• Gene id: 56912

Gene Summary

• Gene Symbol: IFT46   Gene   UCSC   Ensembl
• Aliases: C11orf2, C11orf60, CFAP32
• Gene name: intraflagellar transport 46
• Alternate names: intraflagellar transport protein 46 homolog, UPF0360, cilia and flagella associated protein 32, intraflagellar transport 46 homolog, intraflagellar transport protein IFT46,
• Gene location: 11q23.3 (118576455: 118544527)     Exons: 14     NC_000011.10

Protein Summary

• Protein general information: Q9NQC8  
  • Name: Intraflagellar transport protein 46 homolog
  • Length: 304  
  • Mass: 34286
• Sequence:

  MADNSSDECEEENNKEKKKTSQLTPQRGFSENEDDDDDDDDSSETDSDSDDDDEEHGAPLEGAYDPADYEHLPVS
  AEIKELFQYISRYTPQLIDLDHKLKPFIPDFIPAVGDIDAFLKVPRPDGKPDNLGLLVLDEPSTKQSDPTVLSLW
  LTENSKQHNITQHMKVKSLEDAEKNPKAIDTWIESISELHRSKPPATVHYTRPMPDIDTLMQEWSPEFEELLGKV
  SLPTAEIDCSLAEYIDMICAILDIPVYKSRIQSLHLLFSLYSEFKNSQHFKALAEGKKAFTPSSNSTSQAGDMET
  LTFS

• Structural information:
  • Interpro: IPR022088  
• Other Databases: GeneCards:  IFT46  Malacards:  IFT46

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:0042073	intraciliary transport	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0031514	motile cilium	IBA	cellular component
GO:0030992	intraciliary transport particle B	IBA	cellular component
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0042073	intraciliary transport	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005813	centrosome	IEA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0030992	intraciliary transport particle B	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0008022	protein C-terminus binding	ISS	molecular function
GO:0036064	ciliary basal body	ISS	colocalizes with
GO:0042073	intraciliary transport	ISS	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0050821	protein stabilization	ISS	biological process
GO:0031514	motile cilium	ISS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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