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Aliases for AKR1E2 Gene

Aliases for AKR1E2 Gene

  • Aldo-Keto Reductase Family 1 Member E2 2 3 4 5
  • Aldo-Keto Reductase Family 1 Member C-Like Protein 2 3 4
  • Aldo-Keto Reductase Family 1, Member C-Like 2 2 3
  • Testis Aldo-Keto Reductase 3 4
  • Testis-Specific Protein 3 4
  • AF Reductase 3 4
  • AKR1CL2 3 4
  • LoopADR 3 4
  • AKRDC1 3 4
  • HtAKR 3 4
  • HTSP 3 4
  • 1,5-Anhydro-D-Fructose Reductase 3
  • Aldo-Keto Reductase LoopADR 3
  • EC 1.1.1.263 4
  • TAKR 3

External Ids for AKR1E2 Gene

Previous HGNC Symbols for AKR1E2 Gene

  • AKRDC1
  • AKR1CL2

Summaries for AKR1E2 Gene

Entrez Gene Summary for AKR1E2 Gene

  • 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]

GeneCards Summary for AKR1E2 Gene

AKR1E2 (Aldo-Keto Reductase Family 1 Member E2) is a Protein Coding gene. Diseases associated with AKR1E2 include Hypotrichosis 1. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 1,5-anhydro-D-fructose reductase activity. An important paralog of this gene is AKR1B1.

UniProtKB/Swiss-Prot for AKR1E2 Gene

  • Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro) (PubMed:12604216, PubMed:15118078).

Additional gene information for AKR1E2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKR1E2 Gene

Genomics for AKR1E2 Gene

GeneHancer (GH) Regulatory Elements for AKR1E2 Gene

Promoters and enhancers for AKR1E2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J004825 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 658.1 +39.9 39944 2 PKNOX1 ATF1 NEUROD1 SIN3A ZNF766 ZNF143 FOS CAVIN1 NCOA1 REST AKR1E2 UCN3 TUBAL3 AKR1C2 GC10P004844
GH10J005411 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.1 +626.4 626401 2.2 PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF48 YY1 POLR2B GLIS2 FOS NET1 FAM208B FBH1 TUBAL3 LOC105376384 AKR1E2 ENSG00000226647 UCN3 CALML5
GH10J004731 Enhancer 0.8 ENCODE 21.1 -53.3 -53332 2.6 NEUROD1 SIN3A YBX1 BMI1 RFX5 RARA ELK1 HSF1 FOS RCOR1 FAM208B AKR1E2 GC10P004746 LOC105376375 MANCR
GH10J004847 Enhancer 1.5 FANTOM5 Ensembl ENCODE 11 +62.5 62476 4 HDGF FOXA2 MLX ARNT ARID4B SIN3A ZNF2 IRF4 YY1 ZNF766 FAM208B NRBF2P5 AKR1E2 ENSG00000226647 UCN3 AKR1C2 GC10P004844 PIR32364
GH10J005486 Promoter/Enhancer 1.6 EPDnew ENCODE dbSUPER 10.3 +701.7 701655 4.5 HDGF PKNOX1 CLOCK NEUROD1 SIN3A ZBTB7B CBX5 ARID2 E2F8 FOS TUBAL3 CALML3-AS1 FBH1 ENSG00000226647 FAM208B CALML3 ENSG00000256462 AKR1E2 CALML5 UCN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AKR1E2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for AKR1E2 Gene

Genomic Locations for AKR1E2 Gene
chr10:4,786,629-4,854,131
(GRCh38/hg38)
Size:
67,503 bases
Orientation:
Plus strand
chr10:4,828,821-4,890,254
(GRCh37/hg19)
Size:
61,434 bases
Orientation:
Plus strand

Genomic View for AKR1E2 Gene

Genes around AKR1E2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKR1E2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKR1E2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKR1E2 Gene

Proteins for AKR1E2 Gene

  • Protein details for AKR1E2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JD6-AKCL2_HUMAN
    Recommended name:
    1,5-anhydro-D-fructose reductase
    Protein Accession:
    Q96JD6
    Secondary Accessions:
    • Q86Z16
    • Q86Z17
    • Q86Z18
    • Q9BU71

