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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IFT80
intraflagellar transport 80
Chromosome 3 · 3q25.33
NCBI Gene: 57560Ensembl: ENSG00000068885.16HGNC: HGNC:29262UniProt: Q9P2H3
28PubMed Papers
21Diseases
0Drugs
64Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingintraciliary transport particle Aciliumcilium assemblyJeune syndromeBeemer-Langer syndromeneurodegenerative diseaseShort rib-polydactyly syndrome, Verma-Naumoff type
✦AI Summary

IFT80 is a core component of the intraflagellar transport (IFT) complex B, essential for cilia assembly and maintenance across ciliated organisms 1. Structurally, IFT80 forms a homodimer through its C-terminal α-helical extension, with its N-terminal β-propellers mediating integration into the larger IFT-B complex 2. This homodimerization is absolutely required for ciliogenesis, as demonstrated in CRISPR-engineered mouse cells 2. IFT80 regulates critical developmental processes beyond ciliogenesis. In chondrocyte differentiation, IFT80 modulates Hedgehog signaling through Gli2 while suppressing Wnt signaling to promote chondrogenesis 3. Similarly, in osteogenesis, IFT80 activates Hedgehog/Gli2 pathways and coordinates canonical versus non-canonical Hh signaling to enable osteoblast differentiation [PMID:22771375; 42]. In dental pulp stem cells, IFT80 couples FGF/FGFR1 signaling with Hh/BMP2 pathways to regulate odontogenic differentiation 5. IFT80 mutations cause short-rib thoracic dysplasia and Jeune asphyxiating thoracic dystrophy (JATD), autosomal recessive chondrodysplasias with skeletal abnormalities [PMID:23333501; 65]. Disease-causing missense mutations fail to establish functional IFT particles, while C-terminal deletions abolish dimerization and ciliogenesis rescue 2. Aberrant IFT80 expression promotes gastric and endometrial cancer progression through distinct pathways [PMID:30453504; 75], indicating context-dependent oncogenic roles.

Sources cited
1
IFT80 is a component of the IFT complex essential for cilia assembly and maintenance; linked to Jeune asphyxiating thoracic dystrophy
PMID: 18601909
2
IFT80 crystal structure reveals homodimer architecture required for ciliogenesis; disease-causing missense mutations prevent functional IFT particle formation
PMID: 29658880
3
IFT80 is essential for chondrocyte differentiation through regulating Hedgehog and Wnt signaling pathways
PMID: 23333501
4
IFT80 is required for cilia formation and osteogenesis through Hedgehog/Gli signaling pathways
PMID: 22771375
5
IFT80 balances canonical Hh-Gli signaling versus non-canonical Hh-Gαi-RhoA signaling for osteoblast differentiation
PMID: 26996322
6
Ciliary IFT80 regulates dental pulp stem cell differentiation through FGF/FGFR1 and Hh/BMP2 signaling coupling
PMID: 31592124
7
IFT80 overexpression promotes gastric cancer invasion through ift80/p75NGFR/MMP9 signaling
PMID: 30453504
8
Circular RNA IFT80 promotes endometrial cancer progression through miR-545-3p/FAM98A signaling
PMID: 34783205
Disease Associationsⓘ21
Jeune syndromeOpen Targets
0.79Strong
Beemer-Langer syndromeOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
Short rib-polydactyly syndrome, Verma-Naumoff typeOpen Targets
0.38Weak
myeloproliferative disorderOpen Targets
0.38Weak
clonal hematopoiesisOpen Targets
0.38Weak
Short rib-polydactyly syndrome, Beemer-Langer typeOpen Targets
0.37Weak
short-rib thoracic dysplasia 6 with or without polydactylyOpen Targets
0.33Weak
hypothyroidismOpen Targets
0.28Weak
hematologic diseaseOpen Targets
0.25Weak
polycythemia veraOpen Targets
0.25Weak
erectile dysfunctionOpen Targets
0.25Weak
essential thrombocythemiaOpen Targets
0.25Weak
chronic myeloproliferative disorderOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
connective tissue diseaseOpen Targets
0.17Weak
