TBC1D32
TBC1 Domain Family Member 32
Gene Information Card
| Symbol | TBC1D32 |
|---|---|
| Full Name | TBC1 Domain Family Member 32 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 79660 ncbi.nlm.nih.gov/gene/79660 |
| Ensembl ID | ENSG00000146374 |
| UniProt ID | Q9BZP6 |
| OMIM ID | 615867 |
| HGNC ID | 29079 |
| Aliases | C6orf170, dJ1181N3.1, FLJ21079 |
Description
TBC1D32 encodes a protein containing a TBC (Tre-2/Bub2/Cdc16) domain, which is characteristic of Rab GTPase-activating proteins (GAPs). The protein is involved in ciliogenesis and localizes to the base of primary cilia. Mutations in TBC1D32 are associated with Joubert syndrome, a ciliopathy characterized by cerebellar vermis hypoplasia, intellectual disability, and retinal dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 22 (JBTS22) | Loss-of-function mutations impair ciliary assembly and function, leading to defective ciliary signaling in the brain, retina, and kidneys. | OMIM #615867; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain (cerebellum) | 5.1 | Low |
| Kidney | 4.3 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.5 | RNA-seq moderate expression |
| HeLa | 4.2 | RNA-seq low expression |
| SH-SY5Y | 3.9 | RNA-seq low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154C>T (p.Arg52*) | Nonsense | Rare | Loss of function; premature truncation |
| c.1012G>A (p.Gly338Arg) | Missense | Rare | Likely damaging; disrupts TBC domain |
| c.1687C>T (p.Arg563Trp) | Missense | Rare | Uncertain significance; reported in JBTS |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein or nonsense-mediated decay, impairing ciliogenesis.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • protein binding (GO:0005515) |
| • cell projection organization (GO:0030030) | • cilium assembly (GO:0060271) |
| • cell projection (GO:0042995) | • cilium (GO:0005929) |
Pathways
• Ciliopathy (Joubert syndrome)
• Rab GTPase cycle (TBC domain GAP activity)
Protein Summary
The TBC1D32 protein (UniProt Q9BZP6) is 1,024 amino acids long and contains a TBC domain that functions as a Rab GTPase-activating protein. It localizes to the base of primary cilia and is essential for ciliary assembly and maintenance. Defects in this protein disrupt ciliary signaling, leading to Joubert syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D32 Knockout HEK293 Cell Line | EDJ-KQ8813 | Human | 221322 | Details Get a Quote |
| TBC1D32 Knockout HCT 116 Cell Line | EDJ-KQ35117 | Human | 221322 | Details Get a Quote |
| TBC1D32 Knockout HeLa Cell Line | EDJ-KQ35118 | Human | 221322 | Details Get a Quote |
| TBC1D32 Knockout A-549 Cell Line | EDJ-KQ33866 | Human | 221322 | Details Get a Quote |
