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

Gene ID: 6014, updated on 6-May-2021

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
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

See RIT2 in Genome Data Viewer
Location:
18q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (42743227..43115685, complement)
105.20201022 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 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
GeneReviews: Not available
Genetics of coronary artery calcification among African Americans, a meta-analysis.
GeneReviews: Not available
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
GeneReviews: Not available
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
GeneReviews: Not available
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
GeneReviews: Not available
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
GeneReviews: Not available
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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 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 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 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
PubMed 
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

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_001272077.2NP_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:19147
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_002930.4NP_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
    Q99578
    Related
    ENSP00000321805.4, ENST00000326695.10
    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 Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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