TRAK2
protein-codingtrafficking kinesin protein 2
Gene summary
Predicted to enable GABA receptor binding activity and myosin binding activity. Predicted to be involved in several processes, including mitochondrion distribution; protein targeting; and vesicle transport along microtubule. Predicted to be located in cytoplasm and plasma membrane. Predicted to be active in cytoplasmic vesicle; dendrite; and mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]
- ALS2CR3
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~74.3 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 TRAK2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_015049.3. 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 | 2 | 2 | ||||
| missense | 117 | 2 | 119 | |||
| nonsense | 1 | 1 | 2 | |||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 120 | 3 | 2 | 125 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055864.2 | 15 | MANE Select | |
| Ensembl | ENSP00000328875.3 | 15 | MANE Select | |
| Ensembl | ENSP00000409333.1 | 7 | Standard | |
| Ensembl | ENSP00000409333.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- GABAergic synapse - Homo sapiens (human)
Biological Process
- regulation of transcription by RNA polymerase II
- protein O-linked glycosylation
- protein targeting
- anterograde axonal transport
- protein localization
Molecular Function
- signaling receptor binding
- protein binding
- myosin binding
- kinesin binding
- enzyme binding
Cellular Component
- nucleus
- cytoplasm
- mitochondrion
- early endosome
- plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000332624
- Coding exons
- 15
- Length
- 74373
- Individuals with no LoFs
- 125514
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 232
- Defined
- 125748
- p
- 0.000931
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.487 | 458 | 488 | 0.938 | 0.0000259 | 5941 |
| Missense (PolyPhen) | 163 | 183.47 | 0.88841 | 2231 | ||
| Synonymous | 0.434 | 171 | 178 | 0.959 | 0.00000896 | 1812 |
| Loss of Function | 2.56 | 30 | 49.4 | 0.607 | 0.00000314 | 537 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00031 | 0.00031 | rare |
| Latino/Admixed American | 0.00044 | 0.00040 | rare |
| Ashkenazi Jewish | 0.00050 | 0.00050 | rare |
| East Asian | 0.00038 | 0.00038 | rare |
| Finnish | 0.0018 | 0.0018 | notable |
| European (Non-Finnish) | 0.0013 | 0.0012 | notable |
| South Asian | 0.00053 | 0.00052 | rare |
| Other | 0.0011 | 0.0011 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May regulate endosome-to-lysosome trafficking of membrane cargo, including EGFR. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.112
Intolerance Scores
- LoFtool
- 0.905
- RVIS EVS
- -0.46
- RVIS percentile EVS
- 23.66
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.900
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |