Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AKR1C2 (aldo-keto reductase family 1, member C2)

Identity

Alias_namesbile acid binding protein
3-alpha hydroxysteroid dehydrogenase
Alias_symbol (synonym)DD
BABP
DD2
HAKRD
MCDR2
Other aliasAKR1C-pseudo
DD-2
DD/BABP
DDH2
HBAB
SRXY8
TDD
HGNC (Hugo) AKR1C2
LocusID (NCBI) 1646
Atlas_Id 53095
Location 10p15.1  [Link to chromosome band 10p15]
Location_base_pair Starts at 5042103 and ends at 5046206 bp from pter ( according to hg19-Feb_2009)

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)AKR1C2   385
Cards
Entrez_Gene (NCBI)AKR1C2  1646  aldo-keto reductase family 1, member C2
AliasesAKR1C-pseudo; BABP; DD; DD-2; 
DD/BABP; DD2; DDH2; HAKRD; HBAB; MCDR2; SRXY8; TDD
GeneCards (Weizmann)AKR1C2
Ensembl hg19 (Hinxton)ENSG00000151632 [Gene_View]  chr10:5042103-5046206 [Contig_View]  AKR1C2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000151632 [Gene_View]  chr10:5042103-5046206 [Contig_View]  AKR1C2 [Vega]
ICGC DataPortalENSG00000151632
TCGA cBioPortalAKR1C2
AceView (NCBI)AKR1C2
Genatlas (Paris)AKR1C2
WikiGenes1646
SOURCE (Princeton)AKR1C2
Genetics Home Reference (NIH)AKR1C2
Genomic and cartography
GoldenPath hg19 (UCSC)AKR1C2  -     chr10:5042103-5046206 -  10p15.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AKR1C2  -     10p15.1   [Description]    (hg38-Dec_2013)
EnsemblAKR1C2 - 10p15.1 [CytoView hg19]  AKR1C2 - 10p15.1 [CytoView hg38]
Mapping of homologs : NCBIAKR1C2 [Mapview hg19]  AKR1C2 [Mapview hg38]
OMIM600450   614279   
Gene and transcription
Genbank (Entrez)AB021654 AB031084 AB209017 AK091194 AK290304
RefSeq transcript (Entrez)NM_001135241 NM_001321027 NM_001354 NM_205845
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_031852 NT_008705 NW_004929370
Consensus coding sequences : CCDS (NCBI)AKR1C2
Cluster EST : UnigeneHs.734597 [ NCBI ]
CGAP (NCI)Hs.734597
Alternative Splicing GalleryENSG00000151632
Gene ExpressionAKR1C2 [ NCBI-GEO ]   AKR1C2 [ EBI - ARRAY_EXPRESS ]   AKR1C2 [ SEEK ]   AKR1C2 [ MEM ]
Gene Expression Viewer (FireBrowse)AKR1C2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1646
GTEX Portal (Tissue expression)AKR1C2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52895   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP52895  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP52895
Splice isoforms : SwissVarP52895
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.-1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   
PhosPhoSitePlusP52895
Domaine pattern : Prosite (Expaxy)ALDOKETO_REDUCTASE_2 (PS00062)    ALDOKETO_REDUCTASE_3 (PS00063)   
Domains : Interpro (EBI)Aldo/ket_red/Kv-b    Aldo/ket_reductase_CS    Aldo/keto_reductase    NADP_OxRdtase_dom   
Domain families : Pfam (Sanger)Aldo_ket_red (PF00248)   
Domain families : Pfam (NCBI)pfam00248   
Conserved Domain (NCBI)AKR1C2
DMDM Disease mutations1646
Blocks (Seattle)AKR1C2
PDB (SRS)1IHI    1J96    1XJB    2HDJ    2IPJ    4JQ1    4JQ2    4JQ3    4JQ4    4JQA    4JTQ    4JTR    4L1W    4L1X   
PDB (PDBSum)1IHI    1J96    1XJB    2HDJ    2IPJ    4JQ1    4JQ2    4JQ3    4JQ4    4JQA    4JTQ    4JTR    4L1W    4L1X   
PDB (IMB)1IHI    1J96    1XJB    2HDJ    2IPJ    4JQ1    4JQ2    4JQ3    4JQ4    4JQA    4JTQ    4JTR    4L1W    4L1X   
PDB (RSDB)1IHI    1J96    1XJB    2HDJ    2IPJ    4JQ1    4JQ2    4JQ3    4JQ4    4JQA    4JTQ    4JTR    4L1W    4L1X   
Structural Biology KnowledgeBase1IHI    1J96    1XJB    2HDJ    2IPJ    4JQ1    4JQ2    4JQ3    4JQ4    4JQA    4JTQ    4JTR    4L1W    4L1X   
SCOP (Structural Classification of Proteins)1IHI    1J96    1XJB    2HDJ    2IPJ    4JQ1    4JQ2    4JQ3    4JQ4    4JQA    4JTQ    4JTR    4L1W    4L1X   
CATH (Classification of proteins structures)1IHI    1J96    1XJB    2HDJ    2IPJ    4JQ1    4JQ2    4JQ3    4JQ4    4JQA    4JTQ    4JTR    4L1W    4L1X   
SuperfamilyP52895
Human Protein AtlasENSG00000151632
Peptide AtlasP52895
HPRD11857
IPIIPI00005668   IPI00910990   IPI00455167   IPI00843904   IPI00887673   
Protein Interaction databases
DIP (DOE-UCLA)P52895
IntAct (EBI)P52895
FunCoupENSG00000151632
BioGRIDAKR1C2
STRING (EMBL)AKR1C2
ZODIACAKR1C2
Ontologies - Pathways
QuickGOP52895
Ontology : AmiGOalditol:NADP+ 1-oxidoreductase activity  cytoplasm  prostaglandin metabolic process  G-protein coupled receptor signaling pathway  digestion  steroid metabolic process  positive regulation of cell proliferation  oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor  phenanthrene 9,10-monooxygenase activity  epithelial cell differentiation  carboxylic acid binding  bile acid binding  progesterone metabolic process  daunorubicin metabolic process  doxorubicin metabolic process  ketosteroid monooxygenase activity  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity  positive regulation of protein kinase B signaling  oxidation-reduction process  cellular response to jasmonic acid stimulus  cellular response to prostaglandin D stimulus  
Ontology : EGO-EBIalditol:NADP+ 1-oxidoreductase activity  cytoplasm  prostaglandin metabolic process  G-protein coupled receptor signaling pathway  digestion  steroid metabolic process  positive regulation of cell proliferation  oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor  phenanthrene 9,10-monooxygenase activity  epithelial cell differentiation  carboxylic acid binding  bile acid binding  progesterone metabolic process  daunorubicin metabolic process  doxorubicin metabolic process  ketosteroid monooxygenase activity  trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity  positive regulation of protein kinase B signaling  oxidation-reduction process  cellular response to jasmonic acid stimulus  cellular response to prostaglandin D stimulus  
Pathways : KEGGSteroid hormone biosynthesis    Metabolism of xenobiotics by cytochrome P450    Chemical carcinogenesis   
NDEx NetworkAKR1C2
Atlas of Cancer Signalling NetworkAKR1C2
Wikipedia pathwaysAKR1C2
Orthology - Evolution
OrthoDB1646
GeneTree (enSembl)ENSG00000151632
Phylogenetic Trees/Animal Genes : TreeFamAKR1C2
HOVERGENP52895
HOGENOMP52895
Homologs : HomoloGeneAKR1C2
Homology/Alignments : Family Browser (UCSC)AKR1C2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKR1C2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKR1C2
dbVarAKR1C2
ClinVarAKR1C2
1000_GenomesAKR1C2 
Exome Variant ServerAKR1C2
ExAC (Exome Aggregation Consortium)AKR1C2 (select the gene name)
Genetic variants : HAPMAP1646
Genomic Variants (DGV)AKR1C2 [DGVbeta]
DECIPHER (Syndromes)10:5042103-5046206  ENSG00000151632
CONAN: Copy Number AnalysisAKR1C2 
Mutations
ICGC Data PortalAKR1C2 
TCGA Data PortalAKR1C2 
Broad Tumor PortalAKR1C2
OASIS PortalAKR1C2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKR1C2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAKR1C2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AKR1C2
DgiDB (Drug Gene Interaction Database)AKR1C2
DoCM (Curated mutations)AKR1C2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKR1C2 (select a term)
intoGenAKR1C2
Cancer3DAKR1C2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600450    614279   
Orphanet23440   
MedgenAKR1C2
Genetic Testing Registry AKR1C2
NextProtP52895 [Medical]
TSGene1646
GENETestsAKR1C2
Huge Navigator AKR1C2 [HugePedia]
snp3D : Map Gene to Disease1646
BioCentury BCIQAKR1C2
ClinGenAKR1C2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1646
Chemical/Pharm GKB GenePA24678
Clinical trialAKR1C2
Miscellaneous
canSAR (ICR)AKR1C2 (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKR1C2
EVEXAKR1C2
GoPubMedAKR1C2
iHOPAKR1C2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:05 CEST 2017

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