• Gene id: 374955

Gene Summary

• Gene Symbol: SPATA21   Gene   UCSC   Ensembl
• Aliases: spergen-2, spergen2
• Gene name: spermatogenesis associated 21
• Alternate names: spermatogenesis-associated protein 21,
• Gene location: 1p36.13 (16437841: 16395605)     Exons: 19     NC_000001.11
• OMIM: 613569

Protein Summary

• Protein general information: Q7Z572  
  • Name: Spermatogenesis associated protein 21
  • Length: 469  
  • Mass: 52207
• Sequence:

  MDNRNTQMYTEEEKTVNPFLPSTPGPKKAKGGGEAVETHPAPGPLPPPEVRDIGERREPDRAQQQPQKPAVAAGT
  QSLGNFRQGFMKCLLEVEKMEASHRRASKARSQTAQKSPRTLTPVPTSAPSLPQTPASVPASGPSWARLPAPGPE
  PAPMGAPVPTSMPCPVLLGPALDLGWRRMELLHQSSERTLSYAKARQEPEEQSLQKLYQNREKSEEQLTLKQEEA
  FRSYFEIFNGPGEVDAQSLKNILLLMGFSVTLAQVEDALMSADVNGDGRVDFKDFLAVMTDTRRFFCSVEQNALS
  DMAPHNPHTLLFEILSLLVEMLALPEAVLEEITNYYQKKLKEGTCKAQEMEAAVGRLRLQKLPYNPQQEESSEVP
  ERKVLSILSRLKQQNYAPNLQSPYAQVPCILLCPQLDKKMVRRQPSNHYALDQCTPPGLDPDIRSPFFQSGSQGN
  REHNSDSRKWLSSVPARTH

• Structural information:
  • Protein Domains: (255..29-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • STRING: ENSP00000335612
• Other Databases: GeneCards:  SPATA21  Malacards:  SPATA21

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq