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AKR1E2 (aldo-keto reductase family 1 member E2)

Identity

Alias (NCBI)AKR1CL2
AKRDC1
HTSP1
LoopADR
TAKR
hTSP
htAKR
HGNC (Hugo) AKR1E2
HGNC Alias symbMGC10612
HTSP1
htAKR
HGNC Alias name1,5-anhydro-D-fructose reductase
 human testis specific protein
 human testis aldo-keto reductase
HGNC Previous nameAKRDC1
 AKR1CL2
HGNC Previous namealdo-keto reductase family 1, member C-like 2
LocusID (NCBI) 83592
Atlas_Id 53068
Location 10p15.1  [Link to chromosome band 10p15]
Location_base_pair Starts at 4826177 and ends at 4848059 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FARS2 (6p25.1) / AKR1E2 (10p15.1)FARS2 6p25.1 / AKR1E2 10p15.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)AKR1E2   23437
Cards
Entrez_Gene (NCBI)AKR1E2    aldo-keto reductase family 1 member E2
AliasesAKR1CL2; AKRDC1; HTSP1; LoopADR; 
TAKR; hTSP; htAKR
GeneCards (Weizmann)AKR1E2
Ensembl hg19 (Hinxton)ENSG00000165568 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165568 [Gene_View]  ENSG00000165568 [Sequence]  chr10:4826177-4848059 [Contig_View]  AKR1E2 [Vega]
ICGC DataPortalENSG00000165568
TCGA cBioPortalAKR1E2
AceView (NCBI)AKR1E2
Genatlas (Paris)AKR1E2
SOURCE (Princeton)AKR1E2
Genetics Home Reference (NIH)AKR1E2
Genomic and cartography
GoldenPath hg38 (UCSC)AKR1E2  -     chr10:4826177-4848059 +  10p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKR1E2  -     10p15.1   [Description]    (hg19-Feb_2009)
GoldenPathAKR1E2 - 10p15.1 [CytoView hg19]  AKR1E2 - 10p15.1 [CytoView hg38]
ImmunoBaseENSG00000165568
Genome Data Viewer NCBIAKR1E2 [Mapview hg19]  
OMIM617451   
Gene and transcription
Genbank (Entrez)AB040820 AB040821 AB040822 AB055603 AF263242
RefSeq transcript (Entrez)NM_001040177 NM_001271021 NM_001271025 NM_031436
Consensus coding sequences : CCDS (NCBI)AKR1E2
Gene ExpressionAKR1E2 [ NCBI-GEO ]   AKR1E2 [ EBI - ARRAY_EXPRESS ]   AKR1E2 [ SEEK ]   AKR1E2 [ MEM ]
Gene Expression Viewer (FireBrowse)AKR1E2 [ Firebrowse - Broad ]
GenevisibleExpression of AKR1E2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83592
GTEX Portal (Tissue expression)AKR1E2
Human Protein AtlasENSG00000165568-AKR1E2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JD6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JD6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JD6
PhosPhoSitePlusQ96JD6
Domaine pattern : Prosite (Expaxy)ALDOKETO_REDUCTASE_1 (PS00798)    ALDOKETO_REDUCTASE_2 (PS00062)   
Domains : Interpro (EBI)Aldo/ket_reductase_CS    Aldo/keto_reductase    NADP_OxRdtase_dom    NADP_OxRdtase_dom_sf   
Domain families : Pfam (Sanger)Aldo_ket_red (PF00248)   
Domain families : Pfam (NCBI)pfam00248   
Conserved Domain (NCBI)AKR1E2
SuperfamilyQ96JD6
AlphaFold pdb e-kbQ96JD6   
Human Protein Atlas [tissue]ENSG00000165568-AKR1E2 [tissue]
HPRD07472
Protein Interaction databases
DIP (DOE-UCLA)Q96JD6
IntAct (EBI)Q96JD6
BioGRIDAKR1E2
STRING (EMBL)AKR1E2
ZODIACAKR1E2
Ontologies - Pathways
QuickGOQ96JD6
Ontology : AmiGOalditol:NADP+ 1-oxidoreductase activity  cytosol  oxidoreductase activity  D-threo-aldose 1-dehydrogenase activity  1,5-anhydro-D-fructose reductase activity  
Ontology : EGO-EBIalditol:NADP+ 1-oxidoreductase activity  cytosol  oxidoreductase activity  D-threo-aldose 1-dehydrogenase activity  1,5-anhydro-D-fructose reductase activity  
NDEx NetworkAKR1E2
Atlas of Cancer Signalling NetworkAKR1E2
Wikipedia pathwaysAKR1E2
Orthology - Evolution
OrthoDB83592
GeneTree (enSembl)ENSG00000165568
Phylogenetic Trees/Animal Genes : TreeFamAKR1E2
Homologs : HomoloGeneAKR1E2
Homology/Alignments : Family Browser (UCSC)AKR1E2
Gene fusions - Rearrangements
Fusion : MitelmanFARS2/AKR1E2 [6p25.1/10p15.1]  
Fusion : QuiverAKR1E2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKR1E2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKR1E2
dbVarAKR1E2
ClinVarAKR1E2
MonarchAKR1E2
1000_GenomesAKR1E2 
Exome Variant ServerAKR1E2
GNOMAD BrowserENSG00000165568
Varsome BrowserAKR1E2
ACMGAKR1E2 variants
VarityQ96JD6
Genomic Variants (DGV)AKR1E2 [DGVbeta]
DECIPHERAKR1E2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAKR1E2 
Mutations
ICGC Data PortalAKR1E2 
TCGA Data PortalAKR1E2 
Broad Tumor PortalAKR1E2
OASIS PortalAKR1E2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKR1E2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAKR1E2
Mutations and Diseases : HGMDAKR1E2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAKR1E2
DgiDB (Drug Gene Interaction Database)AKR1E2
DoCM (Curated mutations)AKR1E2
CIViC (Clinical Interpretations of Variants in Cancer)AKR1E2
Cancer3DAKR1E2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617451   
Orphanet
DisGeNETAKR1E2
MedgenAKR1E2
Genetic Testing Registry AKR1E2
NextProtQ96JD6 [Medical]
GENETestsAKR1E2
Target ValidationAKR1E2
Huge Navigator AKR1E2 [HugePedia]
ClinGenAKR1E2
Clinical trials, drugs, therapy
MyCancerGenomeAKR1E2
Protein Interactions : CTDAKR1E2
Pharm GKB GenePA165548224
PharosQ96JD6
Clinical trialAKR1E2
Miscellaneous
canSAR (ICR)AKR1E2
HarmonizomeAKR1E2
DataMed IndexAKR1E2
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAKR1E2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 14:59:02 CEST 2021

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