DIRAS2 DIRAS family GTPase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DIRAS2provided by HGNC
Official Full Name: DIRAS family GTPase 2provided by HGNC
Primary source: HGNC:HGNC:19323
See related: Ensembl:ENSG00000165023 MIM:607863; AllianceGenome:HGNC:19323
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: Di-Ras2
Summary: DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
Expression: Biased expression in brain (RPKM 52.9) and gall bladder (RPKM 3.4) See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (90609832..90642824, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (102774878..102807866, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (93372114..93405106, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Diverse Ras-related GTPase DIRAS2, downregulated by PSMD2 in a proteasome-mediated way, inhibits colorectal cancer proliferation by blocking NF-kappaB signaling.
Title: Diverse Ras-related GTPase DIRAS2, downregulated by PSMD2 in a proteasome-mediated way, inhibits colorectal cancer proliferation by blocking NF-κB signaling.
ADHD patients with DIRAS2 risk allele need more thalamic activation during emotional face-voice recognition.
Title: ADHD patients with DIRAS2 risk allele need more thalamic activation during emotional face-voice recognition.
Di-Ras2 promotes renal cell carcinoma formation by activating the mitogen-activated protein kinase pathway in the absence of von Hippel-Lindau protein.
Title: Di-Ras2 promotes renal cell carcinoma formation by activating the mitogen-activated protein kinase pathway in the absence of von Hippel-Lindau protein.
Our findings support the idea of DIRAS2 as a candidate gene for attention-deficit/hyperactivity disorder
Title: Expression of the ADHD candidate gene Diras2 in the brain.
The results from the present study imply that rs1412005 in the DIRAS2 gene is in itself a causal variant, and that it is not only functional on the molecular, but also the inhibition-related brain activation level, the latter specifically in patients suffering from ADHD.
Title: Functional Impact of An ADHD-Associated DIRAS2 Promoter Polymorphism.
Four single nucleotide polymorphisms (SNPs) and two haplotype blocks in DIRAS2 show evidence of association with attention deficit/hyperactivity disorder (ADHD) in adults.
Title: DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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 association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. 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

WI-21169 (e-PCR)
- UniSTS:70169

A007K29 (e-PCR)
- UniSTS:56440

AB062937 (e-PCR)
- UniSTS:480143

RH35827 (e-PCR)
- UniSTS:72368

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: GTP-binding protein Di-Ras2

Names: DIRAS family, GTP-binding RAS-like 2; distinct subgroup of the Ras family member 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.