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RIT2 Ras like without CAAX 2 [ Homo sapiens (human) ]

Gene ID: 6014, updated on 5-Mar-2024

Summary

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Official Symbol
RIT2provided by HGNC
Official Full Name
Ras like without CAAX 2provided by HGNC
Primary source
HGNC:HGNC:10017
See related
Ensembl:ENSG00000152214 MIM:609592; AllianceGenome:HGNC:10017
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RIN; RIBA; ROC2
Summary
RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in brain (RPKM 5.4) and adrenal (RPKM 0.9) See more
Orthologs
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Genomic context

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See RIT2 in Genome Data Viewer
Location:
18q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (42743227..43115685, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (42935007..43307454, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (40323192..40695650, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 907 Neighboring gene RNA, 5S ribosomal pseudogene 454 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:39967382-39967559 Neighboring gene Sharpr-MPRA regulatory region 1896 Neighboring gene uncharacterized LOC124904351 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:40321669-40322334 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:40323669-40324335 Neighboring gene synaptotagmin 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:41065893-41067092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:41168512-41169151 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:41339915-41340500 Neighboring gene uncharacterized LOC105372088 Neighboring gene RNA, U6 small nuclear 443, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Association between RIT2 rs16976358 Polymorphism and Autism Spectrum Disorder in Asian Populations: A Meta-analysis. Wang J, et al. Biomed Res Int, 2023. PMID 36820223, Free PMC Article
  2. RIT2: responsible and susceptible gene for neurological and psychiatric disorders. Daneshmandpour Y, et al. Mol Genet Genomics, 2018 Aug. PMID 29860660
  3. The human RIT2 core promoter short tandem repeat predominant allele is species-specific in length: a selective advantage for human evolution? Emamalizadeh B, et al. Mol Genet Genomics, 2017 Jun. PMID 28214997
  4. Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder. Hamedani SY, et al. Metab Brain Dis, 2017 Jun. PMID 28190241
  5. Genetic association study between RIT2 and Parkinson's disease in a Han Chinese population. Li JY, et al. Neurol Sci, 2017 Feb. PMID 27889863

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association between RIT2 rs16976358 Polymorphism and Autism Spectrum Disorder in Asian Populations: A Meta-analysis.
    Title: Association between RIT2 rs16976358 Polymorphism and Autism Spectrum Disorder in Asian Populations: A Meta-analysis.
  2. Association of RIT2 and RAB7L1 with Parkinson's disease: a case-control study in a Taiwanese cohort and a meta-analysis in Asian populations.
    Title: Association of RIT2 and RAB7L1 with Parkinson's disease: a case-control study in a Taiwanese cohort and a meta-analysis in Asian populations.
  3. Dabrafenib targets B-Raf, and we confirmed a protein-protein interaction between B-Raf and Rit2, which is coded by RIT2, a Parkinson's disease (PD) risk gene in Asians and Caucasians.
    Title: In silico drug screening by using genome-wide association study data repurposed dabrafenib, an anti-melanoma drug, for Parkinson's disease.
  4. RIT2 gene was recently introduced as a susceptibility gene in neurological disorders, a group of major problems in human society affecting millions of people worldwide. Several variants, including single nucleotide polymorphisms and CNVs, have been identified and studied in different populations.
    Title: RIT2: responsible and susceptible gene for neurological and psychiatric disorders.
  5. Significant association of RIT2 Polymorphisms was observed between rs12456492 and two disorders, Parkinson's disease and essential tremor
    Title: RIT2 Polymorphisms: Is There a Differential Association?
  6. An RIT2 gene variant was found to be a risk factor for autism spectrum disorder in Iranian patients.
    Title: Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder.
  7. Findings indicate for the first time, selective advantage for a human-specific allele at an short tandem repeat locus in the human RIT2 core promoter.
    Title: The human RIT2 core promoter short tandem repeat predominant allele is species-specific in length: a selective advantage for human evolution?
  8. RIT2 rs12456492 do not increase the risk of developing Parkinson's in Han Chinese.
    Title: Genetic association study between RIT2 and Parkinson's disease in a Han Chinese population.
  9. The current meta-analysis suggested that rs12456492 might be associated with increased PD risk in Asian populations, but studies using larger sample sizes and different ethnic populations will be needed to further confirm this association.
    Title: Genetic association of RIT2 rs12456492 polymorphism and Parkinson's disease susceptibility in Asian populations: a meta-analysis.
  10. findings increase the likelihood of association between Parkinson's disease and RIT2 variant in Asian populations
    Title: RIT2, a susceptibility gene for Parkinson's disease in Iranian population.
Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
EBI GWAS Catalog
Genetics of coronary artery calcification among African Americans, a meta-analysis.
EBI GWAS Catalog
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
EBI GWAS Catalog
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
EBI GWAS Catalog
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
EBI GWAS Catalog
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
EBI GWAS Catalog
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein activity IEA
Inferred from Electronic Annotation
more info
  
enables GDP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables GTPase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calmodulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables calmodulin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
NOT enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables semaphorin receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
NOT involved_in MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Ras protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in intracellular signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in maintenance of protein location in cell IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of neuron projection development IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of Cdc42 protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of calcium-mediated signaling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of endocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in small GTPase-mediated signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cell body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in dendritic tree ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane raft IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuron projection IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
GTP-binding protein Rit2
Names
GTP-binding protein Roc2
Ric-like, expressed in neurons
ras-like protein expressed in neurons
ras-like without CAAX protein 2
NP_001259006.1
NP_002921.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001272077.2 → NP_001259006.1  GTP-binding protein Rit2 isoform 2

    See identical proteins and their annotated locations for NP_001259006.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon in the 3' coding region which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    U78166, Y07565
    Consensus CDS
    CCDS62431.1
    UniProtKB/Swiss-Prot
    Q99578
    Related
    ENSP00000467217.1, ENST00000589109.5
    Conserved Domains (1) summary
    cl38936
    Location:19 → 147
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. NM_002930.4 → NP_002921.1  GTP-binding protein Rit2 isoform 1

    See identical proteins and their annotated locations for NP_002921.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    Y07565
    Consensus CDS
    CCDS11921.1
    UniProtKB/Swiss-Prot
    B2R9L1, O15295, Q8TD69, Q8WVF6, Q92964, Q99578
    Related
    ENSP00000321805.4, ENST00000326695.10
    Conserved Domains (1) summary
    cd04141
    Location:19 → 190
    Rit_Rin_Ric; Ras-like protein in all tissues (Rit), Ras-like protein in neurons (Rin) and Ras-related protein which interacts with calmodulin (Ric)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    42743227..43115685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    42935007..43307454 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99578.1 GenPept UniProtKB/Swiss-Prot:Q99578

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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