Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57560
Gene name	Intraflagellar transport 80
Gene symbol	IFT80
Synonyms (NCBI Gene)	ATD2CFAP167FAP167SRTD2WDR56
Chromosome	3
Chromosome location	3q25.33
Summary	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

135

Show/Hide all (135)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019786	hsa-miR-375	Microarray	20215506
MIRT1061093	hsa-let-7a	CLIP-seq
MIRT1061094	hsa-let-7b	CLIP-seq
MIRT1061095	hsa-let-7c	CLIP-seq
MIRT1061096	hsa-let-7d	CLIP-seq
MIRT1061097	hsa-let-7e	CLIP-seq
MIRT1061098	hsa-let-7f	CLIP-seq
MIRT1061099	hsa-let-7g	CLIP-seq
MIRT1061100	hsa-let-7i	CLIP-seq
MIRT1061101	hsa-miR-1298	CLIP-seq
MIRT1061102	hsa-miR-1303	CLIP-seq
MIRT1061103	hsa-miR-196a	CLIP-seq
MIRT1061104	hsa-miR-196b	CLIP-seq
MIRT1061105	hsa-miR-202	CLIP-seq
MIRT1061106	hsa-miR-3121-3p	CLIP-seq
MIRT1061107	hsa-miR-3125	CLIP-seq
MIRT1061108	hsa-miR-320a	CLIP-seq
MIRT1061109	hsa-miR-320b	CLIP-seq
MIRT1061110	hsa-miR-320c	CLIP-seq
MIRT1061111	hsa-miR-320d	CLIP-seq
MIRT1061112	hsa-miR-335	CLIP-seq
MIRT1061113	hsa-miR-361-5p	CLIP-seq
MIRT1061114	hsa-miR-3671	CLIP-seq
MIRT1061115	hsa-miR-3916	CLIP-seq
MIRT1061116	hsa-miR-4255	CLIP-seq
MIRT1061117	hsa-miR-433	CLIP-seq
MIRT1061118	hsa-miR-4429	CLIP-seq
MIRT1061119	hsa-miR-4458	CLIP-seq
MIRT1061120	hsa-miR-4500	CLIP-seq
MIRT1061121	hsa-miR-4536	CLIP-seq
MIRT1061122	hsa-miR-4729	CLIP-seq
MIRT1061123	hsa-miR-4803	CLIP-seq
MIRT1061124	hsa-miR-513c	CLIP-seq
MIRT1061125	hsa-miR-514b-5p	CLIP-seq
MIRT1061126	hsa-miR-607	CLIP-seq
MIRT1061127	hsa-miR-877	CLIP-seq
MIRT1061128	hsa-miR-98	CLIP-seq
MIRT1061093	hsa-let-7a	CLIP-seq
MIRT1061094	hsa-let-7b	CLIP-seq
MIRT1061095	hsa-let-7c	CLIP-seq
MIRT1061096	hsa-let-7d	CLIP-seq
MIRT1061097	hsa-let-7e	CLIP-seq
MIRT1061098	hsa-let-7f	CLIP-seq
MIRT1061099	hsa-let-7g	CLIP-seq
MIRT1061100	hsa-let-7i	CLIP-seq
MIRT1061129	hsa-miR-101	CLIP-seq
MIRT1061130	hsa-miR-1200	CLIP-seq
MIRT1061131	hsa-miR-1206	CLIP-seq
MIRT1061132	hsa-miR-1256	CLIP-seq
MIRT1061133	hsa-miR-149	CLIP-seq
MIRT1061103	hsa-miR-196a	CLIP-seq
MIRT1061104	hsa-miR-196b	CLIP-seq
MIRT1061105	hsa-miR-202	CLIP-seq
MIRT1061134	hsa-miR-3064-5p	CLIP-seq
MIRT1061135	hsa-miR-33a	CLIP-seq
MIRT1061136	hsa-miR-33b	CLIP-seq
MIRT1061113	hsa-miR-361-5p	CLIP-seq
MIRT1061137	hsa-miR-3677-5p	CLIP-seq
MIRT1061116	hsa-miR-4255	CLIP-seq
MIRT1061138	hsa-miR-4261	CLIP-seq
MIRT1061139	hsa-miR-4324	CLIP-seq
MIRT1061119	hsa-miR-4458	CLIP-seq
MIRT1061140	hsa-miR-4496	CLIP-seq
MIRT1061120	hsa-miR-4500	CLIP-seq
MIRT1061121	hsa-miR-4536	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT1061142	hsa-miR-4728-3p	CLIP-seq
MIRT1061122	hsa-miR-4729	CLIP-seq
MIRT1061143	hsa-miR-4789-3p	CLIP-seq
MIRT1061144	hsa-miR-4789-5p	CLIP-seq
MIRT1061145	hsa-miR-4794	CLIP-seq
MIRT1061146	hsa-miR-544b	CLIP-seq
MIRT1061147	hsa-miR-889	CLIP-seq
MIRT1061128	hsa-miR-98	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT1061132	hsa-miR-1256	CLIP-seq
MIRT2550016	hsa-miR-1269	CLIP-seq
MIRT2550017	hsa-miR-1269b	CLIP-seq
MIRT2550018	hsa-miR-145	CLIP-seq
MIRT2550019	hsa-miR-155	CLIP-seq
MIRT2550020	hsa-miR-3117-5p	CLIP-seq
MIRT1061106	hsa-miR-3121-3p	CLIP-seq
MIRT2550021	hsa-miR-3140-3p	CLIP-seq
MIRT2550022	hsa-miR-3160-3p	CLIP-seq
MIRT2550023	hsa-miR-3163	CLIP-seq
MIRT2550024	hsa-miR-3675-3p	CLIP-seq
MIRT1061137	hsa-miR-3677-5p	CLIP-seq
MIRT2550025	hsa-miR-376c	CLIP-seq
MIRT2550026	hsa-miR-4275	CLIP-seq
MIRT2550027	hsa-miR-4487	CLIP-seq
MIRT2550028	hsa-miR-4529-3p	CLIP-seq
MIRT2550029	hsa-miR-4639-5p	CLIP-seq
MIRT2550030	hsa-miR-4662a-3p	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT2550031	hsa-miR-4712-5p	CLIP-seq
