RIT2

GTP-binding protein Rit2 is a protein that in humans is encoded by the RIT2 gene.[5][6][7]

RIT2
Identifiers
AliasesRIT2, RIBA, RIN, ROC2, Ras like without CAAX 2
External IDsOMIM: 609592 MGI: 108054 HomoloGene: 2198 GeneCards: RIT2
Gene location (Human)
Chr.Chromosome 18 (human)[1]
Band18q12.3Start42,743,227 bp[1]
End43,115,691 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

6014

19762

Ensembl

ENSG00000152214

ENSMUSG00000057455

UniProt

Q99578

P70425

RefSeq (mRNA)

NM_002930
NM_001272077

NM_009065

RefSeq (protein)

NP_001259006
NP_002921

NP_033091

Location (UCSC)Chr 18: 42.74 – 43.12 MbChr 18: 30.97 – 31.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999).[supplied by OMIM][7]

RIT2 has been associated with Parkinson's disease in two large genetic studies.[8][9] An gene expression study of postmortem brain has suggested RIT2 interacts with interferon-γ signalling.[10]

Interactions

RIT2 has been shown to interact with POU4F1.[11]

References

  1. GRCh38: Ensembl release 89: ENSG00000152214 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000057455 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Lee CH, Della NG, Chew CE, Zack DJ (November 1996). "Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins". The Journal of Neuroscience. 16 (21): 6784–94. doi:10.1523/JNEUROSCI.16-21-06784.1996. PMC 6579259. PMID 8824319.
  6. Wes PD, Yu M, Montell C (November 1996). "RIC, a calmodulin-binding Ras-like GTPase". The EMBO Journal. 15 (21): 5839–48. doi:10.1002/j.1460-2075.1996.tb00971.x. PMC 452332. PMID 8918462.
  7. "Entrez Gene: RIT2 Ras-like without CAAX 2".
  8. Pankratz N, Beecham GW, DeStefano AL, Dawson TM, Doheny KF, Factor SA, Hamza TH, Hung AY, Hyman BT, Ivinson AJ, Krainc D, Latourelle JC, Clark LN, Marder K, Martin ER, Mayeux R, Ross OA, Scherzer CR, Simon DK, Tanner C, Vance JM, Wszolek ZK, Zabetian CP, Myers RH, Payami H, Scott WK, Foroud T (March 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 3354734. PMID 22451204.
  9. Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, et al. (September 2014). "Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease" (PDF). Nature Genetics. 46 (9): 989–93. doi:10.1038/ng.3043. hdl:11858/00-001M-0000-0026-AA42-8. PMC 4146673. PMID 25064009.
  10. 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. Bibcode:2014PLoSO...9k5029L. doi:10.1371/journal.pone.0115029. PMC 4262449. PMID 25493648.
  11. Calissano M, Latchman DS (August 2003). "Functional interaction between the small GTP-binding protein Rin and the N-terminal of Brn-3a transcription factor". Oncogene. 22 (35): 5408–14. doi:10.1038/sj.onc.1206635. PMID 12934100.

Further reading


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