IFT80 information

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)
End	160,399,880 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	68,911,903 bp
RNA expression pattern
	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
	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
	57560
	68259
	ENSG00000068885
	ENSMUSG00000027778
	Q9P2H3
	Q8K057
	NM_020800; NM_001190241; NM_001190242
	NM_026641
	NP_001177170; NP_001177171; NP_065851
	NP_080917
	Wikidata
View/Edit Human	View/Edit Mouse

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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000068885 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027778 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: intraflagellar transport 80 homolog (Chlamydomonas)".
^ Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ (June 2007). "IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy". Nat. Genet. 39 (6): 727–9. doi:10.1038/ng2038. PMID 17468754. S2CID 8920064.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000068885 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027778 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: intraflagellar transport 80 homolog (Chlamydomonas)".

[pmid17468754-6] Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ (June 2007). "IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy". Nat. Genet. 39 (6): 727–9. doi:10.1038/ng2038. PMID 17468754. S2CID 8920064.

IFT80 information

and 5 Related for: IFT80 information

IFT80

Asphyxiating thoracic dysplasia

WD40 repeat

Intraflagellar transport

List of OMIM disorder codes