MIRT2550032	hsa-miR-4766-3p	CLIP-seq
MIRT1061144	hsa-miR-4789-5p	CLIP-seq
MIRT2550033	hsa-miR-499-3p	CLIP-seq
MIRT2550034	hsa-miR-499a-3p	CLIP-seq
MIRT2550035	hsa-miR-558	CLIP-seq
MIRT2550036	hsa-miR-568	CLIP-seq
MIRT2550037	hsa-miR-587	CLIP-seq
MIRT2550038	hsa-miR-599	CLIP-seq
MIRT2550039	hsa-miR-770-5p	CLIP-seq
MIRT2550040	hsa-miR-944	CLIP-seq
MIRT1061132	hsa-miR-1256	CLIP-seq
MIRT2550016	hsa-miR-1269	CLIP-seq
MIRT2550017	hsa-miR-1269b	CLIP-seq
MIRT2550018	hsa-miR-145	CLIP-seq
MIRT2550019	hsa-miR-155	CLIP-seq
MIRT2550020	hsa-miR-3117-5p	CLIP-seq
MIRT1061106	hsa-miR-3121-3p	CLIP-seq
MIRT2550021	hsa-miR-3140-3p	CLIP-seq
MIRT2550022	hsa-miR-3160-3p	CLIP-seq
MIRT2550023	hsa-miR-3163	CLIP-seq
MIRT2550024	hsa-miR-3675-3p	CLIP-seq
MIRT2682639	hsa-miR-3676	CLIP-seq
MIRT1061137	hsa-miR-3677-5p	CLIP-seq
MIRT2550025	hsa-miR-376c	CLIP-seq
MIRT2682640	hsa-miR-4282	CLIP-seq
MIRT2550027	hsa-miR-4487	CLIP-seq
MIRT2550028	hsa-miR-4529-3p	CLIP-seq
MIRT2550029	hsa-miR-4639-5p	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT2550031	hsa-miR-4712-5p	CLIP-seq
MIRT2550032	hsa-miR-4766-3p	CLIP-seq
MIRT1061144	hsa-miR-4789-5p	CLIP-seq
MIRT2682641	hsa-miR-513a-3p	CLIP-seq
MIRT2550035	hsa-miR-558	CLIP-seq
MIRT2550036	hsa-miR-568	CLIP-seq
MIRT2682642	hsa-miR-577	CLIP-seq
MIRT2550037	hsa-miR-587	CLIP-seq
MIRT1061126	hsa-miR-607	CLIP-seq
MIRT2550039	hsa-miR-770-5p	CLIP-seq
MIRT2550040	hsa-miR-944	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001503	Process	Ossification	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003417	Process	Growth plate cartilage development	IEA
GO:0003418	Process	Growth plate cartilage chondrocyte differentiation	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	26980730
GO:0005929	Component	Cilium	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0009888	Process	Tissue development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IEA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA
GO:0030992	Component	Intraciliary transport particle B	IEA
GO:0030992	Component	Intraciliary transport particle B	IPI	26980730
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0033687	Process	Osteoblast proliferation	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035567	Process	Non-canonical Wnt signaling pathway	IEA
GO:0035630	Process	Bone mineralization involved in bone maturation	IEA
GO:0035720	Process	Intraciliary anterograde transport	NAS	26980730
GO:0036064	Component	Ciliary basal body	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0044691	Process	Tooth eruption	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	NAS	26980730
GO:0060348	Process	Bone development	IEA
GO:0060349	Process	Bone morphogenesis	IEA
GO:0061975	Process	Articular cartilage development	IEA
GO:0071895	Process	Odontoblast differentiation	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0097500	Process	Receptor localization to non-motile cilium	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097731	Component	9+0 non-motile cilium	IEA
GO:1902140	Process	Response to inositol	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990079	Process	Cartilage homeostasis	IEA
GO:2000051	Process	Negative regulation of non-canonical Wnt signaling pathway	IEA

MIM	HGNC	e!Ensembl
611177	29262	ENSG00000068885

Q9P2H3

Protein name

Intraflagellar transport protein 80 homolog (WD repeat-containing protein 56)

Protein function

Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Isoform IFT80-L is widely expressed. {ECO:0000269|PubMed:18601909}.

