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

Gene ID: 83592, updated on 13-Mar-2020

Summary

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
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; 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

Genomic context

See AKR1E2 in Genome Data Viewer
Location:
10p15.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (4824554..4908421)
105 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 LOC105376375 Neighboring gene uncharacterized LOC107984197 Neighboring gene uncharacterized LOC105376374 Neighboring gene CRISPRi-validated cis-regulatory element chr10.180 Neighboring gene Sharpr-MPRA regulatory region 12277 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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Clone Names

  • MGC10612

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1,5-anhydro-D-fructose reductase activity IEA
Inferred from Electronic Annotation
more info
 
alcohol dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alditol:NADP+ 1-oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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
testis aldo-keto reductase
testis-specific protein
NP_001035267.1
NP_001257950.1
NP_001257954.1
XP_011518017.1
XP_011518020.1
XP_011518021.1
XP_011518022.1
XP_011518024.1
XP_011518026.1
XP_011518027.1
XP_016872232.1
XP_016872233.1
XP_016872234.1
XP_024303992.1
XP_024303993.1
XP_024303994.1

NCBI Reference Sequences (RefSeq)

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_001040177.3NP_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
    Q96JD6
    Related
    ENSP00000298375.7, ENST00000298375.12
    Conserved Domains (2) summary
    COG0656
    Location:2301
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:21293
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  2. NM_001271021.1NP_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:2244
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:21211
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  3. NM_001271025.1NP_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:2203
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:21114
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

RNA

  1. NR_073125.1 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

    Description
    Transcript Variant: This variant (5) uses two alternate splice sites, one in the 5' exon and one 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 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK074211, BI756016, BM724648, BU741321, DA006578
    Related
    ENST00000474119.5
  3. NR_073127.1 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    4824554..4908421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448226.1XP_024303994.1  1,5-anhydro-D-fructose reductase isoform X10

    Conserved Domains (1) summary
    COG0656
    Location:34202
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
  2. XM_017016743.1XP_016872232.1  1,5-anhydro-D-fructose reductase isoform X2

  3. XM_017016744.1XP_016872233.1  1,5-anhydro-D-fructose reductase isoform X5

    Conserved Domains (2) summary
    COG0656
    Location:34266
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:42246
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  4. XM_011519715.2XP_011518017.1  1,5-anhydro-D-fructose reductase isoform X1

    Conserved Domains (2) summary
    COG0656
    Location:34322
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:42314
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  5. XM_011519718.2XP_011518020.1  1,5-anhydro-D-fructose reductase isoform X3

    Conserved Domains (2) summary
    COG0656
    Location:34300
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:42300
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  6. XM_011519722.2XP_011518024.1  1,5-anhydro-D-fructose reductase isoform X5

    See identical proteins and their annotated locations for XP_011518024.1

    Conserved Domains (2) summary
    COG0656
    Location:34266
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:42246
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  7. XM_011519719.2XP_011518021.1  1,5-anhydro-D-fructose reductase isoform X4

    Conserved Domains (2) summary
    COG0656
    Location:34245
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:42246
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  8. XM_011519724.2XP_011518026.1  1,5-anhydro-D-fructose reductase isoform X6

    Conserved Domains (2) summary
    COG0656
    Location:34265
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:42232
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  9. XM_011519720.2XP_011518022.1  1,5-anhydro-D-fructose reductase isoform X5

    See identical proteins and their annotated locations for XP_011518022.1

    Conserved Domains (2) summary
    COG0656
    Location:34266
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:42246
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  10. XM_011519725.2XP_011518027.1  1,5-anhydro-D-fructose reductase isoform X9

    Conserved Domains (2) summary
    COG0656
    Location:34245
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:42246
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]
  11. XM_024448224.1XP_024303992.1  1,5-anhydro-D-fructose reductase isoform X7

    Conserved Domains (1) summary
    COG0656
    Location:2262
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
  12. XM_024448225.1XP_024303993.1  1,5-anhydro-D-fructose reductase isoform X8

    Conserved Domains (1) summary
    COG0656
    Location:2279
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
  13. XM_017016745.1XP_016872234.1  1,5-anhydro-D-fructose reductase isoform X11

RNA

  1. XR_001747220.1 RNA Sequence

  2. XR_930519.2 RNA Sequence

  3. XR_001747222.1 RNA Sequence

  4. XR_930518.2 RNA Sequence

  5. XR_930520.2 RNA Sequence

  6. XR_002957024.1 RNA Sequence

  7. XR_001747223.1 RNA Sequence

  8. XR_001747221.1 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.
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