IFT80 Gene Summary [Human]
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 encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
Details
| Type | Protein Coding |
| Official Symbol | IFT80 |
| Official Name | intraflagellar transport 80 [Source:HGNC Symbol;Acc:HGNC:29262] |
| Ensembl ID | ENSG00000068885 |
| Bio databases IDs | |
| Aliases | intraflagellar transport 80 |
| Synonyms | 4921524P20Rik, ATD2, CFAP167, FAP167, intraflagellar transport 80, mKIAA1374, RGD1312006, SRTD2, WDR56 |
| Species | Human, Homo sapiens |
| 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 human 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 human 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