• Gene id: 151651

Gene Summary

• Gene Symbol: EFHB   Gene   UCSC   Ensembl
• Aliases: CFAP21
• Gene name: EF-hand domain family member B
• Alternate names: EF-hand domain-containing family member B, cilia and flagella associated protein 21,
• Gene location: 3p24.3 (19947513: 19879471)     Exons: 17     NC_000003.12

Protein Summary

• Protein general information: Q8N7U6  
  • Name: EF hand domain containing family member B
  • Length: 833  
  • Mass: 93802
• Sequence:

  MNMEIGHPHEGKDDLGDKRVIMGTKFPMELGIRVGLGKEDSRCGESPVVSNKCEGRMAPPETKFPLSKGLEMGLE
  RQNISRTVMQRGSLGVDSVSASQGTKPSLLPGRMGLENESLLAGYTHERIIQPPLGRVCGSSQAAGSRRAPLASG
  PEGVEELVGKPAFVMEPRQEMEKESTCVLMKPNTEIKLPVEVDIGLTQAEGPDETKNTEPQMGLVIEPPQCQFAQ
  QHEQRKEAGNIESGVEPPDRIRPIYSGKFFDRTPCWPSAGKVIPVGYRVATCLTEKLPRLITPPEAKKYFNFRYP
  PAGVERVFYGRANDPQIAPYLTHGIRSKISVLANTLINPQPITTFQQKIKDKKESIYLSNRRAPLGKSHDQAPGL
  PKGMDTTNTTFGTAVIKEYSAKDVVNPPKSYEEVFKEGNEGHDLYVVSHNDYYAGEAKNRKYNPSSFHRCSVYGV
  PTPHFNDGRAMAKSLYWLHELQMKRGAKFVSKRADDFKEKFQHKLGRVLDPIAETMNVPPDCTFGACLRPEEYGV
  GDLIHNRLPDEYLRGKDRQRALIAAVRHHLKKVNYQKFDTLLAAFRHYDKKGDGMIDKDELQEACDQANLSLDDK
  LLDQLFDYCDVDNDGFINYLEFANFLNWKDKMLLKEYEERVIIKGRKPDCVNPTEANVEEPEQTLLIKPEDIVLK
  EAGSTEKTLRTLLRPSDKVSNYYKTTSSEINAIVGAIPSTCYPICGVPTIRSDIPAPRIRRISDRTNYGEEGSAY
  SLLYPTIFARKGVFERDFFKTRSKEEIAEILCNIGVKLSDEEFENVWNLASKKHHRGEVCVENIRNVLDELRHAD
  RIKCKTLM

• Structural information:
  • Protein Domains: (561..59-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (597..63-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR040193  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • STRING: ENSP00000295824
• Other Databases: GeneCards:  EFHB  Malacards:  EFHB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061891	calcium ion sensor activity	IMP	molecular function
GO:0032091	negative regulation of protein binding	IMP	biological process
GO:0070884	regulation of calcineurin-NFAT signaling cascade	IMP	biological process
GO:2001256	regulation of store-operated calcium entry	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
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)