• Gene id: 84288

Gene Summary

• Gene Symbol: EFCAB2   Gene   UCSC   Ensembl
• Aliases: CFAP200, DRC8
• Gene name: EF-hand calcium binding domain 2
• Alternate names: dynein regulatory complex protein 8, EF-hand calcium-binding domain-containing protein 2, dynein regulatory complex subunit 8,
• Gene location: 1q44 (122167718: 122203470)     Exons: 14     NC_000012.12
• Gene summary(Entrez): The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]

Protein Summary

• Protein general information: Q5VUJ9  
  • Name: Dynein regulatory complex protein 8 (EF hand calcium binding domain containing protein 2)
  • Length: 269  
  • Mass: 29714
• Sequence:

  MLGPGQVRLRPRVWRDKAGGRVADGASGLPPARGSWRETGTGRALGASSPPRPAQGSSSPGIQSGPSSRPGSPRG
  AEQAGTPRPRLSLGISQATGSAARWRTRRTGKGLGYNSDEIRPRTLLIEHLMEGGRRDHHTMTVLWGTQEIIVAE
  FHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKY
  RPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEDGVSLRRPG

• Structural information:
  • Protein Domains: (150..18-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (228..26-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR002048  
  • Prosite: PS50222
  • STRING: ENSP00000355480
• Other Databases: GeneCards:  EFCAB2  Malacards:  EFCAB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq