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    AKR1C2 aldo-keto reductase family 1 member C2 [ Homo sapiens (human) ]

    Gene ID: 1646, updated on 27-Dec-2024

    Summary

    Official Symbol
    AKR1C2provided by HGNC
    Official Full Name
    aldo-keto reductase family 1 member C2provided by HGNC
    Primary source
    HGNC:HGNC:385
    See related
    Ensembl:ENSG00000151632 MIM:600450; AllianceGenome:HGNC:385
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DD; DD2; TDD; BABP; DD-2; DDH2; HBAB; HAKRD; MCDR2; SRXY8; DD/BABP; AKR1C-pseudo
    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 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]
    Expression
    Biased expression in fat (RPKM 84.8), liver (RPKM 37.2) and 10 other tissues See more
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    Genomic context

    See AKR1C2 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (4987775..5018000, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (4988109..5018344, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5029967..5060192, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member E2 Neighboring gene aldo-keto reductase family 1 member C6, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr10.185 Neighboring gene Sharpr-MPRA regulatory region 2775 Neighboring gene uncharacterized LOC124902365 Neighboring gene aldo-keto reductase family 1 member C1 Neighboring gene uncharacterized LOC101928051 Neighboring gene CRISPRi-validated cis-regulatory element chr10.193 Neighboring gene uncharacterized LOC107984198 Neighboring gene uncharacterized LOC124902366 Neighboring gene aldo-keto reductase family 1 member C3 Neighboring gene Sharpr-MPRA regulatory region 11333 Neighboring gene U8 small nucleolar RNA

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ53800

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to jasmonic acid stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to prostaglandin D stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in daunorubicin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in daunorubicin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in digestion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in doxorubicin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in doxorubicin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in progesterone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in progesterone metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in prostaglandin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in prostaglandin metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in steroid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    aldo-keto reductase family 1 member C2
    Names
    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 deficiency
    trans-1,2-dihydrobenzene-1,2-diol dehydrogenase
    type II dihydrodiol dehydrogenase
    NP_001128713.1
    NP_001307956.1
    NP_001345.1
    NP_001380321.1
    NP_995317.1
    XP_047280638.1
    XP_047280639.1
    XP_054220900.1
    XP_054220901.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031852.1 RefSeqGene

      Range
      19159..35241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135241.3NP_001128713.1  aldo-keto reductase family 1 member C2 isoform 2

      See identical proteins and their annotated locations for NP_001128713.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks multiple 3' coding exons, and includes a different terminal exon compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL391427
      Consensus CDS
      CCDS44350.1
      UniProtKB/TrEMBL
      B4E0M1
      Related
      ENSP00000408440.1, ENST00000455190.2
      Conserved Domains (1) summary
      cl00470
      Location:6123
      AKR_SF; Aldo-keto reductase (AKR) superfamily
    2. NM_001321027.2NP_001307956.1  aldo-keto reductase family 1 member C2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL391427, AL713867
      Consensus CDS
      CCDS81438.1
      UniProtKB/TrEMBL
      B4DK69
      Related
      ENSP00000392694.2, ENST00000421196.7
      Conserved Domains (2) summary
      COG0656
      Location:8279
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
      COG0667
      Location:17271
      Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
    3. NM_001354.6NP_001345.1  aldo-keto reductase family 1 member C2 isoform 1

      See identical proteins and their annotated locations for NP_001345.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AL391427, AL713867, BC007024, CA450425, DA451165, DA458030
      Consensus CDS
      CCDS7062.1
      UniProtKB/Swiss-Prot
      A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71
      Conserved Domains (1) summary
      cd19108
      Location:6308
      AKR_AKR1C1-35; AKR1C family of aldo-keto reductase (AKR)
    4. NM_001393392.1NP_001380321.1  aldo-keto reductase family 1 member C2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL391427, AL713867
      Consensus CDS
      CCDS7062.1
      UniProtKB/Swiss-Prot
      A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71
      Related
      ENSP00000370129.4, ENST00000380753.9
      Conserved Domains (1) summary
      cd19108
      Location:6308
      AKR_AKR1C1-35; AKR1C family of aldo-keto reductase (AKR)
    5. NM_205845.3NP_995317.1  aldo-keto reductase family 1 member C2 isoform 1

      See identical proteins and their annotated locations for NP_995317.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AL713867, BC007024, BC063574, CA450425
      Consensus CDS
      CCDS7062.1
      UniProtKB/Swiss-Prot
      A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71
      Conserved Domains (1) summary
      cd19108
      Location:6308
      AKR_AKR1C1-35; AKR1C family of aldo-keto reductase (AKR)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      4987775..5018000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424682.1XP_047280638.1  aldo-keto reductase family 1 member C2 isoform X1

      UniProtKB/Swiss-Prot
      A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71
    2. XM_047424683.1XP_047280639.1  aldo-keto reductase family 1 member C2 isoform X1

      UniProtKB/Swiss-Prot
      A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      4988109..5018344 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364925.1XP_054220900.1  aldo-keto reductase family 1 member C2 isoform X1

      UniProtKB/Swiss-Prot
      A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71
    2. XM_054364926.1XP_054220901.1  aldo-keto reductase family 1 member C2 isoform X1

      UniProtKB/Swiss-Prot
      A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71