RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008] See more...

Aliases for RIT2 Gene

Aliases for RIT2 Gene

  • Ras Like Without CAAX 2 2 3 5
  • Ras-Like Protein Expressed In Neurons 3 4
  • Ras-Like Without CAAX Protein 2 3 4
  • GTP-Binding Protein Rit2 3 4
  • RIBA 2 3
  • ROC2 3 4
  • RIN 3 4
  • Ric (Drosophila)-Like, Expressed In Neurons 2
  • Ric-Like, Expressed In Neurons 3
  • GTP-Binding Protein Roc2 3
  • EC 3.6.5.2 4
  • RIT2 5

External Ids for RIT2 Gene

Previous HGNC Symbols for RIT2 Gene

  • RIN

Previous GeneCards Identifiers for RIT2 Gene

  • GC18M040529
  • GC18M040109
  • GC18M040211
  • GC18M038575
  • GC18M038577
  • GC18M040323
  • GC18M037181

Summaries for RIT2 Gene

Entrez Gene Summary for RIT2 Gene

  • RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]

GeneCards Summary for RIT2 Gene

RIT2 (Ras Like Without CAAX 2) is a Protein Coding gene. Diseases associated with RIT2 include Amyotrophic Lateral Sclerosis, Juvenile, With Dementia and Angular Cheilitis. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTP binding and calmodulin binding. An important paralog of this gene is RIT1.

UniProtKB/Swiss-Prot Summary for RIT2 Gene

  • Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator.

Gene Wiki entry for RIT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIT2 Gene

Genomics for RIT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RIT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J043115 Promoter 0.8 EPDnew Ensembl 250.7 +0.1 90 0.4 GLIS1 PRDM1 ENSG00000287209 RIT2 piR-38351-232
GH18J042414 Enhancer 0.6 Ensembl ENCODE 4.7 +701.0 700981 2.5 CEBPB EP300 STAT3 JUND RIT2 RF01045-059 piR-60246-077 HSALNG0121168-002 HSALNG0121168-001 LINC00907 PIK3C3
GH18J042385 Enhancer 0.2 FANTOM5 4.7 +730.2 730163 0.2 RIT2 piR-55194-171 RF01045-059 HSALNG0121168-002 HSALNG0121168-001 LINC00907 PIK3C3
GH18J043276 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 0.1 -161.1 -161110 2 YY1 REST SIN3A ZNF189 RAD21 MIER2 EZH2 ZNF143 ZBTB17 ZBTB6 SYT4 lnc-RIT2-4 piR-61291-009 RIT2
GH18J043120 Enhancer 0.2 Ensembl 0.7 -4.0 -4010 0.2 ENSG00000287209 HSALNG0121184 RIT2 SYT4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIT2

Top Transcription factor binding sites by QIAGEN in the RIT2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • HOXA3
  • Pbx1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • S8

Genomic Locations for RIT2 Gene

Latest Assembly
chr18:42,743,227-43,115,691
(GRCh38/hg38)
Size:
372,465 bases
Orientation:
Minus strand

Previous Assembly
chr18:40,323,192-40,695,650
(GRCh37/hg19 by Entrez Gene)
Size:
372,459 bases
Orientation:
Minus strand

chr18:40,323,192-40,695,657
(GRCh37/hg19 by Ensembl)
Size:
372,466 bases
Orientation:
Minus strand

Genomic View for RIT2 Gene

Genes around RIT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIT2 Gene

Proteins for RIT2 Gene

  • Protein details for RIT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99578-RIT2_HUMAN
    Recommended name:
    GTP-binding protein Rit2
    Protein Accession:
    Q99578
    Secondary Accessions:
    • B2R9L1
    • O15295
    • Q8TD69
    • Q8WVF6
    • Q92964

    Protein attributes for RIT2 Gene

    Size:
    217 amino acids
    Molecular mass:
    24668 Da
    Quaternary structure:
    • Interacts with AFDN, 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. Interacts with POU4F1 (via N-terminus); the interaction controls POU4F1 transactivation activity on some neuronal target genes (By similarity).
    Miscellaneous:
    • Shows rapid uncatalyzed guanine nucleotide dissociation rates, which are much faster than those of most Ras subfamily members.

    Alternative splice isoforms for RIT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIT2 Gene

Post-translational modifications for RIT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RIT2 Gene

No data available for DME Specific Peptides for RIT2 Gene

Domains & Families for RIT2 Gene

Gene Families for RIT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RIT2 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • Ras small GTPase, Ras type

Suggested Antigen Peptide Sequences for RIT2 Gene

GenScript: Design optimal peptide antigens:
  • Ras-like without CAAX protein 2 (RIT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99578

UniProtKB/Swiss-Prot:

RIT2_HUMAN :
  • Belongs to the small GTPase superfamily. Ras family.
Family:
  • Belongs to the small GTPase superfamily. Ras family.
genes like me logo Genes that share domains with RIT2: view

Function for RIT2 Gene

Molecular function for RIT2 Gene

UniProtKB/Swiss-Prot Function:
Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence={ECO:0000250|UniProtKB:P70425};.

Enzyme Numbers (IUBMB) for RIT2 Gene

Phenotypes From GWAS Catalog for RIT2 Gene

Gene Ontology (GO) - Molecular Function for RIT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003924 GTPase activity IEA,NAS 8824319
GO:0005515 protein binding IPI 21957239
GO:0005516 calmodulin binding ISS --
genes like me logo Genes that share ontologies with RIT2: view
genes like me logo Genes that share phenotypes with RIT2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIT2

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RIT2 Gene

Localization for RIT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIT2 Gene

Nucleus. Cell membrane. Note=Colocalizes with PLXNB3 at the plasma membrane (PubMed:16122393). {ECO:0000269 PubMed:16122393}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIT2 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RIT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0005886 plasma membrane ISS,TAS 8824319
GO:0016020 membrane IEA --
GO:0043005 neuron projection IDA 21957239
genes like me logo Genes that share ontologies with RIT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RIT2 Gene

Pathways & Interactions for RIT2 Gene

genes like me logo Genes that share pathways with RIT2: view

SIGNOR curated interactions for RIT2 Gene

Activates:

Gene Ontology (GO) - Biological Process for RIT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 NOT MAPK cascade ISS --
GO:0001932 regulation of protein phosphorylation IEA --
GO:0007165 signal transduction IEA --
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway IEA --
GO:0007264 small GTPase mediated signal transduction NAS 8824319
genes like me logo Genes that share ontologies with RIT2: view

Drugs & Compounds for RIT2 Gene

(4) Drugs for RIT2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RIT2: view

Transcripts for RIT2 Gene

mRNA/cDNA for RIT2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIT2

Alternative Splicing Database (ASD) splice patterns (SP) for RIT2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1:
SP2: -

Relevant External Links for RIT2 Gene

GeneLoc Exon Structure for
RIT2

Expression for RIT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIT2 Gene

mRNA differential expression in normal tissues according to GTEx for RIT2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x11.0), Brain - Cerebellum (x8.6), Brain - Frontal Cortex (BA9) (x4.7), Brain - Nucleus accumbens (basal ganglia) (x4.7), Brain - Hypothalamus (x4.4), and Brain - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for RIT2 Gene

This gene is overexpressed in Heart (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RIT2 Gene



Protein tissue co-expression partners for RIT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIT2

SOURCE GeneReport for Unigene cluster for RIT2 Gene:

Hs.464985

mRNA Expression by UniProt/SwissProt for RIT2 Gene:

Q99578-RIT2_HUMAN
Tissue specificity: Neuron-specific.

Evidence on tissue expression from TISSUES for RIT2 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with RIT2: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RIT2 Gene

Orthologs for RIT2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RIT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RIT2 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RIT2 29 30
  • 91.4 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RIT2 30
  • 91 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RIT2 30
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rit2 29 16 30
  • 87.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rit2 29
  • 87.04 (n)
Cow
(Bos Taurus)
Mammalia -- 30
  • 30 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves RIT2 29 30
  • 79.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RIT2 30
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005159 29
  • 61.33 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ric 29 30
  • 61.11 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rap-3 30
  • 34 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSR1 30
  • 32 (a)
OneToMany
Species where no ortholog for RIT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for RIT2 Gene

ENSEMBL:
Gene Tree for RIT2 (if available)
TreeFam:
Gene Tree for RIT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RIT2: view image
Alliance of Genome Resources:
Additional Orthologs for RIT2

Paralogs for RIT2 Gene

genes like me logo Genes that share paralogs with RIT2: view

Variants for RIT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIT2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs10633642 Benign: not provided 42,923,770(-) GA/G
NM_002930.4(RIT2):c.235-8del
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RIT2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RIT2 Gene

Variant ID Type Subtype PubMed ID
esv3360823 CNV insertion 20981092
esv3583031 CNV loss 25503493
esv3642363 CNV loss 21293372
esv3642364 CNV loss 21293372
esv3642365 CNV loss 21293372
esv3642366 CNV gain 21293372
esv990550 CNV insertion 20482838
nsv1113922 CNV deletion 24896259
nsv1117199 CNV tandem duplication 24896259
nsv131143 CNV deletion 16902084
nsv2269 CNV deletion 18451855
nsv458058 CNV loss 19166990
nsv458059 CNV loss 19166990
nsv458060 CNV loss 19166990
nsv470418 CNV loss 18288195
nsv519875 CNV gain 19592680
nsv522338 CNV loss 19592680
nsv526691 CNV loss 19592680
nsv576765 CNV loss 21841781
nsv576766 CNV loss 21841781
nsv576767 CNV loss 21841781
nsv576768 CNV loss 21841781
nsv576769 CNV loss 21841781
nsv833632 CNV loss 17160897
nsv833633 CNV gain 17160897
nsv953534 CNV duplication 24416366

Variation tolerance for RIT2 Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIT2
Leiden Open Variation Database (LOVD)
RIT2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIT2 Gene

Disorders for RIT2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RIT2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis, juvenile, with dementia
  • als-dementia complex
angular cheilitis
  • angular cheilosis
shipyard eye
  • ekc
ehrlichiosis
  • human ehrlichiosis
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards
Search RIT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RIT2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RIT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RIT2 Gene

Publications for RIT2 Gene

  1. RIC, a calmodulin-binding Ras-like GTPase. (PMID: 8918462) Wes PD … Montell C (The EMBO journal 1996) 2 3 4 22
  2. Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins. (PMID: 8824319) Lee CH … Zack DJ (The Journal of neuroscience : the official journal of the Society for Neuroscience 1996) 2 3 4
  3. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J … Platt A (The pharmacogenomics journal 2013) 3 40
  4. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. (PMID: 22451204) Pankratz N … PD GWAS Consortium (Annals of neurology 2012) 3 40
  5. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PMID: 21738487) Do CB … Eriksson N (PLoS genetics 2011) 3 40

Products for RIT2 Gene

Sources for RIT2 Gene