• Gene id: 51098

Gene Summary

• Gene Symbol: IFT52   Gene   UCSC   Ensembl
• Aliases: C20orf9, CGI-53, NGD2, NGD5
• Gene name: intraflagellar transport 52
• Alternate names: intraflagellar transport protein 52 homolog, protein NGD5 homolog,
• Gene location: 20q13.12 (43590936: 43647298)     Exons: 15     NC_000020.11
• Gene summary(Entrez): This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mut
• OMIM: 617094

Protein Summary

• Protein general information: Q9Y366  
  • Name: Intraflagellar transport protein 52 homolog (Protein NGD5 homolog)
  • Length: 437  
  • Mass: 49706
• Sequence:

  MEKELRSTILFNAYKKEIFTTNNGYKSMQKKLRSNWKIQSLKDEITSEKLNGVKLWITAGPREKFTAAEFEILKK
  YLDTGGDVFVMLGEGGESRFDTNINFLLEEYGIMVNNDAVVRNVYHKYFHPKEALVSSGVLNREISRAAGKAVPG
  IIDEESSGNNAQALTFVYPFGATLSVMKPAVAVLSTGSVCFPLNRPILAFYHSKNQGGKLAVLGSCHMFSDQYLD
  KEENSKIMDVVFQWLTTGDIHLNQIDAEDPEISDYMMLPYTATLSKRNRECLQESDEIPRDFTTLFDLSIFQLDT
  TSFHSVIEAHEQLNVKHEPLQLIQPQFETPLPTLQPAVFPPSFRELPPPPLELFDLDETFSSEKARLAQITNKCT
  EEDLEFYVRKCGDILGVTSKLPKDQQDAKHILEHVFFQVVEFKKLNQEHDIDTSETAFQNNF

• Structural information:
  • Interpro: IPR019196  IPR039975  
  • STRING: ENSP00000362121
• Other Databases: GeneCards:  IFT52  Malacards:  IFT52

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030992	intraciliary transport particle B	IBA	cellular component
GO:0005929	cilium	IBA	cellular component
GO:0005814	centriole	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0042073	intraciliary transport	IBA	biological process
GO:0035720	intraciliary anterograde transport	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005929	cilium	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:0005814	centriole	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0030992	intraciliary transport particle B	IEA	cellular component
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0097733	photoreceptor cell cilium	IEA	cellular component
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0001841	neural tube formation	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0044292	dendrite terminus	IEA	cellular component
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0070613	regulation of protein processing	IEA	biological process
GO:0097542	ciliary tip	IEA	cellular component
GO:0097546	ciliary base	IEA	cellular component
GO:0008022	protein C-terminus binding	ISS	molecular function
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0031514	motile cilium	ISS	cellular component
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Short-rib thoracic dysplasia	KEGG:H02157
Short-rib thoracic dysplasia	KEGG:H02157
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq