RRAGD

Chr 6q15

Ras related GTP binding D

Aliases:: DKFZP761H171, bA11D8.2.1
MANE:: ENST00000369415.9

OMIM: 608268 ↗NCBI: 58528 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RRAGD · Q9NQL2

v62025-08-01

Predicted Aligned Error matrix for RRAGD — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.1/ 100

Confident

400 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)42%
Low(50–70)10%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Nephrocalcinosis or nephrolithiasis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hypomagnesemia 7, renal, with or without dilated cardiomyopathy
0.67
cardiomyopathy
0.52
tubular renal disease-cardiomyopathy syndrome
0.51
nephrocalcinosis
0.37
Tubular renal disease - cardiomyopathy
0.37
heart failure
0.26
Abnormal nasolacrimal system morphology
0.25
heart disorder
0.25
hereditary disease
0.19
hepatocellular carcinoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ras-related GTP-binding protein D

Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade (PubMed:20381137, PubMed:24095279, PubMed:34607910). Forms heterodimeric Rag complexes with RagA/RRAGA or RagB/RRAGB and cycles between an inactive GTP-bound and an active GDP-bound form: RagD/RRAGD is in its active form when GDP-bound RagD/RRAGD forms a complex with GTP-bound RagA/RRAGA (or RagB/RRAGB) and in an inactive form when GTP-bound RagD/RRAGD heterodimerizes with GDP-bound RagA/RRAGA (or RagB/RRAGB) (PubMed:24095279). In its active form, promotes the recruitment of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB (PubMed:20381137, PubMed:24095279). This is a crucial step in the activation of the MTOR signaling cascade by amino acids (PubMed:20381137, PubMed:24095279). Also plays a central role in the non-canonical mTORC1 complex, which acts independently of RHEB and specifically mediates phosphorylation of MiT/TFE factors TFEB and TFE3: GDP-bound RagD/RRAGD mediates recruitment of MiT/TFE factors TFEB and TFE3 (PubMed:32612235)