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

Gene ID: 54769, updated on 22-Aug-2020

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
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

Genomic context

See DIRAS2 in Genome Data Viewer
Location:
9q22.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (90609832..90642824, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (93372114..93405108, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1508 Neighboring gene long intergenic non-protein coding RNA 1501 Neighboring gene olfactory receptor family 7 subfamily E member 109 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 108 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

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
GeneReviews: Not available
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp761C07121

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NOT positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_017594.5NP_060064.2  GTP-binding protein Di-Ras2

    See identical proteins and their annotated locations for NP_060064.2

    Status: VALIDATED

    Source sequence(s)
    AK122986, AK124628, BP360709, CN365099
    Consensus CDS
    CCDS6687.1
    UniProtKB/Swiss-Prot
    Q96HU8
    Related
    ENSP00000364919.3, ENST00000375765.5
    Conserved Domains (1) summary
    cd04140
    Location:7170
    ARHI_like; A Ras homolog member I (ARHI)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    90609832..90642824 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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