• Gene id: 80173

Gene Summary

• Gene Symbol: IFT74   Gene   UCSC   Ensembl
• Aliases: CCDC2, CMG-1, CMG1
• Gene name: intraflagellar transport 74
• Alternate names: intraflagellar transport protein 74 homolog, capillary morphogenesis gene 1 protein, capillary morphogenesis protein 1, coiled-coil domain containing 2, coiled-coil domain-containing protein 2, intraflagellar transport 74 homolog,
• Gene location: 9p21.2 (28299320: 28825893)     Exons: 19     NC_000007.14
• Gene summary(Entrez): This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cili
• OMIM: 608040

Protein Summary

• Protein general information: Q96LB3  
  • Name: Intraflagellar transport protein 74 homolog (Capillary morphogenesis gene 1 protein) (CMG 1) (Coiled coil domain containing protein 2)
  • Length: 600  
  • Mass: 69239
  • Tissue specificity: Highly expressed in adult and fetal kidney and expressed at lower level in adult heart, placenta, lung, liver and pancreas, and in fetal heart, lung and liver. Little to no expression was detected in adult brain and skeletal muscle or
• Sequence:

  MASNHKSSAARPVSRGGVGLTGRPPSGIRPLSGNIRVATAMPPGTARPGSRGCPIGTGGVLSSQIKVAHRPVTQQ
  GLTGMKTGTKGPQRQILDKSYYLGLLRSKISELTTEVNKLQKGIEMYNQENSVYLSYEKRAETLAVEIKELQGQL
  ADYNMLVDKLNTNTEMEEVMNDYNMLKAQNDRETQSLDVIFTERQAKEKQIRSVEEEIEQEKQATDDIIKNMSFE
  NQVKYLEMKTTNEKLLQELDTLQQQLDSQNMKKESLEAEIAHSQVKQEAVLLHEKLYELESHRDQMIAEDKSIGS
  PMEEREKLLKQIKDDNQEIASMERQLTDTKEKINQFIEEIRQLDMDLEEHQGEMNQKYKELKKREEHMDTFIETF
  EETKNQELKRKAQIEANIVALLEHCSRNINRIEQISSITNQELKMMQDDLNFKSTEVQKSQSTAQNLTSDIQRLQ
  LDLQKMELLESKMTEEQHSLKSKIKQMTTDLEIYNDLPALKSSGEEKIKKLHQERMILSTHRNAFKKIMEKQNIE
  YEALKTQLQENETHSQLTNLERKWQHLEQNNFAMKEFIATKSQESDYQPIKKNVTKQIAEYNKTIVDALHSTSGN

• Structural information:
  • Interpro: IPR029602  
  • STRING: ENSP00000404122
• Other Databases: GeneCards:  IFT74  Malacards:  IFT74

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IBA	cellular component
GO:0042073	intraciliary transport	IBA	biological process
GO:0005929	cilium	IBA	cellular component
GO:0030992	intraciliary transport particle B	IBA	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	IBA	biological process
GO:0048487	beta-tubulin binding	IBA	molecular function
GO:0048487	beta-tubulin binding	IDA	molecular function
GO:0060271	cilium assembly	IMP	biological process
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	IMP	biological process
GO:0042073	intraciliary transport	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0030992	intraciliary transport particle B	IEA	cellular component
GO:0048487	beta-tubulin binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	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:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0033630	positive regulation of cell adhesion mediated by integrin	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030992	intraciliary transport particle B	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003334	keratinocyte development	IEA	biological process
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0031514	motile cilium	ISS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	KEGG:H00418
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R