Human Gene AKR1C2 (ENST00000421196.7) from GENCODE V44
  Description: Homo sapiens aldo-keto reductase family 1 member C2 (AKR1C2), transcript variant 4, mRNA. (from RefSeq NM_001321027)
RefSeq Summary (NM_001321027): This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000421196.7
Gencode Gene: ENSG00000151632.18
Transcript (Including UTRs)
   Position: hg38 chr10:4,989,434-5,003,860 Size: 14,427 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr10:4,989,996-5,003,835 Size: 13,840 Coding Exon Count: 8 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:4,989,434-5,003,860)mRNA (may differ from genome)Protein (297 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AKR1C2
Diseases sorted by gene-association score: 46xy sex reversal 8* (1550), obesity, hyperphagia, and developmental delay* (354), cauda equina syndrome (7), bacillary angiomatosis (7), parasitic protozoa infectious disease (6), prostate cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.72 RPKM in Bladder
Total median expression: 285.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.1025-0.044 Picture PostScript Text
3' UTR -181.40562-0.323 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001395 - Aldo/ket_red
IPR018170 - Aldo/ket_reductase_CS
IPR020471 - Aldo/keto_reductase_subgr
IPR023210 - NADP_OxRdtase_dom

Pfam Domains:
PF00248 - Aldo/keto reductase family

ModBase Predicted Comparative 3D Structure on B4DK69
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016491 oxidoreductase activity

Biological Process:
GO:0055114 oxidation-reduction process


-  Descriptions from all associated GenBank mRNAs
  M33376 - Human pseudo-chlordecone reductase mRNA, complete cds.
CU677314 - Synthetic construct Homo sapiens gateway clone IMAGE:100018922 3' read AKR1C1 mRNA.
AK296419 - Homo sapiens cDNA FLJ52680 complete cds, highly similar to Aldo-keto reductase family 1 member C2 (EC 1.-.-.-).
AB209017 - Homo sapiens mRNA for aldo-keto reductase family 1, member C2 variant protein.
AK290304 - Homo sapiens cDNA FLJ75082 complete cds, highly similar to Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodioldehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroiddehydrogenase, type III) (AKR1C2), mRNA.
BC063574 - Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III), mRNA (cDNA clone MGC:70847 IMAGE:3877666), complete cds.
BC007024 - Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III), mRNA (cDNA clone MGC:12374 IMAGE:3681970), complete cds.
U05598 - Human dihydrodiol dehydrogenase mRNA, complete cds.
AK091194 - Homo sapiens cDNA FLJ33875 fis, clone CTONG2007007, highly similar to PROBABLE TRANS-1,2-DIHYDROBENZENE-1,2-DIOL DEHYDROGENASE (EC 1.3.1.20).
S68330 - chlordecone reductase homolog {clone HAKRd} [human, liver, mRNA, 1194 nt].
JD288135 - Sequence 269159 from Patent EP1572962.
AK308385 - Homo sapiens cDNA, FLJ98333.
KJ905725 - Synthetic construct Homo sapiens clone ccsbBroadEn_15395 AKR1C2 gene, encodes complete protein.
AB021654 - Homo sapiens mRNA for DD2/bile acid-binding protein/AKR1C2/3alpha-hydroxysteroid dehydrogenase type 3, complete cds.
AB031084 - Homo sapiens mRNA for bile acid-binding protein, complete cds.
BT006653 - Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) mRNA, complete cds.
DQ890680 - Synthetic construct clone IMAGE:100003310; FLH165045.01X; RZPDo839F02158D aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydr> (AKR1C2) gene, encodes complete protein.
KJ891035 - Synthetic construct Homo sapiens clone ccsbBroadEn_00429 AKR1C2 gene, encodes complete protein.
DQ893862 - Synthetic construct Homo sapiens clone IMAGE:100008322; FLH165041.01L; RZPDo839F02157D aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydr> (AKR1C2) gene, encodes complete protein.
CU675503 - Synthetic construct Homo sapiens gateway clone IMAGE:100017026 5' read AKR1C2 mRNA.
AK296686 - Homo sapiens cDNA FLJ53800 complete cds, highly similar to Aldo-keto reductase family 1 member C2 (EC 1.-.-.-).
LP747417 - Sequence 4 from Patent WO2018009939.
MB486557 - JP 2019531699-A/4: METHODS FOR DIAGNOSING AND TREATING CANCER.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00140 - Steroid hormone biosynthesis
hsa00980 - Metabolism of xenobiotics by cytochrome P450

-  Other Names for This Gene
  Alternate Gene Symbols: B4DK69, B4DK69_HUMAN, ENST00000421196.1, ENST00000421196.2, ENST00000421196.3, ENST00000421196.4, ENST00000421196.5, ENST00000421196.6, NM_001321027, uc009xhy.1, uc009xhy.2, uc009xhy.3, uc009xhy.4
UCSC ID: ENST00000421196.7
RefSeq Accession: NM_001321027
Protein: B4DK69 CCDS: CCDS81438.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.