (MIRT006986)

    Block miRNA regulation of human, mouse, rat AKR1C2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate AKR1C2
    SwitchGear 3'UTR luciferase reporter plasmidAKR1C2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1C2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AK1C2_HUMAN, P52895: Cytoplasm (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    AKR1C2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for AKR1C2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.00
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.00
    Bile acid and bile salt metabolism0.73
    2Chemical carcinogenesis
    Metabolism of xenobiotics by cytochrome P4500.71
    Chemical carcinogenesis0.71
    3Biological oxidations
    metapathway biotransformation0.42
    Benzo(a)pyrene metabolism0.00
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5Steroid hormone biosynthesis
    Steroid hormone biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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


    3 Reactome Pathways for AKR1C2
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol


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


    AKR1C2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AKR1C2
    Interactions:

        GeneGlobe Interaction Network for AKR1C2

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for AKR1C2 (ENSP000003701294) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COMMD8ENSP000003709844STRING: ENSP00000370984
    GLO1ENSP000003624634STRING: ENSP00000362463
    MCEEENSP000002442174STRING: ENSP00000244217
    MAPK3ENSP000002630254STRING: ENSP00000263025
    GPD1ENSP000003011494STRING: ENSP00000301149
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AKR1C2 (AK1C2)

    Selected 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

    Selected 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)



    AKR1C2 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 261):

    CB115985 AU280039 BG289110 BU609072 BQ421214 CB118651 AW264533 BU626898 
    BQ955939 BF059059 CB119264 CB118359 CB118742 CB118728 CB115859 BU153526 
    AB031084 BQ182205 BU675643 BU158823 AW873138 CA309808 F29946 BE439903 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    AKR1C2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 11) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             White adipocyte-like cells
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
    AKR1C2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AKR1C2 Protein Expression

    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

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AKR1C2 gene from Selected species (see all 10)    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 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC535042 similar to hydroxysteroid (17-beta) dehydrogenase 5 75.62(n)    BC044678.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G599601 AT1G59960 50.36(n)
    43.8(a)
      842290  NM_104688.3  NP_176204.1 


    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)
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    Paralogs for AKR1C2 gene
    AKR1C11 2  AKR1CL12  AKR1C32  AKR1B102  AKR1A12  AKR1C42  AKR1E22  AKR1B152  
    AKR1B12  AKR1D12  
    11 SIMAP similar genes for AKR1C2 using alignment to 4 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AKR1C2 (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--------
    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
    rs112528671,2
    C,F,H--4948346(+) GCGTTA/TCACAC 2 -- ut31 ese325Minor allele frequency- T:0.12NS EA NA WA 2812

    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600450   
    OMIM disorders: 614279  
    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

  • Selected diseases for AKR1C2 (see all 21):    
    About MalaCards
    46xy sex reversal 8    obesity, hyperphagia, and developmental delay    barrett esophagus/esophageal adenocarcinoma    ovarian endometriosis
    barrett's esophagus    endometriosis    obesity    prostate cancer
    prostatitis    esophagitis    breast cancer    hepatitis b
    adenocarcinoma    cervicitis    squamous cell carcinoma    hepatitis
    lung cancer    multiple myeloma    myeloma    endotheliitis

    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

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    PubMed articles for AKR1C2 gene, integrated from 10 sources (see all 127):
    (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. (Biochem. J. 1998)
    2. Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. (PubMed id 21802064)1, 2, 3 Fluck C.E.... Biason-Lauber A. (Am. J. Hum. Genet. 2011)
    3. 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. (Endocrinology 2003)
    4. 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. (Biochemistry 2001)
    5. Close kinship of human 20alpha-hydroxysteroid dehydrogenase gene with three aldo-keto reductase genes. (PubMed id 10672042)1, 2, 9 Nishizawa M.... Ito S. (Genes Cells 2000)
    6. 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. (Biochem. J. 1996)
    7. 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. (J. Biol. Chem. 2001)
    8. 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. (Gene 1994)
    9. Genetic variation in the progesterone receptor and metabolism pathways and hormone therapy in relation to breast cancer risk. (PubMed id 19846565)1, 4, 9 Reding K.W....Malone K.E. (Am. J. Epidemiol. 2009)
    10. 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. (Biochemistry 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1646 HGNC: 385 AceView: AKR1C2 Ensembl:ENSG00000151632 euGenes: HUgn1646
    ECgene: AKR1C2 Kegg: 1646 H-InvDB: AKR1C2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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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