Ift80 Gene Summary [Mouse]
Acts upstream of or within several processes, including cell surface receptor signaling pathway; intracellular signaling cassette; and skeletal system development. Located in centrosome and ciliary basal body. Part of intraciliary transport particle B. Is active in 9+0 non-motile cilium. Is expressed in brain. Used to study asphyxiating thoracic dystrophy 2 and asphyxiating thoracic dystrophy 3. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 2. Orthologous to human IFT80 (intraflagellar transport 80). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ift80 |
| Official Name | intraflagellar transport 80 [Source:MGI Symbol;Acc:MGI:1915509] |
| Ensembl ID | ENSMUSG00000027778 |
| Bio databases IDs | |
| Aliases | intraflagellar transport 80 |
| Synonyms | 4921524P20Rik, ATD2, CFAP167, FAP167, intraflagellar transport 80, mKIAA1374, RGD1312006, SRTD2, WDR56 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ift80 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- WD40 repeats
- WD domain, G-beta repeat
- WD40
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- short-rib thoracic dysplasia type 2 without polydactyly
- Jeune syndrome
- short-rib thoracic dysplasia type 2
- short-rib thoracic dysplasia type 2 with polydactyly
- epithelial cancer
- hepatocellular carcinoma
- liver cancer
- clonal hematopoiesis
- short-rib thoracic dysplasia type 6
- short rib-polydactyly syndrome type 4
role in cell
- migration
- apoptosis
- expression in
- proliferation
- formation
- differentiation
- assembly
- endochondral ossification by
- ossification by
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- ciliary tip
- non-motile cilium
- cilia
- basal bodies
- centrosome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ift80 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- bone mineralization involved in bone maturation
- keratinocyte proliferation
- cilium morphogenesis
- limb development
- negative regulation of non-canonical Wnt receptor signaling pathway
- smoothened signaling pathway
- negative regulation of keratinocyte proliferation
- growth plate cartilage chondrocyte differentiation
- osteoblast differentiation
- osteoblast proliferation
- endochondral ossification
- intraflagellar anterograde transport
- non-canonical Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- centrosome
- cilium basal body
- cytoplasm
- cilium
- intraflagellar transport particle B