Sequence

MRLKISLLKEPKHQELVSCVGWTTAEELYSCSDDHQIVKWNLLTSETTQIVKLPDDIYPI
DFHWFPKSLGVKKQTQAESFVLTSSDGKFHLISKLGRVEKSVEAHCGAVLAGRWNYEGTA
LVTVGEDGQIKIWSKTGMLRSTLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAK
VLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDSYGRPLYNSQPHEHPITSVAWAPD
GELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAHVVE
QHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFST
KNWNTPIIFDLKEGTVSLILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQ
TVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFLSHKNEILEIALDQKGLTNDRKIA
FIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNTVYV
DRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSK
WEDAVRLCRFVKEQTMWACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKES
KMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYNWERALELAVKYKTHVDTVLAYRQ
KFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP

Sequence length

777

Interactions

View interactions

	Reactome
			Intraflagellar transport

738

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Asphyxiating thoracic dystrophy 2	Likely pathogenic; Pathogenic	rs1721846338, rs138004478, rs778324141, rs137853115, rs779179710, rs369779153, rs2473107231, rs369919590, rs431905497, rs202051267, rs1302753011, rs1241223548	RCV005038166 RCV000087065 RCV001802510 RCV000001044 RCV005034764 RCV005028258 RCV003146175 RCV005037017 RCV000001045 RCV001780160 RCV001263245 RCV001280940
Familial cancer of breast	Likely pathogenic	rs2275152	RCV005930526
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs777519235, rs1721846338, rs781436346, rs2108277143, rs2108362424, rs778324141, rs2108240653, rs1386720978, rs1450731316, rs2108234807, rs1182330004, rs2108404264, rs1307708371, rs1718069979, rs2275152 View all (25 more)	RCV001378040 RCV001378148 RCV001384026 RCV001385751 RCV001389037 RCV002541368 RCV002034239 RCV001941646 RCV001972150 RCV002035346 RCV002000201 RCV001969766 RCV001907893 RCV003085069 RCV002582465 RCV002615960 RCV002606023 RCV002638590 RCV002572488 RCV002646881 RCV002720456 RCV002766821 RCV002828837 RCV002944081 RCV002963402 RCV003031131 RCV003586538 RCV003586694 RCV003586957 RCV003748223 RCV003587710 RCV003749483 RCV003748713 RCV003749077 RCV002524657 RCV000515810 RCV000515954 RCV001204612 RCV001230552 RCV001229437 RCV005057206
Type IV short rib polydactyly syndrome	Likely pathogenic; Pathogenic	rs1553764834	RCV000515964

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs754398043	RCV005906995
Connective tissue disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs184680258, rs769891425, rs2108360263, rs144099135, rs188321058, rs548358266, rs34182424, rs372419950, rs139408398, rs146065418, rs551983792, rs143660757, rs543233802, rs554335278, rs527856744	RCV002276752 RCV002277041 RCV002278767 RCV002277340 RCV002278290 RCV002278541 RCV002278540 RCV002278539 RCV002279371 RCV002279381 RCV002279583 RCV002279580 RCV002279570 RCV002276642 RCV002276641
Familial pancreatic carcinoma	Benign; Likely benign	rs188321058	RCV005895681
Gastric cancer	Likely benign; Benign	rs1339121948, rs34613811	RCV005928210 RCV005869731
IFT80-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs774118255, rs760577994, rs367915575, rs548358266, rs372419950, rs2473099519, rs140202230, rs138004478, rs148926415, rs16831157, rs373116334	RCV003953760 RCV003920921 RCV003908741 RCV003922505 RCV003969991 RCV003969790 RCV003942476 RCV004758018 RCV003935408 RCV003918318 RCV003963147
Lung cancer	Benign; Likely benign	rs188321058	RCV005895682
Ovarian cancer	Benign; Likely benign	rs188321058	RCV005895680
Short-rib thoracic dysplasia 10 with or without polydactyly	Conflicting classifications of pathogenicity	rs557375681	RCV003389332
Short-rib thoracic dysplasia 6 with or without polydactyly	Conflicting classifications of pathogenicity	rs138004478	RCV000516104

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Glioma	Associate	36377597
Jeune syndrome	Associate	30453504, 31935347
Ovarian Neoplasms	Associate	31746426
Short rib polydactyly syndrome Verma Naumoff type	Associate	24183449, 30453504
Squamous Cell Carcinoma of Head and Neck	Associate	35403343
Stomach Neoplasms	Associate	30453504

IFT80 (intraflagellar transport 80)