• Gene id: 57560

Gene Summary

• Gene Symbol: IFT80   Gene   UCSC   Ensembl
• Aliases: ATD2, FAP167, SRTD2, WDR56
• Gene name: intraflagellar transport 80
• Alternate names: intraflagellar transport protein 80 homolog, WD repeat domain 56, WD repeat-containing protein 56, intraflagellar transport 80 homolog,
• Gene location: 3q25.33 (160399224: 160256985)     Exons: 21     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encod
• OMIM: 611177

Protein Summary

• Protein general information: Q9P2H3  
  • Name: Intraflagellar transport protein 80 homolog (WD repeat containing protein 56)
  • Length: 777  
  • Mass: 88035
  • Tissue specificity: Isoform IFT80-L is widely expressed. {ECO
• Sequence:

  MRLKISLLKEPKHQELVSCVGWTTAEELYSCSDDHQIVKWNLLTSETTQIVKLPDDIYPIDFHWFPKSLGVKKQT
  QAESFVLTSSDGKFHLISKLGRVEKSVEAHCGAVLAGRWNYEGTALVTVGEDGQIKIWSKTGMLRSTLAQQGTPV
  YSVAWGPDSEKVLYTAGKQLIIKPLQPNAKVLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDSYGRPLYNS
  QPHEHPITSVAWAPDGELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAHVVE
  QHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFSTKNWNTPIIFDLKEGT
  VSLILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQTVSLSNDTIAIRDKADEKIIFLFEASTGKP
  LGDGKFLSHKNEILEIALDQKGLTNDRKIAFIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQ
  DTRFIVWYYPNTVYVDRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSK
  WEDAVRLCRFVKEQTMWACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKESKMAHILLFSGNIQEA
  EIVLLQAGLVYQAIQININLYNWERALELAVKYKTHVDTVLAYRQKFLETFGKQETNKRYLHYAEGLQIDWEKIK
  AKIEMEITKEREQSSSSQSSKSIGLKP

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50082 PS50294
  • STRING: ENSP00000312778
• Other Databases: GeneCards:  IFT80  Malacards:  IFT80

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0005929	cilium	IBA	cellular component
GO:0030992	intraciliary transport particle B	IBA	cellular component
GO:0030992	intraciliary transport particle B	ISS	cellular component
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:2000051	negative regulation of non-canonical Wnt signaling pathway	IEA	biological process
GO:0097731	9+0 non-motile cilium	IEA	cellular component
GO:0061975	articular cartilage development	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0035630	bone mineralization involved in bone maturation	IEA	biological process
GO:0008343	adult feeding behavior	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0003417	growth plate cartilage development	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0097500	receptor localization to non-motile cilium	IEA	biological process
GO:0060349	bone morphogenesis	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0033687	osteoblast proliferation	IEA	biological process
GO:0030992	intraciliary transport particle B	IEA	cellular component
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0003418	growth plate cartilage chondrocyte differentiation	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Short-rib thoracic dysplasia	KEGG:H02157
Asphyxiating thoracic dystrophy	KEGG:H00751
Short-rib thoracic dysplasia	KEGG:H02157
Asphyxiating thoracic dystrophy	KEGG:H00751
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