    Protein attributes for AKR1E2 Gene

    Size:
    320 amino acids
    Molecular mass:
    36589 Da
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for AKR1E2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKR1E2 Gene

Post-translational modifications for AKR1E2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AKR1E2 Gene

Domains & Families for AKR1E2 Gene

Gene Families for AKR1E2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AKR1E2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96JD6

UniProtKB/Swiss-Prot:

AKCL2_HUMAN :
  • Belongs to the aldo/keto reductase family.
Family:
  • Belongs to the aldo/keto reductase family.
genes like me logo Genes that share domains with AKR1E2: view

Function for AKR1E2 Gene

Molecular function for AKR1E2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro) (PubMed:12604216, PubMed:15118078).
UniProtKB/Swiss-Prot CatalyticActivity:
1,5-anhydro-D-glucitol + NADP(+) = 1,5-anhydro-D-fructose + NADPH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by p-chloromercuribenzoic acid and alkyliodines.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=6.1 uM for 9,10-phenanthrenequinone with NADPH as cofactor {ECO:0000269 PubMed:12604216}; KM=44.3 uM for 9,10-phenanthrenequinone (at 25 degrees Celsius) {ECO:0000269 PubMed:15118078}; KM=166 uM for NADPH (at 25 degrees Celsius) {ECO:0000269 PubMed:15118078}; KM=2.3 mM for NADH (at 25 degrees Celsius) {ECO:0000269 PubMed:15118078}; Vmax=0.42 nmol/min/mg enzyme towards 9,10-phenanthrenequinone with NADPH as cofactor {ECO:0000269 PubMed:12604216};

Enzyme Numbers (IUBMB) for AKR1E2 Gene

Phenotypes From GWAS Catalog for AKR1E2 Gene

Gene Ontology (GO) - Molecular Function for AKR1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004032 alditol:NADP+ 1-oxidoreductase activity IBA --
GO:0008106 alcohol dehydrogenase (NADP+) activity IBA --
GO:0016491 oxidoreductase activity IDA 15118078
GO:0050571 1,5-anhydro-D-fructose reductase activity IEA --
genes like me logo Genes that share ontologies with AKR1E2: view
genes like me logo Genes that share phenotypes with AKR1E2: view

Animal Model Products

CRISPR Products

miRNA for AKR1E2 Gene

miRTarBase miRNAs that target AKR1E2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1E2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AKR1E2 Gene

Localization for AKR1E2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR1E2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AKR1E2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
golgi apparatus 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKR1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with AKR1E2: view

Pathways & Interactions for AKR1E2 Gene

SuperPathways for AKR1E2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AKR1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IDA 15118078
genes like me logo Genes that share ontologies with AKR1E2: view

No data available for Pathways by source and SIGNOR curated interactions for AKR1E2 Gene

Drugs & Compounds for AKR1E2 Gene

(4) Additional Compounds for AKR1E2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,5-Anhydrosorbitol
  • 1,5-anhydro-D-Sorbitol
  • 1,5-Anhydroglucitol
  • 1,5-AG
  • 1,5-anhydro-D-Glucitol
  • 1-Deoxyglucose
154-58-5
D-1,5-Anhydrofructose
  • 1,5-anhydro-D-Fructose
  • 1,5-Anhydrofructose
  • 15-anhydro-D-FRUCTOSE
  • 1:5-anhydro-D-Fructose
75414-43-6
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with AKR1E2: view

Transcripts for AKR1E2 Gene

Unigene Clusters for AKR1E2 Gene

Aldo-keto reductase family 1, member E2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1E2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKR1E2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - -
SP2: - -
SP3: -
SP4: - - - -
SP5: - - -
SP6: - - - - -
SP7:
SP8: - - -

Relevant External Links for AKR1E2 Gene

GeneLoc Exon Structure for
AKR1E2
ECgene alternative splicing isoforms for
AKR1E2

