TBC1D23 Gene
TBC1 Domain Family Member 23
Gene Information Card
| Symbol | TBC1D23 |
|---|---|
| Full Name | TBC1 Domain Family Member 23 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q12.1 |
| NCBI Gene ID | 55746 ncbi.nlm.nih.gov/gene/55746 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q9H3K6 |
| OMIM ID | 617687 |
| HGNC ID | 28973 |
| Aliases | FLJ12606, MGC131911, TBC1D23 |
Description
TBC1D23 is a protein-coding gene that encodes a member of the TBC1 domain family. The protein contains a TBC (Tre-2/Bub2/Cdc16) domain, which is characteristic of Rab GTPase-activating proteins (GAPs). TBC1D23 is involved in vesicle trafficking and endosomal transport. Mutations in this gene are associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | Loss of function of TBC1D23 disrupts vesicle trafficking in neurons, leading to impaired brain development | OMIM #617687, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| SH-SY5Y | 9.1 | Moderate expression |
| HeLa | 7.5 | Low expression |
| HepG2 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.789_790del (p.Glu264fs) | Frameshift | <0.01% | Loss of function |
| c.1567G>A (p.Gly523Arg) | Missense | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to premature stop codons and truncated protein, resulting in loss of Rab GAP activity and disrupted vesicle trafficking.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rab regulation of trafficking
• Endocytosis
Protein Summary
The TBC1D23 protein is a 677-amino acid Rab GTPase-activating protein (Rab GAP) that localizes to endosomes and regulates endosomal trafficking. It contains a conserved TBC domain that catalyzes GTP hydrolysis on Rab proteins, thereby inactivating them. TBC1D23 is particularly important for neuronal development and function, as loss of function leads to impaired vesicle transport and neurodevelopmental phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D23 Knockout HEK293 Cell Line | EDJ-KQ15651 | Human | 55773 | Details Get a Quote |
| TBC1D23 Knockout A-549 Cell Line | EDJ-KQ45325 | Human | 55773 | Details Get a Quote |
| TBC1D23 Knockout HCT 116 Cell Line | EDJ-KQ46553 | Human | 55773 | Details Get a Quote |
| TBC1D23 Knockout HeLa Cell Line | EDJ-KQ46554 | Human | 55773 | Details Get a Quote |
