• Gene id: 79180

Gene Summary

• Gene Symbol: EFHD2   Gene   UCSC   Ensembl
• Aliases: SWS1
• Gene name: EF-hand domain family member D2
• Alternate names: EF-hand domain-containing protein D2, EF hand domain containing 2, swiprosin 1, testicular tissue protein Li 62,
• Gene location: 1p36.21 (15409887: 15430338)     Exons: 4     NC_000001.11
• OMIM: 616450

Protein Summary

• Protein general information: Q96C19  
  • Name: EF hand domain containing protein D2 (Swiprosin 1)
  • Length: 240  
  • Mass: 26697
  • Tissue specificity: Found in lymphocytes; preferentially expressed in CD8+ cells. {ECO
• Sequence:

  MATDELATKLSRRLQMEGEGGGETPEQPGLNGAAAAAAGAPDEAAEALGSADCELSAKLLRRADLNQGIGEPQSP
  SRRVFNPYTEFKEFSRKQIKDMEKMFKQYDAGRDGFIDLMELKLMMEKLGAPQTHLGLKNMIKEVDEDFDSKLSF
  REFLLIFRKAAAGELQEDSGLCVLARLSEIDVSSEGVKGAKSFFEAKVQAINVSSRFEEEIKAEQEERKKQAEEM
  KQRKAAFKELQSTFK

• Structural information:
  • Protein Domains: (92..12-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (128..16-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR002048  IPR040365  
  • Prosite: PS50222
  • CDD: cd00051
  • PDB: 5H0P 5I2L 5I2O 5I2Q
  • PDBsum: 5H0P 5I2L 5I2O 5I2Q
  • STRING: ENSP00000365147
• Other Databases: GeneCards:  EFHD2  Malacards:  EFHD2

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
GO:0016020	membrane	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0045121	membrane raft	IEA	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			19 (6 controls, 13 cases)	Male infertility	GSE6872 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