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Aliases for DIRAS2 Gene

Aliases for DIRAS2 Gene

  • DIRAS Family GTPase 2 2 3 5
  • Distinct Subgroup Of The Ras Family Member 2 3 4
  • DIRAS Family, GTP-Binding RAS-Like 2 2 3
  • GTP-Binding Protein Di-Ras2 3
  • Di-Ras2 3

External Ids for DIRAS2 Gene

Previous GeneCards Identifiers for DIRAS2 Gene

  • GC09M085101
  • GC09M086672
  • GC09M088716
  • GC09M088717
  • GC09M090451
  • GC09M092411
  • GC09M093373
  • GC09M063052
  • GC09M093374
  • GC09M093379
  • GC09M093391
  • GC09M093405

Summaries for DIRAS2 Gene

Entrez Gene Summary for DIRAS2 Gene

  • DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]

GeneCards Summary for DIRAS2 Gene

DIRAS2 (DIRAS Family GTPase 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is DIRAS1.

UniProtKB/Swiss-Prot for DIRAS2 Gene

  • Displays low GTPase activity and exists predominantly in the GTP-bound form.

Additional gene information for DIRAS2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIRAS2 Gene

Genomics for DIRAS2 Gene

GeneHancer (GH) Regulatory Elements for DIRAS2 Gene

Promoters and enhancers for DIRAS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J090642 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +0.1 111 1.2 PKNOX1 SIN3A RAD21 YY1 ZNF335 ZNF143 EGR2 SMARCA5 SP3 RXRA DIRAS2 GC09M090680 GC09P090965
GH09J090643 Enhancer 0.4 ENCODE 650.7 +1.0 991 0.2 MXI1 POLR2A DIRAS2 GC09M090680 GC09P090965
GH09J090607 Enhancer 0.6 ENCODE 12.1 +35.1 35064 1.5 FOXA2 RXRA MAX REST GABPA SP1 JUND ZNF316 ATF3 EGR1 DIRAS2 GC09P090965 GC09P090963 PIR60421
GH09J090577 Enhancer 0.3 ENCODE 11.7 +64.7 64738 1 GATA3 DIRAS2 PIR57122 LINC01501 PIRC46
GH09J090583 Enhancer 0.3 FANTOM5 10.7 +59.2 59230 0.1 GC09M090659 GC09M090665 GC09M090669 GC09M090671 GC09M090677 GC09M090678 GC09P090955 GC09P090957 GC09P090958 GC09P090960
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DIRAS2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DIRAS2 Gene

Genomic Locations for DIRAS2 Gene
chr9:90,609,832-90,643,105
(GRCh38/hg38)
Size:
33,274 bases
Orientation:
Minus strand
chr9:93,372,114-93,405,386
(GRCh37/hg19)
Size:
33,273 bases
Orientation:
Minus strand

Genomic View for DIRAS2 Gene

Genes around DIRAS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIRAS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIRAS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIRAS2 Gene

Proteins for DIRAS2 Gene

  • Protein details for DIRAS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HU8-DIRA2_HUMAN
    Recommended name:
    GTP-binding protein Di-Ras2
    Protein Accession:
    Q96HU8
    Secondary Accessions:
    • B3KVM2

    Protein attributes for DIRAS2 Gene

    Size:
    199 amino acids
    Molecular mass:
    22485 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DIRAS2 Gene

neXtProt entry for DIRAS2 Gene

Post-translational modifications for DIRAS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DIRAS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DIRAS2 Gene

Domains & Families for DIRAS2 Gene

Gene Families for DIRAS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DIRAS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96HU8

UniProtKB/Swiss-Prot:

DIRA2_HUMAN :
  • Belongs to the small GTPase superfamily. Di-Ras family.
Family:
  • Belongs to the small GTPase superfamily. Di-Ras family.
genes like me logo Genes that share domains with DIRAS2: view

Function for DIRAS2 Gene

Molecular function for DIRAS2 Gene

UniProtKB/Swiss-Prot Function:
Displays low GTPase activity and exists predominantly in the GTP-bound form.

Phenotypes From GWAS Catalog for DIRAS2 Gene

Gene Ontology (GO) - Molecular Function for DIRAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IDA,IEA 12194967
genes like me logo Genes that share ontologies with DIRAS2: view
genes like me logo Genes that share phenotypes with DIRAS2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIRAS2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DIRAS2 Gene

Localization for DIRAS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIRAS2 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIRAS2 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DIRAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,IEA 12194967
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DIRAS2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DIRAS2 Gene

Pathways & Interactions for DIRAS2 Gene

SuperPathways for DIRAS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DIRAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0043406 NOT positive regulation of MAP kinase activity IDA 12194967
genes like me logo Genes that share ontologies with DIRAS2: view

No data available for Pathways by source and SIGNOR curated interactions for DIRAS2 Gene

Drugs & Compounds for DIRAS2 Gene

(1) Drugs for DIRAS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DIRAS2: view

Transcripts for DIRAS2 Gene

mRNA/cDNA for DIRAS2 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(59) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DIRAS2 Gene

DIRAS family, GTP-binding RAS-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIRAS2

Alternative Splicing Database (ASD) splice patterns (SP) for DIRAS2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d
SP1: - -
SP2: -
SP3: - - -
SP4: - -

Relevant External Links for DIRAS2 Gene

GeneLoc Exon Structure for
DIRAS2
ECgene alternative splicing isoforms for
DIRAS2

Expression for DIRAS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DIRAS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DIRAS2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x12.1), Brain - Cerebellum (x8.6), Brain - Frontal Cortex (BA9) (x8.1), Brain - Anterior cingulate cortex (BA24) (x6.0), and Brain - Cortex (x5.3).

Protein differential expression in normal tissues from HIPED for DIRAS2 Gene

This gene is overexpressed in Frontal cortex (28.4), Bone marrow stromal cell (20.1), and Retina (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DIRAS2 Gene



Protein tissue co-expression partners for DIRAS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DIRAS2 Gene:

DIRAS2

SOURCE GeneReport for Unigene cluster for DIRAS2 Gene:

Hs.165636

mRNA Expression by UniProt/SwissProt for DIRAS2 Gene:

Q96HU8-DIRA2_HUMAN
Tissue specificity: Highly expressed in brain.

Evidence on tissue expression from TISSUES for DIRAS2 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with DIRAS2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DIRAS2 Gene

Orthologs for DIRAS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIRAS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIRAS2 34 33
  • 99.16 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIRAS2 34
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Diras2 16 34 33
  • 91.29 (n)
dog
(Canis familiaris)
Mammalia DIRAS2 34 33
  • 91.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Diras2 33
  • 90.79 (n)
cow
(Bos Taurus)
Mammalia DIRAS2 34 33
  • 90.45 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DIRAS2 34 33
  • 80.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIRAS2 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia diras2 33
  • 77.39 (n)
zebrafish
(Danio rerio)
Actinopterygii DIRAS2 34
  • 89 (a)
OneToOne
LOC560940 33
  • 81.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8500 34 33
  • 70.83 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005302 33
  • 69.66 (n)
worm
(Caenorhabditis elegans)
Secernentea drn-1 34
  • 52 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToMany
Cin.5351 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5351 33
Species where no ortholog for DIRAS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DIRAS2 Gene

ENSEMBL:
Gene Tree for DIRAS2 (if available)
TreeFam:
Gene Tree for DIRAS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DIRAS2: view image

Paralogs for DIRAS2 Gene

Variants for DIRAS2 Gene

Sequence variations from dbSNP and Humsavar for DIRAS2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000020926 -- 90,628,047(-) A/T intron_variant
rs1000059451 -- 90,620,939(-) A/G intron_variant
rs1000189181 -- 90,631,184(-) T/C intron_variant
rs1000238786 -- 90,627,163(-) T/C/G intron_variant
rs1000261639 -- 90,643,112(-) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DIRAS2 Gene

Variant ID Type Subtype PubMed ID
nsv1046989 CNV gain 25217958

Variation tolerance for DIRAS2 Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DIRAS2 Gene

Human Gene Mutation Database (HGMD)
DIRAS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIRAS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIRAS2 Gene

Disorders for DIRAS2 Gene

Additional Disease Information for DIRAS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DIRAS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DIRAS2 Gene

Publications for DIRAS2 Gene

  1. Di-Ras, a distinct subgroup of ras family GTPases with unique biochemical properties. (PMID: 12194967) Kontani K … Katada T (The Journal of biological chemistry 2002) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D … Ferrucci L (PLoS genetics 2008) 3 44 58
  4. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PMID: 17903297) Seshadri S … Wolf PA (BMC medical genetics 2007) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for DIRAS2 Gene

Sources for DIRAS2 Gene

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