RIT2

RIT2
Identifiers
Aliases RIT2, RIBA, RIN, ROC2, Ras like without CAAX 2
External IDs MGI: 108054 HomoloGene: 2198 GeneCards: RIT2
Genetically Related Diseases
lymphoblastic leukemia, Parkinson's disease[1]
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

6014

19762

Ensembl

ENSG00000152214

ENSMUSG00000057455

UniProt

Q99578

P70425

RefSeq (mRNA)

NM_002930
NM_001272077

NM_009065

RefSeq (protein)

NP_001259006.1
NP_002921.1

NP_033091.1

Location (UCSC) Chr 18: 42.74 – 43.12 Mb Chr 18: 30.97 – 31.32 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse

GTP-binding protein Rit2 is a protein that in humans is encoded by the RIT2 gene.[4][5][6]

RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999).[supplied by OMIM][6]

RIT2 has been associated with Parkinson's disease in two large genetic studies.[7][8] An gene expression study of postmortem brain has suggested RIT2 interacts with interferon-γ signalling.[9]

Interactions

RIT2 has been shown to interact with POU4F1.[10]

References

  1. "Diseases that are genetically associated with RIT2 view/edit references on wikidata".
  2. "Human PubMed Reference:".
  3. "Mouse PubMed Reference:".
  4. Lee CH, Della NG, Chew CE, Zack DJ (Nov 1996). "Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins". J Neurosci. 16 (21): 6784–94. PMID 8824319.
  5. Wes PD, Yu M, Montell C (Jan 1997). "RIC, a calmodulin-binding Ras-like GTPase". EMBO J. 15 (21): 5839–48. PMC 452332Freely accessible. PMID 8918462.
  6. 1 2 "Entrez Gene: RIT2 Ras-like without CAAX 2".
  7. Pankratz, N; Beecham, G. W.; Destefano, A. L.; Dawson, T. M.; Doheny, K. F.; Factor, S. A.; Hamza, T. H.; Hung, A. Y.; Hyman, B. T.; Ivinson, A. J.; Krainc, D; Latourelle, J. C.; Clark, L. N.; Marder, K; Martin, E. R.; Mayeux, R; Ross, O. A.; Scherzer, C. R.; Simon, D. K.; Tanner, C; Vance, J. M.; Wszolek, Z. K.; Zabetian, C. P.; Myers, R. H.; Payami, H; Scott, W. K.; Foroud, T; Pd Gwas, Consortium (2012). "Meta-analysis of Parkinson's disease: Identification of a novel locus, RIT2". Annals of Neurology. 71 (3): 370–84. doi:10.1002/ana.22687. PMC 3354734Freely accessible. PMID 22451204.
  8. Nalls, M. A.; Pankratz, N; Lill, C. M.; Do, C. B.; Hernandez, D. G.; Saad, M; Destefano, A. L.; Kara, E; Bras, J; Sharma, M; Schulte, C; Keller, M. F.; Arepalli, S; Letson, C; Edsall, C; Stefansson, H; Liu, X; Pliner, H; Lee, J. H.; Cheng, R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); Hadjigeorgiou, Georgios M; Bis, Joshua C; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); et al. (2014). "Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease". Nature Genetics. 46 (9): 989–93. doi:10.1038/ng.3043. PMC 4146673Freely accessible. PMID 25064009.
  9. Liscovitch, N; French, L (2014). "Differential Co-Expression between α-Synuclein and IFN-γ Signaling Genes across Development and in Parkinson's Disease". PLoS ONE. 9 (12): e115029. doi:10.1371/journal.pone.0115029. PMC 4262449Freely accessible. PMID 25493648.
  10. Calissano, M; Latchman D S (Aug 2003). "Functional interaction between the small GTP-binding protein Rin and the N-terminal of Brn-3a transcription factor". Oncogene. England. 22 (35): 5408–14. doi:10.1038/sj.onc.1206635. ISSN 0950-9232. PMID 12934100.

Further reading


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