Gene Gene information from NCBI Gene database.
Entrez ID 64121
Gene name Ras related GTP binding C
Gene symbol RRAGC
Synonyms (NCBI Gene)
GTR2LNGODSLNGOSRAGCTIB929
Chromosome 1
Chromosome location 1p34.3
Summary This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein pro
miRNA miRNA information provided by mirtarbase database.
414
miRTarBase ID miRNA Experiments Reference
MIRT019727 hsa-miR-375 Microarray 20215506
MIRT028929 hsa-miR-26b-5p Microarray 19088304
MIRT030696 hsa-miR-21-5p Microarray 18591254
MIRT051496 hsa-let-7e-5p CLASH 23622248
MIRT049975 hsa-miR-29a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
73
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IDA 28890335
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding NAS 11073942
GO:0002181 Process Cytoplasmic translation IDA 8706699, 34314702
GO:0003924 Function GTPase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608267 19902 ENSG00000116954
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HB90
Protein name Ras-related GTP-binding protein C (Rag C) (RagC) (EC 3.6.5.-) (GTPase-interacting protein 2) (TIB929)
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:27234373, PubMed:31601708, PubMed:31601
PDB 3LLU , 6CES , 6EHR , 6NZD , 6S6A , 6S6D , 6SB0 , 6SB2 , 6U62 , 6ULG , 6WJ2 , 6WJ3 , 7T3A , 7T3B , 7T3C , 7UX2 , 7UXC , 7UXH , 8DHB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04670 Gtr1_RagA 63 289 Gtr1/RagA G protein conserved region Domain
Sequence
MSLQYGAEETPLAGSYGAADSFPKDFGYGVEEEEEEAAAAGGGVGAGAGGGCGPGGADSS
KPRILLMGLRRSGKSSIQKVVFHKMSPNETLFLESTNKIYKDDISNSSFVNFQIWDFPGQ
MDFFDPTFDYEMIFRGTGALIYVIDAQDDYMEALTRLHITVSKAYKVNPDMNFEVFIHKV
DGLSDDHKIETQRDIHQRANDDLADAGLEKLHLSFYLTSIYDHSIFEAFSKVVQKLIPQL
PTLENLLNIFISNSGIEKAFLFDVVSKIYIATDSSPVDMQSYELCCDMI
DVVIDVSCIYG
LKEDGSGSAYDKESMAIIKLNNTTVLYLKEVTKFLALVCILREESFERKGLIDYNFHCFR
KAIHEVFEVGVTSHRSCGHQTSASSLKALTHNGTPRNAI
Sequence length 399
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.).
3
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
Long-Olsen-Distelmaier syndrome Likely pathogenic; Pathogenic rs2544855616, rs2544858216, rs2544855797, rs745953523 RCV003444068
RCV003444100
RCV003444101
RCV003444102
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHOMA, FOLLICULAR CTD
★★☆☆☆
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 32684241 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 27234373, 37057673 Associate
★☆☆☆☆
Found in Text Mining only
Heart Failure Heart failure Pubtator 27234373 Associate
★☆☆☆☆
Found in Text Mining only
Lissencephaly Lissencephaly Pubtator 37057673 Associate
★☆☆☆☆
Found in Text Mining only
Lymphoma Follicular Lymphoma Pubtator 27267853, 37057673 Associate
★☆☆☆☆
Found in Text Mining only
Lymphoma, Follicular Lymphoma BEFREE 26691987, 27267853
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular Lymphoma CTD_human_DG 26691987
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular, Grade 1 Lymphoma CTD_human_DG 26691987
★☆☆☆☆
Found in Text Mining only
Lymphoma, Follicular, Grade 2 Lymphoma CTD_human_DG 26691987
★☆☆☆☆
Found in Text Mining only
Lymphoma, Follicular, Grade 3 Lymphoma CTD_human_DG 26691987
★☆☆☆☆
Found in Text Mining only