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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RRAGD
Ras related GTP binding D
Chromosome 6 Β· 6q15
NCBI Gene: 58528Ensembl: ENSG00000025039.16HGNC: HGNC:19903UniProt: Q9NQL2
42PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GTP bindingcellular response to L-leucinepositive regulation of TORC1 signalingcellular response to leucine starvationhypomagnesemia 7, renal, with or without dilated cardiomyopathycardiomyopathytubular renal disease-cardiomyopathy syndromenephrocalcinosis
✦AI Summary

RRAGD (Ras related GTP binding D) is a guanine nucleotide-binding protein that functions as a critical regulator of mTORC1 signaling in response to amino acid availability. RRAGD forms heterodimeric Rag complexes with RagA or RagB, cycling between inactive (GTP-bound) and active (GDP-bound) conformations 12. In its active GDP-bound state, RRAGD recruits mTORC1 to lysosomes for activation by RHEB, promoting anabolic processes 12. RRAGD also participates in non-canonical mTORC1 signaling independent of RHEB, mediating recruitment of the transcription factors TFEB and TFE3 to regulate lysosomal biogenesis and autophagy 3. This TFEB-dependent pathway operates as a substrate-specific mechanism sensitive to amino acid availability but insensitive to growth factor signaling 3. Beyond nutrient sensing, RRAGD promotes aerobic glycolysis in hepatocellular carcinoma and is upregulated by the oncogene MYC 4. Clinically, RRAGD mutations cause autosomal dominant kidney hypomagnesemia with cardiomyopathy, characterized by renal magnesium and potassium wasting and varying cardiac dysfunction severity 56. These disease-causing variants constitutively activate non-canonical mTORC1 signaling, disrupting TFEB nuclear translocation and lysosomal function 6.

Sources cited
1
RRAGD forms Rag complexes and promotes mTORC1 recruitment to lysosomes in response to amino acids
PMID: 20381137
2
RRAGD cycles between GDP-bound active and GTP-bound inactive states; active GDP-bound RRAGD recruits mTORC1 to lysosomes for RHEB-mediated activation
PMID: 24095279
3
RRAGD mediates substrate-specific mTORC1 phosphorylation of TFEB via amino acid-dependent activation, independent of RHEB; constitutive RRAGD activation drives kidney abnormalities in Birt-Hogg-DubΓ© syndrome
PMID: 32612235
4
RRAGD promotes aerobic glycolysis and cancer progression in hepatocellular carcinoma; RRAGD expression is upregulated by MYC oncogene
PMID: 33434687
5
RRAGD variants cause autosomal dominant kidney hypomagnesemia with dilated cardiomyopathy; disease variants activate non-canonical mTORC1 signaling
PMID: 41141537
6
RRAGD mutations disrupt non-canonical mTORC1 pathway, impairing TFEB nuclear translocation and causing kidney tubulopathy with magnesium and potassium wasting plus cardiac dysfunction
PMID: 38901414
7
RRAGD participates in TFEB-mediated endosomal complex formation required for mTORC1 activation and autophagy regulation
PMID: 30145926
8
RRAGD activation by LINC00622 promotes mTORC1-mediated suppression of autophagic cell death in melanoma
PMID: 40651979
Disease Associationsβ“˜21
hypomagnesemia 7, renal, with or without dilated cardiomyopathyOpen Targets
0.63Moderate
cardiomyopathyOpen Targets
0.52Moderate
tubular renal disease-cardiomyopathy syndromeOpen Targets
0.51Moderate
nephrocalcinosisOpen Targets
0.37Weak
Tubular renal disease - cardiomyopathyOpen Targets
0.37Weak
heart diseaseOpen Targets
0.29Weak
heart failureOpen Targets
0.29Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
nervous system benign neoplasmOpen Targets
0.07Suggestive
Abruptio PlacentaeOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
melanomaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
Barrett's esophagusOpen Targets
0.03Suggestive
systemic inflammatory response syndromeOpen Targets
0.03Suggestive
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene FusionsOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
atherosclerosisOpen Targets
0.02Suggestive
Hypomagnesemia 7, renal, with or without dilated cardiomyopathyUniProt
Pathogenic Variants8
NM_021244.5(RRAGD):c.227C>T (p.Ser76Leu)Likely pathogenic
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy|RRAGD-related disorder|Renal tubulopathies
β˜…β˜†β˜†β˜†2025β†’ Residue 76
NM_021244.5(RRAGD):c.299T>G (p.Ile100Arg)Likely pathogenic
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 100
NM_021244.5(RRAGD):c.356C>G (p.Pro119Arg)Pathogenic
not provided|HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY
β˜…β˜†β˜†β˜†2021β†’ Residue 119
NM_021244.5(RRAGD):c.356C>T (p.Pro119Leu)Pathogenic
HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY
β˜†β˜†β˜†β˜†2022β†’ Residue 119
NM_021244.5(RRAGD):c.227C>G (p.Ser76Trp)Pathogenic
HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY
β˜†β˜†β˜†β˜†2022β†’ Residue 76
NM_021244.5(RRAGD):c.289A>C (p.Thr97Pro)Pathogenic
HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY
β˜†β˜†β˜†β˜†2022β†’ Residue 97
NM_021244.5(RRAGD):c.230C>T (p.Ser77Phe)Pathogenic
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
β˜†β˜†β˜†β˜†β†’ Residue 77
NM_021244.5(RRAGD):c.272C>T (p.Thr91Ile)Pathogenic
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
β˜†β˜†β˜†β˜†β†’ Residue 91
View on ClinVar β†—
Related Genes
LARS2Protein interaction100%FNIP2Protein interaction100%TSC1Protein interaction100%WDR24Protein interaction100%WDR59Protein interaction100%AKT1Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Brain
50%
Bone Marrow
31%
Lung
15%
Liver
10%
Ovary
2%
Gene Interaction Network
Click a node to explore
RRAGDLARS2FNIP2TSC1WDR24WDR59AKT1
PROTEIN STRUCTURE
Preparing viewer…
PDB2Q3F Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.63LoF Tolerant
pLIβ“˜
0.56Intermediate
Observed/Expected LoF0.38 [0.24–0.63]
RankingsWhere RRAGD stands among ~20K protein-coding genes
  • #9,937of 20,598
    Most Researched42
  • #3,106of 5,498
    Most Pathogenic Variants8
  • #4,451of 17,882
    Most Constrained (LOEUF)0.63 Β· top quartile
Genes detectedRRAGD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
TFEB-driven endocytosis coordinates MTORC1 signaling and autophagy.
PMID: 30145926
Autophagy Β· 2019
1.00
2
A substrate-specific mTORC1 pathway underlies Birt-Hogg-DubΓ© syndrome.
PMID: 32612235
Nature Β· 2020
0.90
3
Ras related GTP binding D promotes aerobic glycolysis of hepatocellular carcinoma.
PMID: 33434687
Ann Hepatol Β· 2021
0.80
4
Customized extracellular vesicles targeting lysosomal biogenesis deliver therapeutic cargo for intervertebral disc degeneration treatment.
PMID: 41076529
J Nanobiotechnology Β· 2025
0.70
5
Novel
PMID: 41141537
Kidney Int Rep Β· 2025
0.60