• Gene id: 387885

Gene Summary

• Gene Symbol: CFAP73   Gene   UCSC   Ensembl
• Aliases: CCDC42B, MIA2
• Gene name: cilia and flagella associated protein 73
• Alternate names: cilia- and flagella-associated protein 73, coiled-coil domain containing 42B, coiled-coil domain-containing protein 42B,
• Gene location: 12q24.13 (113149161: 113159275)     Exons: 9     NC_000012.12
• OMIM: 0

Protein Summary

• Protein general information: A6NFT4  
  • Name: Cilia and flagella associated protein 73 (Coiled coil domain containing protein 42B)
  • Length: 308  
  • Mass: 35914
• Sequence:

  MAVPWEEYFRLALQEKLSTKLPEQAEDHVPPVLRLLEKRQELVDADQALQAQKEVFRTKTAALKQRWEQLEQKER
  ELKGSFIRFDKFLQDSEARRNRALRRAAEERHQAGRREVEALRLWTQLQELRREHARLQRRLKRLEPCARLLEQA
  LELLPGFQEVPELVARFDGLAETQAALRLREREQLAELEAARARLQQLRDAWPDEVLAQGQRRAQLQERLEAARE
  RTLQWESKWIQIQNTAAEKTLLLGRSRMAVLNLFQLVCQHQGQPPTLDIEDTEGQLEHVKLFMQDLSAMLAGLGQ
  AEPAAPAS

• Structural information:
  • Interpro: IPR025252  
  • STRING: ENSP00000333915
• Other Databases: GeneCards:  CFAP73  Malacards:  CFAP73

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000574	regulation of microtubule motor activity	ISS	biological process
GO:0036159	inner dynein arm assembly	ISS	biological process
GO:0097545	axonemal outer doublet	ISS	cellular component
GO:0031514	motile cilium	ISS	cellular component
GO:0070840	dynein complex binding	ISS	molecular function
GO:0003341	cilium movement	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
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)