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

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; 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: mouse all
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Genomic context

Location:: 18q12.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (42743227..43115685, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (42935007..43307454, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (40323192..40695650, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18S65 (e-PCR), detects polymorphism
- UniSTS:44034

SHGC-53572 (e-PCR)
- UniSTS:65819

074ZA9 (e-PCR)
- UniSTS:73502

AFM312we9 (e-PCR)
- UniSTS:4641

RH28698 (e-PCR)
- UniSTS:85297

SHGC-146815 (e-PCR)
- UniSTS:175448

SHGC-101555 (e-PCR)
- UniSTS:170595

RH123932 (e-PCR)
- UniSTS:136307

RH70961 (e-PCR)
- UniSTS:41079

D18S65 (e-PCR), detects polymorphism
- UniSTS:44697

G18030 (e-PCR)
- UniSTS:68056

G63135 (e-PCR)
- UniSTS:140253

RH45940 (e-PCR)
- UniSTS:90868

D18S1123 (e-PCR)
- UniSTS:8951

SHGC-104640 (e-PCR)
- UniSTS:168951

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 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

EC 3.6.5.2

NP_002921.1

EC 3.6.5.2

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)

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
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)