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

Gene ID: 6014, updated on 18-Sep-2018

Summary

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; Vega:OTTHUMG00000132611
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

Genomic context

See RIT2 in Genome Data Viewer
Location:
18q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (42743218..43115692, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (40323183..40695676, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol 3-kinase catalytic subunit type 3 Neighboring gene long intergenic non-protein coding RNA 907 Neighboring gene RNA, 5S ribosomal pseudogene 454 Neighboring gene synaptotagmin 4 Neighboring gene uncharacterized LOC105372088 Neighboring gene RNA, U6 small nuclear 443, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001272077.1NP_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)
    BG188523, U78166, Y07565
    Consensus CDS
    CCDS62431.1
    UniProtKB/Swiss-Prot
    Q99578
    Related
    ENSP00000467217.1, OTTHUMP00000259303, ENST00000589109.5, OTTHUMT00000441640
    Conserved Domains (1) summary
    cl21455
    Location:19147
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_002930.3NP_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)
    BG188523, Y07565
    Consensus CDS
    CCDS11921.1
    UniProtKB/Swiss-Prot
    Q99578
    Related
    ENSP00000321805.4, OTTHUMP00000163445, ENST00000326695.9, OTTHUMT00000255852
    Conserved Domains (1) summary
    cd04141
    Location:19190
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    42743218..43115692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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