• Gene id: 83592

Gene Summary

• Gene Symbol: AKR1E2   Gene   UCSC   Ensembl
• Aliases: AKR1CL2, AKRDC1, LoopADR, TAKR, hTSP, htAKR
• Gene name: aldo-keto reductase family 1 member E2
• Alternate names: 1,5-anhydro-D-fructose reductase, AF reductase, aldo-keto reductase family 1 member C-like protein 2, aldo-keto reductase family 1, member C-like 2, aldo-keto reductase loopADR, testis aldo-keto reductase, testis-specific protein,
• Gene location: 10p15.1 (4824553: 4908420)     Exons: 17     NC_000010.11
• Gene summary(Entrez): 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 group

Protein Summary

• Protein general information: Q96JD6  
  • Name: 1,5 anhydro D fructose reductase (AF reductase) (EC 1.1.1.263) (Aldo keto reductase family 1 member C like protein 2) (Aldo keto reductase family 1 member E2) (LoopADR) (Testis aldo keto reductase) (htAKR) (Testis specific protein) (hTSP)
  • Length: 320  
  • Mass: 36589
  • Tissue specificity: Specifically expressed in testis (PubMed
• Sequence:

  MGDIPAVGLSSWKASPGKVTEAVKEAIDAGYRHFDCAYFYHNEREVGAGIRCKIKEGAVRREDLFIATKLWCTCH
  KKSLVETACRKSLKALKLNYLDLYLIHWPMGFKPPHPEWIMSCSELSFCLSHPRVQDLPLDESNMVIPSDTDFLD
  TWEAMEDLVITGLVKNIGVSNFNHEQLERLLNKPGLRFKPLTNQIECHPYLTQKNLISFCQSRDVSVTAYRPLGG
  SCEGVDLIDNPVIKRIAKEHGKSPAQILIRFQIQRNVIVIPGSITPSHIKENIQVFDFELTQHDMDNILSLNRNL
  RLAMFPITKNHKDYPFHIEY

• Structural information:
  • Interpro: IPR018170  IPR020471  IPR023210  IPR036812  
  • Prosite: PS00798 PS00062
  • CDD: cd06660
  • STRING: ENSP00000298375
• Other Databases: GeneCards:  AKR1E2  Malacards:  AKR1E2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004032	alditol:NADP+ 1-oxidoreductase activity	IBA	molecular function
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0008106	alcohol dehydrogenase (NADP+) activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0050571	1,5-anhydro-D-fructose reductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray