Gene Gene information from NCBI Gene database.
Entrez ID 58528
Gene name Ras related GTP binding D
Gene symbol RRAGD
Synonyms (NCBI Gene)
HOMG7RAGDbA11D8.2.1
Chromosome 6
Chromosome location 6q15
Summary RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]
miRNA miRNA information provided by mirtarbase database.
383
miRTarBase ID miRNA Experiments Reference
MIRT023426 hsa-miR-30b-5p Sequencing 20371350
MIRT046270 hsa-miR-23b-3p CLASH 23622248
MIRT042062 hsa-miR-484 CLASH 23622248
MIRT554580 hsa-miR-335-5p PAR-CLIP 20371350
MIRT554579 hsa-miR-4311 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity IMP 22424946
GO:0005515 Function Protein binding IPI 11073942, 14660641, 20381137, 22424946, 22575674, 25259925, 25561175, 28514442, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608268 19903 ENSG00000025039
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQL2
Protein name Ras-related GTP-binding protein D (Rag D) (RagD) (EC 3.6.5.-)
Protein function 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 comp
PDB 2Q3F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04670 Gtr1_RagA 64 290 Gtr1/RagA G protein conserved region Domain
Sequence
MSQVLGKPQPQDEDDAEEEEEEDELVGLADYGDGPDSSDADPDSGTEEGVLDFSDPFSTE
VKPRILLMGLRRSGKSSIQKVVFHKMSPNETLFLESTNKICREDVSNSSFVNFQIWDFPG
QIDFFDPTFDYEMIFRGTGALIFVIDSQDDYMEALARLHLTVTRAYKVNTDINFEVFIHK
VDGLSDDHKIETQRDIHQRANDDLADAGLEKIHLSFYLTSIYDHSIFEAFSKVVQKLIPQ
LPTLENLLNIFISNSGIEKAFLFDVVSKIYIATDSTPVDMQTYELCCDMI
DVVIDISCIY
GLKEDGAGTPYDKESTAIIKLNNTTVLYLKEVTKFLALVCFVREESFERKGLIDYNFHCF
RKAIHEVFEVRMKVVKSRKVQNRLQKKKRATPNGTPRVLL
Sequence length 400
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Autophagy - animal
mTOR signaling pathway
Shigellosis
  Macroautophagy
mTOR signalling
mTORC1-mediated signalling
Energy dependent regulation of mTOR by LKB1-AMPK
TP53 Regulates Metabolic Genes
Regulation of PTEN gene transcription
Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY Pathogenic rs2127890783 RCV002468327
RCV002465474
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy Likely pathogenic rs2533173502, rs2533173218 RCV002465472
RCV003494530
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY Pathogenic rs2533173502, rs2533173234 RCV002465475
RCV002465476
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubulopathies Likely pathogenic rs2533173502 RCV006252506
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33434687 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34870494 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 34607910 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 34607910 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 21257989 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 35534828 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 34607910 Associate
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 15900300 Associate
★☆☆☆☆
Found in Text Mining only
Mouth Neoplasms Mouth neoplasm Pubtator 35421271 Associate
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma Pubtator 40321814 Associate
★☆☆☆☆
Found in Text Mining only