Expression for AKR1E2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AKR1E2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AKR1E2 Gene

This gene is overexpressed in Testis (x12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AKR1E2 Gene



Protein tissue co-expression partners for AKR1E2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AKR1E2 Gene:

AKR1E2

SOURCE GeneReport for Unigene cluster for AKR1E2 Gene:

Hs.657944

mRNA Expression by UniProt/SwissProt for AKR1E2 Gene:

Q96JD6-AKCL2_HUMAN
Tissue specificity: Specifically expressed in testis (PubMed:12604216, PubMed:15118078). Expressed in testicular germ cells and testis interstitial cells (PubMed:15118078).

Evidence on tissue expression from TISSUES for AKR1E2 Gene

  • Intestine(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with AKR1E2: view

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKR1E2 Gene

Orthologs for AKR1E2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AKR1E2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKR1E2 34 33
  • 99.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AKR1E2 34 33
  • 79.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AKR1E2 34 33
  • 79.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Akr1e1 16 34 33
  • 78.96 (n)
rat
(Rattus norvegicus)
Mammalia Akr1e2 33
  • 78.63 (n)
oppossum
(Monodelphis domestica)
Mammalia AKR1E2 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 63 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves AKR 34
  • 59 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
AKR1B1L 34
  • 58 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 60 (a)
OneToMany
-- 34
  • 59 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii akr1b1 34
  • 55 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6084 34
  • 47 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G01670 33
  • 48.47 (n)
rice
(Oryza sativa)
Liliopsida Os05g0474600 33
  • 50.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToMany
Species where no ortholog for AKR1E2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AKR1E2 Gene

ENSEMBL:
Gene Tree for AKR1E2 (if available)
TreeFam:
Gene Tree for AKR1E2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKR1E2: view image

Paralogs for AKR1E2 Gene

Paralogs for AKR1E2 Gene

(11) SIMAP similar genes for AKR1E2 Gene using alignment to 5 proteins:

  • AKCL2_HUMAN
  • E9PK93_HUMAN
  • G3V1C1_HUMAN
  • H0YCI2_HUMAN
  • H0YDE8_HUMAN
genes like me logo Genes that share paralogs with AKR1E2: view

Variants for AKR1E2 Gene

Sequence variations from dbSNP and Humsavar for AKR1E2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000050283 -- 4,891,049(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000050761 -- 4,890,047(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000069193 -- 4,840,644(+) A/G 3_prime_UTR_variant, intron_variant
rs1000081379 -- 4,903,462(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000095038 -- 4,885,688(+) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AKR1E2 Gene

Variant ID Type Subtype PubMed ID
nsv1045155 CNV loss 25217958
esv4850 CNV loss 18987735
esv3545807 CNV deletion 23714750
esv2665522 CNV deletion 23128226

Variation tolerance for AKR1E2 Gene

Residual Variation Intolerance Score: 94.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.02; 80.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKR1E2 Gene

Human Gene Mutation Database (HGMD)
AKR1E2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKR1E2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKR1E2 Gene

Disorders for AKR1E2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AKR1E2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
hypotrichosis 1
  • hhs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AKR1E2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AKR1E2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKR1E2 Gene

Publications for AKR1E2 Gene

  1. Characterization of htAKR, a novel gene product in the aldo-keto reductase family specifically expressed in human testis. (PMID: 15118078) Azuma Y … Miki T (Molecular human reproduction 2004) 3 4 58
  2. Human testis specific protein: a new member of aldo-keto reductase superfamily. (PMID: 12604216) Nishinaka T … Yabe-Nishimura C (Chemico-biological interactions 2003) 3 4 58
  3. Genome wide association study: searching for genes underlying body mass index in the Chinese. (PMID: 24827717) Yang F … Deng HW (Biomedical and environmental sciences : BES 2014) 3 58
  4. Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis. (PMID: 25085501) Bunyavanich S … Weiss ST (BMC medical genomics 2014) 3 58
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 58

Products for AKR1E2 Gene

Sources for AKR1E2 Gene

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