TBC1D14
protein-codingTBC1 domain family member 14
Gene summary
Enables protein kinase binding activity. Involved in negative regulation of autophagy; recycling endosome to Golgi transport; and regulation of autophagosome assembly. Located in Golgi apparatus; autophagosome; and recycling endosome. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~123.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TBC1D14 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020773.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 93 | 4 | 1 | 98 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 7 | 7 | ||||
| Total | 0 | 0 | 100 | 4 | 2 | 106 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_065824.2 | 13 | MANE Select | |
| Ensembl | ENSP00000386921.4 | 13 | MANE Select | |
| RefSeq | NP_001106832.1 | 13 | Standard | |
| RefSeq | NP_001106834.1 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Vesicle-mediated transport
- TBC/RABGAPs
- Membrane Trafficking
- Rab regulation of trafficking
Biological Process
- intracellular protein transport
- negative regulation of autophagy
- recycling endosome to Golgi transport
- activation of GTPase activity
- regulation of cilium assembly
Molecular Function
- GTPase activator activity
- protein binding
- Rab GTPase binding
- protein kinase binding
Cellular Component
- nucleoplasm
- autophagosome
- Golgi apparatus
- cytosol
- intracellular membrane-bounded organelle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000409757
- Coding exons
- 13
- Length
- 123877
- Individuals with no LoFs
- 125729
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 19
- Defined
- 125748
- p
- 0.0000756
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.17 | 346 | 413 | 0.838 | 0.0000257 | 4576 |
| Missense (PolyPhen) | 93 | 162.52 | 0.57223 | 1877 | ||
| Synonymous | -1.11 | 189 | 171 | 1.11 | 0.0000120 | 1342 |
| Loss of Function | 4.12 | 10 | 37.1 | 0.270 | 0.00000232 | 377 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000062 | 0.000062 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.000088 | 0.000088 | rare |
| South Asian | 0.00013 | 0.00013 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Negative regulator of starvation-induced autophagosome formation. {ECO:0000269|PubMed:22613832}.;
Intolerance Scores
- LoFtool
- 0.411
- RVIS EVS
- -0.82
- RVIS percentile EVS
- 11.98
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.618
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |