Human Gene RIT2 (ENST00000589109.5) from GENCODE V44
  Description: Homo sapiens Ras like without CAAX 2 (RIT2), transcript variant 2, mRNA. (from RefSeq NM_001272077)
RefSeq Summary (NM_001272077): RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008].
Gencode Transcript: ENST00000589109.5
Gencode Gene: ENSG00000152214.14
Transcript (Including UTRs)
   Position: hg38 chr18:42,743,227-43,115,691 Size: 372,465 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr18:42,920,725-43,115,519 Size: 194,795 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:42,743,227-43,115,691)mRNA (may differ from genome)Protein (153 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RIT2_HUMAN
DESCRIPTION: RecName: Full=GTP-binding protein Rit2; AltName: Full=Ras-like protein expressed in neurons; AltName: Full=Ras-like without CAAX protein 2;
FUNCTION: Binds and exchanges GTP and GDP (By similarity).
SUBUNIT: Interacts with MLLT4, the C-terminal domain of RALGDS and RLF, but not with RIN1 and PIK3CA. RLF binds exclusively to the active GTP-bound form (By similarity). Binds calmodulin. Interacts with PLXNB3.
SUBCELLULAR LOCATION: Nucleus. Cell membrane. Note=Colocalizes with PLXNB3 at the plasma membrane.
TISSUE SPECIFICITY: Neuron-specific.
MISCELLANEOUS: Shows rapid uncatalyzed guanine nucleotide dissociation rates, which are much faster than those of most Ras subfamily members (By similarity).
SIMILARITY: Belongs to the small GTPase superfamily. Ras family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RIT2
Diseases sorted by gene-association score: ehrlichiosis (2), parkinson disease susceptibility (2), gastrointestinal system disease (1), granulomatous hepatitis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.65 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 134.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.30172-0.304 Picture PostScript Text
3' UTR -123.20522-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005225 - Small_GTP-bd_dom
IPR001806 - Small_GTPase
IPR020849 - Small_GTPase_Ras

Pfam Domains:
PF00071 - Ras family

ModBase Predicted Comparative 3D Structure on Q99578
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003682 chromatin binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005525 GTP binding
GO:0030215 semaphorin receptor binding
GO:0042802 identical protein binding

Biological Process:
GO:0001932 regulation of protein phosphorylation
GO:0007165 signal transduction
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0007265 Ras protein signal transduction
GO:0007268 chemical synaptic transmission
GO:0010976 positive regulation of neuron projection development
GO:0010977 negative regulation of neuron projection development
GO:0030100 regulation of endocytosis
GO:0032489 regulation of Cdc42 protein signal transduction
GO:0032507 maintenance of protein location in cell
GO:0035556 intracellular signal transduction
GO:0043410 positive regulation of MAPK cascade
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050848 regulation of calcium-mediated signaling
GO:0000165 MAPK cascade

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0043005 neuron projection
GO:0044297 cell body
GO:0045121 membrane raft
GO:0097447 dendritic tree


-  Descriptions from all associated GenBank mRNAs
  U71204 - Human rin mRNA, complete cds.
U78164 - Human Ras-like small GTPase RIBA mRNA, complete cds.
U78166 - Human Ras-like small GTPase RIBA mRNA, alternatively spliced, complete cds.
Y07565 - H.sapiens mRNA for RIN protein.
BC018060 - Homo sapiens Ras-like without CAAX 2, mRNA (cDNA clone MGC:26503 IMAGE:4816017), complete cds.
AF493922 - Homo sapiens Ras family small GTP binding protein RIN (RIN) mRNA, complete cds.
AY563951 - Homo sapiens Ras family small GTP binding protein RIN mRNA, complete cds.
AK313823 - Homo sapiens cDNA, FLJ94444, Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.
KJ897471 - Synthetic construct Homo sapiens clone ccsbBroadEn_06865 RIT2 gene, encodes complete protein.
JF432616 - Synthetic construct Homo sapiens clone IMAGE:100073853 Ras-like without CAAX 2 (RIT2) gene, encodes complete protein.
AB590857 - Synthetic construct DNA, clone: pFN21AB6975, Homo sapiens RIT2 gene for Ras-like without CAAX 2, without stop codon, in Flexi system.
JD301102 - Sequence 282126 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q99578 (Reactome details) participates in the following event(s):

R-HSA-187697 TRKA recruits RIT and RIN
R-HSA-187698 RIT/RIN-GTP binds B-RAF
R-HSA-187746 RIT/RIN are activated
R-HSA-187706 Signalling to p38 via RIT and RIN
R-HSA-187687 Signalling to ERKs
R-HSA-187037 Signaling by NTRK1 (TRKA)
R-HSA-166520 Signaling by NTRKs
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9L1, ENST00000589109.1, ENST00000589109.2, ENST00000589109.3, ENST00000589109.4, NM_001272077, O15295, Q8TD69, Q8WVF6, Q92964, Q99578, RIN, RIT2_HUMAN, ROC2, uc010dnf.1, uc010dnf.2, uc010dnf.3, uc010dnf.4, uc010dnf.5
UCSC ID: ENST00000589109.5
RefSeq Accession: NM_001272077
Protein: Q99578 (aka RIT2_HUMAN)
CCDS: CCDS62431.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.