short-rib thoracic dysplasia 10 with or without polydactylyOpen Targets
0.12Weak
gastric cancerOpen Targets
0.07Suggestive
congenital radioulnar synostosisOpen Targets
0.07Suggestive
HypercholesterolemiaOpen Targets
0.06Suggestive
Short-rib thoracic dysplasia 2 with or without polydactylyUniProt
Pathogenic Variants64
NM_020800.3(IFT80):c.411dup (p.Met138fs)Pathogenic
Asphyxiating thoracic dystrophy 2|Jeune thoracic dystrophy
★★☆☆2026→ Residue 138
NM_020800.3(IFT80):c.958-1G>TPathogenic
Jeune thoracic dystrophy|Asphyxiating thoracic dystrophy 2
★★☆☆2026
NM_020800.3(IFT80):c.1961dup (p.Asn654fs)Pathogenic
Jeune thoracic dystrophy|Asphyxiating thoracic dystrophy 2
★★☆☆2025→ Residue 654
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)Pathogenic
Jeune thoracic dystrophy|Asphyxiating thoracic dystrophy 2
★★☆☆2025→ Residue 234
NM_020800.3(IFT80):c.440-2A>GLikely pathogenic
Jeune thoracic dystrophy|Asphyxiating thoracic dystrophy 2
★★☆☆2024
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)Pathogenic
Jeune thoracic dystrophy|Asphyxiating thoracic dystrophy 2
★★☆☆2024→ Residue 495
NM_020800.3(IFT80):c.401C>G (p.Ser134Ter)Pathogenic
Asphyxiating thoracic dystrophy 2|Jeune thoracic dystrophy
★★☆☆2024→ Residue 134
NM_020800.3(IFT80):c.869dup (p.Asn290fs)Pathogenic
not provided|Jeune thoracic dystrophy
★★☆☆2022→ Residue 290
NM_020800.3(IFT80):c.1769del (p.Ala590fs)Pathogenic
Jeune thoracic dystrophy
★☆☆☆2025→ Residue 590
NM_020800.3(IFT80):c.890_891del (p.His297fs)Pathogenic
Jeune thoracic dystrophy
★☆☆☆2025→ Residue 297
NM_020800.3(IFT80):c.1198G>T (p.Glu400Ter)Pathogenic
Asphyxiating thoracic dystrophy 2
★☆☆☆2025→ Residue 400
NM_020800.3(IFT80):c.925C>T (p.Gln309Ter)Pathogenic
Jeune thoracic dystrophy
★☆☆☆2025→ Residue 309
NM_020800.3(IFT80):c.957+1G>ALikely pathogenic
Jeune thoracic dystrophy
★☆☆☆2025
NM_020800.3(IFT80):c.898_899del (p.Glu300fs)Pathogenic
Jeune thoracic dystrophy
★☆☆☆2025→ Residue 300
NM_020800.3(IFT80):c.551G>A (p.Trp184Ter)Pathogenic
Jeune thoracic dystrophy
★☆☆☆2025→ Residue 184
NM_020800.3(IFT80):c.2085del (p.Tyr696fs)Pathogenic
Jeune thoracic dystrophy
★☆☆☆2025→ Residue 696
NM_020800.3(IFT80):c.1989_1990del (p.Ile665fs)Pathogenic
Jeune thoracic dystrophy
★☆☆☆2025→ Residue 665
NM_020800.3(IFT80):c.1516+2T>CLikely pathogenic
Jeune thoracic dystrophy
★☆☆☆2025
NM_020800.3(IFT80):c.1076+1G>ALikely pathogenic
Jeune thoracic dystrophy|Familial cancer of breast
★☆☆☆2025
NM_020800.3(IFT80):c.1665-1G>CLikely pathogenic
Jeune thoracic dystrophy
★☆☆☆2024
View on ClinVar ↗
Related Genes
DYNC2LI1Protein interaction100%IFT88Protein interaction99%IFT27Protein interaction99%IFT38Protein interaction99%IFT54Protein interaction99%IFT81Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
87%
Heart
71%
Brain
66%
Liver
50%
Lung
45%
Gene Interaction Network
Click a node to explore
IFT80DYNC2LI1IFT88IFT27IFT38IFT54IFT81
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P2H3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.41–0.74]
RankingsWhere IFT80 stands among ~20K protein-coding genes
  • #12,367of 20,598
    Most Researched28
  • #1,122of 5,498
    Most Pathogenic Variants64 · top quartile
  • #5,813of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedIFT80
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and characterization of a long isoform of human IFT80, IFT80-L.
PMID: 18601909
Biochem Biophys Res Commun · 2008
1.00
2
Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.
PMID: 29658880
Elife · 2018
0.90
3
Circular RNA intraflagellar transport 80 facilitates endometrial cancer progression through modulating miR-545-3p/FAM98A signaling.
PMID: 34783205
J Gynecol Oncol · 2022
0.80
4
IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways.
PMID: 23333501
Exp Cell Res · 2013
0.70
5
The intraflagellar transport protein IFT80 is required for cilia formation and osteogenesis.
PMID: 22771375
Bone · 2012
0.60