• Gene id: 84263

Gene Summary

• Gene Symbol: HSDL2   Gene   UCSC   Ensembl
• Aliases: C9orf99, SDR13C1
• Gene name: hydroxysteroid dehydrogenase like 2
• Alternate names: hydroxysteroid dehydrogenase-like protein 2, short chain dehydrogenase/reductase family 13C member 1,
• Gene location: 9q32 (112379908: 112472409)     Exons: 8     NC_000009.12

Protein Summary

• Protein general information: Q6YN16  
  • Name: Hydroxysteroid dehydrogenase like protein 2 (EC 1. . . ) (Short chain dehydrogenase/reductase family 13C member 1)
  • Length: 418  
  • Mass: 45395
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MLPNTGRLAGCTVFITGASRGIGKAIALKAAKDGANIVIAAKTAQPHPKLLGTIYTAAEEIEAVGGKALPCIVDV
  RDEQQISAAVEKAIKKFGGIDILVNNASAISLTNTLDTPTKRLDLMMNVNTRGTYLASKACIPYLKKSKVAHILN
  ISPPLNLNPVWFKQHCAYTIAKYGMSMYVLGMAEEFKGEIAVNALWPKTAIHTAAMDMLGGPGIESQCRKVDIIA
  DAAYSIFQKPKSFTGNFVIDENILKEEGIENFDVYAIKPGHPLQPDFFLDEYPEAVSKKVESTGAVPEFKEEKLQ
  LQPKPRSGAVEETFRIVKDSLSDDVVKATQAIYLFELSGEDGGTWFLDLKSKGGNVGYGEPSDQADVVMSMTTDD
  FVKMFSGKLKPTMAFMSGKLKIKGNMALAIKLEKLMNQMNARL

• Structural information:
  • Protein Domains: (306..41-)
    (/note="SCP2"-)
  • Interpro: IPR036291  IPR020904  IPR003033  IPR036527  IPR002347  
  • Prosite: PS00061
  • PDB: 3KVO
  • PDBsum: 3KVO
  • STRING: ENSP00000381785
• Other Databases: GeneCards:  HSDL2  Malacards:  HSDL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq