TRARG1
protein-codingtrafficking regulator of GLUT4 (SLC2A4) 1, the group of interferon induced transmembrane protein domain containing
Gene summary
Predicted to be involved in endosome to plasma membrane protein transport and glucose import in response to insulin stimulus. Predicted to act upstream of or within vesicle fusion to plasma membrane. Predicted to be located in plasma membrane. Predicted to be active in cytoplasmic vesicle membrane. [provided by Alliance of Genome Resources, Jun 2026]
- TUSC5
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~21.3 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 TRARG1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_172367.3. 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 | 0 | |||||
| missense | 33 | 4 | 37 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 33 | 4 | 0 | 37 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_758955.2 | 3 | MANE Select | |
| Ensembl | ENSP00000329548.3 | 3 | MANE Select | |
| Ensembl | ENSP00000807209.1 | 3 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| trarg1a | Danio rerio | Structure: Rohon-Beard neuron Quality: loose abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cellular response to insulin stimulus
- glucose import in response to insulin stimulus
- protein localization to plasma membrane
- vesicle fusion to plasma membrane
- endosome to plasma membrane protein transport
Cellular Component
- plasma membrane
- endomembrane system
- membrane
- integral component of membrane
- cytoplasmic vesicle membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000333813
- Coding exons
- 3
- Length
- 21325
- Individuals with no LoFs
- 124782
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 11
- Defined
- 124793
- p
- 0.0000441
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.437 | 129 | 116 | 1.11 | 0.00000736 | 1125 |
| Missense (PolyPhen) | 40 | 39.792 | 1.0052 | 401 | ||
| Synonymous | -1.13 | 66 | 55.3 | 1.19 | 0.00000400 | 392 |
| Loss of Function | 0.166 | 5 | 5.42 | 0.923 | 2.31e-7 | 60 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000065 | 0.000065 | rare |
| Latino/Admixed American | 0.000087 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.000048 | 0.000046 | rare |
| European (Non-Finnish) | 0.000018 | 0.000018 | rare |
| South Asian | 0.000066 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Regulates insulin-mediated adipose tissue glucose uptake and transport by modulation of SLC2A4 recycling. Not required for SLC2A4 membrane fusion upon an initial stimulus, but rather is necessary for proper protein recycling during prolonged insulin stimulation. {ECO:0000250|UniProtKB:Q8C838}.;
Intolerance Scores
- RVIS EVS
- 1.26
- RVIS percentile EVS
- 93.53
Essentials
- Essential (gene trap)
- N