IFT52 Gene Summary [Human]
This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | IFT52 |
| Official Name | intraflagellar transport 52 [Source:HGNC Symbol;Acc:HGNC:15901] |
| Ensembl ID | ENSG00000101052 |
| Bio databases IDs | |
| Aliases | intraflagellar transport 52 |
| Synonyms | AU015812, C20orf9, CGI-53, intraflagellar transport 52, LOC684302, NGD2, NGD5, RGD1311004 |
| 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 IFT52 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 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 16 with polydactyly
- non-insulin-dependent diabetes mellitus
- short rib-polydactyly syndrome
- short-rib thoracic dysplasia type 16 with or without polydactyly
- short-rib thoracic dysplasia 16 without polydactyly
role in cell
- proliferation
- assembly
- clustering in
- clustering
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
- motile cilia
- ciliary tip
- non-motile cilium
- cilia
- basal bodies
- centrosome
- centriole
- connecting cilia
- neurites
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IFT52 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of keratinocyte proliferation
- neural tube formation
- keratinocyte proliferation
- cilium morphogenesis
- intraflagellar transport
- smoothened signaling pathway
- heart looping
- intraflagellar anterograde transport
- dorsal/ventral pattern formation
- embryonic digit morphogenesis
- regulation of protein processing
Cellular Component
Where in the cell the gene product is active
- dendrite terminus
- photoreceptor connecting cilium
- motile cilium
- centrosome
- cilium basal body
- centriole
- cilium
- intraflagellar transport particle B
Molecular Function
What the gene product does at the molecular level
- protein binding