• Gene id: 27440

Gene Summary

• Gene Symbol: HDHD5   Gene   UCSC   Ensembl
• Aliases: CECR5
• Gene name: haloacid dehalogenase like hydrolase domain containing 5
• Alternate names: haloacid dehalogenase-like hydrolase domain-containing 5, cat eye syndrome chromosome region, candidate 5, cat eye syndrome critical region protein 5,
• Gene location: 22q11.1 (17165286: 17137519)     Exons: 10     NC_000022.11
• OMIM: 0

Protein Summary

• Protein general information: Q9BXW7  
  • Name: Haloacid dehalogenase like hydrolase domain containing 5 (Cat eye syndrome critical region protein 5)
  • Length: 423  
  • Mass: 46321
  • Tissue specificity: Widely expressed.
• Sequence:

  MAAWGCVAALGAARGLCWRAARAAAGLQGRPARRCYAVGPAQSPPTFGFLLDIDGVLVRGHRVIPAALKAFRRLV
  NSQGQLRVPVVFVTNAGNILQHSKAQELSALLGCEVDADQVILSHSPMKLFSEYHEKRMLVSGQGPVMENAQGLG
  FRNVVTVDELRMAFPLLDMVDLERRLKTTPLPRNDFPRIEGVLLLGEPVRWETSLQLIMDVLLSNGSPGAGLATP
  PYPHLPVLASNMDLLWMAEAKMPRFGHGTFLLCLETIYQKVTGKELRYEGLMGKPSILTYQYAEDLIRRQAERRG
  WAAPIRKLYAVGDNPMSDVYGANLFHQYLQKATHDGAPELGAGGTRQQQPSASQSCISILVCTGVYNPRNPQSTE
  PVLGGGEPPFHGHRDLCFSPGLMEASHVVNDVNEAVQLVFRKEGWALE

• Structural information:
  • Interpro: IPR029621  IPR036412  IPR006357  IPR006353  IPR023214  
  • STRING: ENSP00000337358
• Other Databases: GeneCards:  HDHD5  Malacards:  HDHD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046474	glycerophospholipid biosynthetic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R