• Gene id: 57168

Gene Summary

• Gene Symbol: ASPHD2   Gene   UCSC   Ensembl
• Gene name: aspartate beta-hydroxylase domain containing 2
• Alternate names: aspartate beta-hydroxylase domain-containing protein 2,
• Gene location: 22q12.1 (77779623: 77879539)     Exons: 17     NC_000001.11

Protein Summary

• Protein general information: Q6ICH7  
  • Name: Aspartate beta hydroxylase domain containing protein 2 (EC 1.14.11. )
  • Length: 369  
  • Mass: 41699
• Sequence:

  MVWAPLGPPRTDCLTLLHTPSKDSPKMSLEWLVAWSWSLDGLRDCIATGIQSVRDCDTTAVITVACLLVLFVWYC
  YHVGREQPRPYVSVNSLMQAADANGLQNGYVYCQSPECVRCTHNEGLNQKLYHNLQEYAKRYSWSGMGRIHKGIR
  EQGRYLNSRPSIQKPEVFFLPDLPTTPYFSRDAQKHDVEVLERNFQTILCEFETLYKAFSNCSLPQGWKMNSTPS
  GEWFTFYLVNQGVCVPRNCRKCPRTYRLLGSLRTCIGNNVFGNACISVLSPGTVITEHYGPTNIRIRCHLGLKTP
  NGCELVVGGEPQCWAEGRCLLFDDSFLHAAFHEGSAEDGPRVVFMVDLWHPNVAAAERQALDFIFAPGR

• Structural information:
  • Interpro: IPR007803  IPR027443  
  • STRING: ENSP00000215906
• Other Databases: GeneCards:  ASPHD2  Malacards:  ASPHD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018193	peptidyl-amino acid modification	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq