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

Gene ID: 83592, updated on 11-Apr-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
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Genomic context

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Location:
10p15.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (4824973..4873237)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (4825330..4873573)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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)

Genotypes

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_2023_10

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

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

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

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