IFT80

Intraflagellar transport protein 80 homolog (IFT80), also known as WD repeat-containing protein 56, is a protein that in humans is encoded by the IFT80 gene.^[5][6]

IFT80
Identifiers
Aliases	IFT80, ATD2, SRTD2, WDR56, intraflagellar transport 80, FAP167
External IDs	OMIM: 611177; MGI: 1915509; HomoloGene: 12253; GeneCards: IFT80; OMA:IFT80 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q25.33 Start 160,256,986 bp[1] End 160,399,880 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 E1 Start 68,799,832 bp[2] End 68,911,903 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in epithelium of colon endothelial cell bronchial epithelial cell mucosa of paranasal sinus Brodmann area 23 corpus callosum germinal epithelium external globus pallidus visceral pleura Brodmann area 46 Top expressed in spermatocyte olfactory epithelium spermatid interventricular septum Epithelium of choroid plexus thymus pituitary gland seminiferous tubule neural layer of retina pineal gland More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm ciliary tip cell projection cytoskeleton cilium centrosome intraciliary transport particle B Biological process intraciliary transport involved in cilium assembly cilium assembly osteoblast differentiation chondrocyte differentiation smoothened signaling pathway positive regulation of smoothened signaling pathway negative regulation of epithelial cell proliferation bone morphogenesis non-motile cilium assembly negative regulation of non-canonical Wnt signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57560 68259 Ensembl ENSG00000068885 ENSMUSG00000027778 UniProt Q9P2H3 Q8K057 RefSeq (mRNA) NM_020800 NM_001190241 NM_001190242 NM_026641 RefSeq (protein) NP_001177170 NP_001177171 NP_065851 NP_080917 Location (UCSC) Chr 3: 160.26 – 160.4 Mb Chr 3: 68.8 – 68.91 Mb PubMed search [3] [4]
Wikidata
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Function

IFT80 is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia.^[5]

Clinical significance

Mutations in the IFT80 gene are associated with asphyxiating thoracic dysplasia.^[6]