Ift172 Gene Summary [Mouse]
Involved in cilium assembly and smoothened signaling pathway. Acts upstream of or within several processes, including embryonic morphogenesis; regionalization; and regulation of smoothened signaling pathway. Located in sperm cytoplasmic droplet; sperm midpiece; and sperm principal piece. Part of intraciliary transport particle B. Is expressed in several structures, including brain; endocrine gland; genitourinary system; heart; and respiratory system. Used to study VACTERL association; atrioventricular septal defect; and retinal degeneration. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 20; retinitis pigmentosa 71; and short-rib thoracic dysplasia 10 with or without polydactyly. Orthologous to human IFT172 (intraflagellar transport 172). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ift172 |
| Official Name | intraflagellar transport 172 [Source:MGI Symbol;Acc:MGI:2682064] |
| Ensembl ID | ENSMUSG00000038564 |
| Bio databases IDs | |
| Aliases | intraflagellar transport 172 |
| Synonyms | 4930553F24Rik, avc1, BBS20, intraflagellar transport 172, NPHP17, osm-1, RP71, SLB, SRTD10, wim |
| 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 Ift172 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- LIM binding domain
- 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
- retinitis pigmentosa type 71
- short-rib thoracic dysplasia type 10 without polydactyly
- short-rib thoracic dysplasia type 10
- hereditary disorder
- Bardet-Biedl syndrome
- Bardet-Biedl syndrome type 20
- short-rib thoracic dysplasia type 10 with polydactyly
- edema
- psoriasis
- metabolic syndrome X
role in cell
- proliferation
- differentiation
- assembly
- morphology
- 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
- motile cilia
- ciliary tip
- cilia
- Nucleus
- basal bodies
- sperm midpiece
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ift172 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- keratinocyte proliferation
- cilium morphogenesis
- limb development
- palate development
- spinal cord motor neuron differentiation
- epidermis development
- smoothened signaling pathway
- brain development
- negative regulation of smoothened signaling pathway
- dorsal/ventral pattern formation
- bone development
- negative regulation of keratinocyte proliferation
- Notch signaling pathway
- neural tube closure
- intraflagellar transport
- positive regulation of smoothened signaling pathway
- embryonic camera-type eye morphogenesis
- heart looping
- protein processing
- cytoplasmic microtubule organization
- intraflagellar anterograde transport
- left/right axis specification
Cellular Component
Where in the cell the gene product is active
- sperm midpiece
- cilium basal body
- cilium
- sperm principal piece
- intraflagellar transport particle B
- axoneme