TRARG1

trafficking regulator of GLUT4 (SLC2A4) 1, the group of interferon induced transmembrane protein domain containing

Basic information

Region (hg38): 17:1279662-1300978

Previous symbols: [ "TUSC5" ]

Links

ENSG00000184811NCBI:286753OMIM:612211HGNC:29592Uniprot:Q8IXB3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRARG1 gene.

  • not_specified (29 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRARG1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000172367.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
25
clinvar
4
clinvar
29
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 25 4 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TRARG1protein_codingprotein_codingENST00000333813 321325
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0005240.4701247820111247930.0000441
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4371291161.110.000007361125
Missense in Polyphen4039.7921.0052401
Synonymous-1.136655.31.190.00000400392
Loss of Function0.16655.420.9232.31e-760

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001520.000152
Ashkenazi Jewish0.000.00
East Asian0.0001120.000111
Finnish0.00004820.0000464
European (Non-Finnish)0.00001780.0000177
Middle Eastern0.0001120.000111
South Asian0.00006580.0000654
Other0.000.00

dbNSFP

Source: dbNSFP

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

loftool
rvis_EVS
1.26
rvis_percentile_EVS
93.53

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.180
ghis
0.396

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Trarg1
Phenotype
growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype;

Zebrafish Information Network

Gene name
trarg1a
Affected structure
Rohon-Beard neuron
Phenotype tag
abnormal
Phenotype quality
loose

Gene ontology

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;perinuclear region of cytoplasm
Molecular function