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    AKR1E2 aldo-keto reductase family 1 member E2 [ Homo sapiens (human) ]

    Gene ID: 83592, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AKR1E2provided by HGNC
    Official Full Name
    aldo-keto reductase family 1 member E2provided by HGNC
    Primary source
    HGNC:HGNC:23437
    See related
    Ensembl:ENSG00000165568 MIM:617451; AllianceGenome:HGNC:23437
    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
    TAKR; hTSP; HTSP1; htAKR; AKRDC1; AKR1CL2; LoopADR
    Summary
    The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
    Expression
    Biased expression in testis (RPKM 4.3), thyroid (RPKM 0.6) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AKR1E2 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 (4824973..4873237)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (4825330..4873573)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (4868369..4890254)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984197 Neighboring gene uncharacterized LOC105376375 Neighboring gene uncharacterized LOC105376374 Neighboring gene NANOG hESC enhancer GRCh37_chr10:4857623-4858270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2078 Neighboring gene Sharpr-MPRA regulatory region 4775 Neighboring gene CRISPRi-validated cis-regulatory element chr10.180 Neighboring gene Sharpr-MPRA regulatory region 12277 Neighboring gene NANOG hESC enhancer GRCh37_chr10:4912837-4913364 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 aldo-keto reductase family 1 member C2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Human testis specific protein: a new member of aldo-keto reductase superfamily. Nishinaka T, et al. Chem Biol Interact, 2003 Feb 1. PMID 12604216
    2. Characterization of htAKR, a novel gene product in the aldo-keto reductase family specifically expressed in human testis. Azuma Y, et al. Mol Hum Reprod, 2004 Jul. PMID 15118078
    3. Genome wide association study: searching for genes underlying body mass index in the Chinese. Yang F, et al. Biomed Environ Sci, 2014 May. PMID 24827717, Free PMC Article
    4. Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. Clancy RM, et al. Arthritis Rheum, 2010 Nov. PMID 20662065, Free PMC Article
    5. Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis. Bunyavanich S, et al. BMC Med Genomics, 2014 Aug 2. PMID 25085501, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    2. results indicate that the expression of human testis aldo-keto reductase, down-regulated in the testicular tumour, is possibly controlled by mitogenic and hormonal signals
      Title: Characterization of htAKR, a novel gene product in the aldo-keto reductase family specifically expressed in human testis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study: searching for genes underlying body mass index in the Chinese.
    EBI GWAS Catalog
    Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.
    EBI GWAS Catalog
    Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC10612

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1,5-anhydro-D-fructose reductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables aldose reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxidoreductase activity 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

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    Preferred Names
    1,5-anhydro-D-fructose reductase
    Names
    AF reductase
    aldo-keto reductase family 1 member C-like protein 2
    aldo-keto reductase family 1, member C-like 2
    aldo-keto reductase loopADR
    human testis aldo-keto reductase
    human testis specific protein
    testis aldo-keto reductase
    testis-specific protein
    NP_001035267.1
    NP_001257950.1
    NP_001257954.1
    XP_011518017.2
    XP_024303992.1
    XP_024303993.1
    XP_047281767.1
    XP_047281768.1
    XP_054222852.1
    XP_054222853.1
    XP_054222854.1
    XP_054222855.1
    XP_054222856.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001040177.3 → NP_001035267.1  1,5-anhydro-D-fructose reductase isoform 1

      See identical proteins and their annotated locations for NP_001035267.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AF263242, BI756016, BU741321, DA006578
      Consensus CDS
      CCDS31134.1
      UniProtKB/Swiss-Prot
      Q86Z16, Q86Z17, Q86Z18, Q96JD6, Q9BU71
      Related
      ENSP00000298375.7, ENST00000298375.12
      Conserved Domains (2) summary
      COG0656
      Location:2 → 301
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
      COG0667
      Location:21 → 293
      Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

    2. NM_001271021.2 → NP_001257950.1  1,5-anhydro-D-fructose reductase isoform 2

      See identical proteins and their annotated locations for NP_001257950.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AB040821, BI756016, BU741321, DA006578
      Consensus CDS
      CCDS59209.1
      UniProtKB/Swiss-Prot
      Q96JD6
      Related
      ENSP00000335034.4, ENST00000334019.4
      Conserved Domains (2) summary
      COG0656
      Location:2 → 244
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
      COG0667
      Location:21 → 211
      Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

    3. NM_001271025.2 → NP_001257954.1  1,5-anhydro-D-fructose reductase isoform 3

      See identical proteins and their annotated locations for NP_001257954.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks three alternate in-frame exons in the coding region compared to variant 1. It encodes isoform 3 which is shorter than isoform 1.
      Source sequence(s)
      AB040822, BI756016, BU741321, DA006578
      Consensus CDS
      CCDS59210.1
      UniProtKB/Swiss-Prot
      Q96JD6
      Related
      ENSP00000335603.5, ENST00000345253.9
      Conserved Domains (2) summary
      COG0656
      Location:2 → 203
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
      COG0667
      Location:21 → 114
      Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

    RNA

    1. NR_073125.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC002862, BI756016, BU741321, DA006578
      Related
      ENST00000463345.5

    2. NR_073126.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK074211, BI756016, BM724648, BU741321, DA006578
      Related
      ENST00000474119.5

    3. NR_073127.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two alternate exons and uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB040820, BI756016, BU741321, DA006578

    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
      4824973..4873237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519715.3 → XP_011518017.2  1,5-anhydro-D-fructose reductase isoform X1

    2. XM_047425811.1 → XP_047281767.1  1,5-anhydro-D-fructose reductase isoform X2

    3. XM_024448225.2 → XP_024303993.1  1,5-anhydro-D-fructose reductase isoform X4

      Conserved Domains (1) summary
      COG0656
      Location:2 → 279
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]

    4. XM_024448224.2 → XP_024303992.1  1,5-anhydro-D-fructose reductase isoform X3

      Conserved Domains (1) summary
      COG0656
      Location:2 → 262
      ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]

    5. XM_047425812.1 → XP_047281768.1  1,5-anhydro-D-fructose reductase isoform X5

      UniProtKB/TrEMBL
      E9PK93

    RNA

    1. XR_001747220.2 RNA Sequence

    2. XR_930518.3 RNA Sequence

    3. XR_007062003.1 RNA Sequence

    4. XR_001747221.2 RNA Sequence

    5. XR_007062002.1 RNA Sequence

    6. XR_007062004.1 RNA Sequence

    7. XR_007062005.1 RNA Sequence

    8. XR_001747223.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      4825330..4873573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366877.1 → XP_054222852.1  1,5-anhydro-D-fructose reductase isoform X1

    2. XM_054366878.1 → XP_054222853.1  1,5-anhydro-D-fructose reductase isoform X2

    3. XM_054366880.1 → XP_054222855.1  1,5-anhydro-D-fructose reductase isoform X4

    4. XM_054366879.1 → XP_054222854.1  1,5-anhydro-D-fructose reductase isoform X3

    5. XM_054366881.1 → XP_054222856.1  1,5-anhydro-D-fructose reductase isoform X5

      UniProtKB/TrEMBL
      E9PK93

    RNA

    1. XR_008488288.1 RNA Sequence

    2. XR_008488289.1 RNA Sequence

    3. XR_008488292.1 RNA Sequence

    4. XR_008488290.1 RNA Sequence

    5. XR_008488291.1 RNA Sequence

    6. XR_008488293.1 RNA Sequence

    7. XR_008488295.1 RNA Sequence

    8. XR_008488294.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031436.2: Suppressed sequence

      Description
      NM_031436.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JD6.2 GenPept UniProtKB/Swiss-Prot:Q96JD6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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