• Gene id: 112942

Gene Summary

• Gene Symbol: CFAP36   Gene   UCSC   Ensembl
• Aliases: BARTL1, CCDC104
• Gene name: cilia and flagella associated protein 36
• Alternate names: cilia- and flagella-associated protein 36, coiled-coil domain containing 104, coiled-coil domain-containing protein 104,
• Gene location: 2p16.1 (55519594: 55545079)     Exons: 12     NC_000002.12

Protein Summary

• Protein general information: Q96G28  
  • Name: Cilia and flagella associated protein 36 (Coiled coil domain containing protein 104)
  • Length: 342  
  • Mass: 39447
  • Tissue specificity: Expressed in several human tissues including brain, testis, heart, lung, pancreas and spleen (at protein level). {ECO
• Sequence:

  MAAEEEDEVEWVVESIAGFLRGPDWSIPILDFVEQKCEVFDDEEESKLTYTEIHQEYKELVEKLLEGYLKEIGIN
  EDQFQEACTSPLAKTHTSQAILQPVLAAEDFTIFKAMMVQKNIEMQLQAIRIIQERNGVLPDCLTDGSDVVSDLE
  HEEMKILREVLRKSKEEYDQEEERKRKKQLSEAKTEEPTVHSSEAAIMNNSQGDGEHFAHPPSEVKMHFANQSIE
  PLGRKVERSETSSLPQKDLKIPGLEHASIEGPIANLSVLGTEELRQREHYLKQKRDKLMSMRKDMRTKQIQNMEQ
  KGKPTGEVEEMTEKPEMTAEEKQTLLKRRLLAEKLKEEVINK

• Structural information:
  • Interpro: IPR023379  IPR042541  IPR038888  
  • DIP: 57013
  • STRING: ENSP00000342699
• Other Databases: GeneCards:  CFAP36  Malacards:  CFAP36

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097546	ciliary base	IBA	cellular component
GO:0005930	axoneme	IBA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0097546	ciliary base	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0047485	protein N-terminus binding	IMP	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray