AKR1C2

Protein identityUniProt · HPA

UniProt accession

P52895

Gene

AKR1C2

Ensembl

ENSG00000151632

Chromosome

10

Canonical length

323 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli fibrillar center,Endoplasmic reticulum,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

323 residues, UniProt reviewed canonical sequence.

>P52895|AKR1C2
     1  MDSKYQCVKL NDGHFMPVLG FGTYAPAEVP KSKALEAVKL AIEAGFHHID SAHVYNNEEQ
    61  VGLAIRSKIA DGSVKREDIF YTSKLWSNSH RPELVRPALE RSLKNLQLDY VDLYLIHFPV
   121  SVKPGEEVIP KDENGKILFD TVDLCATWEA MEKCKDAGLA KSIGVSNFNH RLLEMILNKP
   181  GLKYKPVCNQ VECHPYFNQR KLLDFCKSKD IVLVAYSALG SHREEPWVDP NSPVLLEDPV
   241  LCALAKKHKR TPALIALRYQ LQRGVVVLAK SYNEQRIRQN VQVFEFQLTS EEMKAIDGLN
   301  RNVRYLTLDI FAGPPNYPFS DEY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AKR1C2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

449 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AKR1C2.

Disease | AllUniProt

Conditions AKR1C2 is implicated in, by any mechanism.

• 46,XY sex reversal 8 (SRXY8) MIM:614279

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 121 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.46

gnomAD pLI

0

gnomAD missense Z

-0.87

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to jasmonic acid stimulus
• cellular response to prostaglandin D stimulus
• daunorubicin metabolic process
• digestion
• doxorubicin metabolic process
• epithelial cell differentiation
• G protein-coupled receptor signaling pathway
• positive regulation of cell population proliferation
• positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
• progesterone metabolic process
• prostaglandin metabolic process
• steroid metabolic process

Molecular functions

• 3-alpha-hydroxysteroid 3-dehydrogenase [NAD(P)+] activity
• aldose reductase (NADPH) activity
• androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity
• androsterone dehydrogenase [NAD(P)+] activity
• bile acid binding
• carboxylic acid binding
• estradiol 17-beta-dehydrogenase [NAD(P)+] activity
• indanol dehydrogenase activity
• ketosteroid monooxygenase activity
• oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor
• trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• Aldo/keto reductase, conserved site
• Aldo-keto reductase
• NADP-dependent oxidoreductase domain
• NAD(P)-dependent oxidoreductase domain superfamily
• Aldo-keto reductase family 1 member C
• Aldo/keto reductase family

KeywordsUniProt

• Cytoplasm
• Lipid metabolism
• NADP
• Oxidoreductase
• Steroid metabolism

InteractionsUniProt · HPA

Protein binding partners of AKR1C2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• AKR1C1
• AKR1C3