This gene encodes a member of the ras superfamily. This gene is imprinted gene with monoallelic expression of the paternal allele which is associated with growth suppression. The encoded protein acts as a tumor suppressor whose function is abrogated in many ovarian and breast cancers. This protein may also play a role autophagy in certain cancer cells by regulating the autophag... See more...

Aliases for DIRAS3 Gene

Aliases for DIRAS3 Gene

  • DIRAS Family GTPase 3 2 3 5
  • NOEY2 2 3 4
  • Distinct Subgroup Of The Ras Family Member 3 3 4
  • DIRAS Family, GTP-Binding RAS-Like 3 2 3
  • Rho-Related GTP-Binding Protein RhoI 3 4
  • Ras Homolog Gene Family, Member I 2 3
  • GTP-Binding Protein Di-Ras3 3 4
  • ARHI 3 4
  • DIRAS3 5
  • RHOI 4

External Ids for DIRAS3 Gene

Previous HGNC Symbols for DIRAS3 Gene

  • ARHI

Previous GeneCards Identifiers for DIRAS3 Gene

  • GC01M068224
  • GC01M068284
  • GC01M068511
  • GC01M066622

Summaries for DIRAS3 Gene

Entrez Gene Summary for DIRAS3 Gene

  • This gene encodes a member of the ras superfamily. This gene is imprinted gene with monoallelic expression of the paternal allele which is associated with growth suppression. The encoded protein acts as a tumor suppressor whose function is abrogated in many ovarian and breast cancers. This protein may also play a role autophagy in certain cancer cells by regulating the autophagosome initiation complex. [provided by RefSeq, Nov 2015]

GeneCards Summary for DIRAS3 Gene

DIRAS3 (DIRAS Family GTPase 3) is a Protein Coding gene. Diseases associated with DIRAS3 include Glioblastoma Multiforme and Ovarian Cancer. Among its related pathways are Guidance Cues and Growth Cone Motility and GPCR Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is DIRAS2.

Additional gene information for DIRAS3 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DIRAS3 Gene

Genomics for DIRAS3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DIRAS3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DIRAS3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DIRAS3

Top Transcription factor binding sites by QIAGEN in the DIRAS3 gene promoter:
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for DIRAS3 Gene

Genomic Locations for DIRAS3 Gene
chr1:68,045,886-68,051,631
(GRCh38/hg38)
Size:
5,746 bases
Orientation:
Minus strand
chr1:68,511,645-68,517,314
(GRCh37/hg19)
Size:
5,670 bases
Orientation:
Minus strand

Genomic View for DIRAS3 Gene

Genes around DIRAS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIRAS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIRAS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIRAS3 Gene

Proteins for DIRAS3 Gene

  • Protein details for DIRAS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95661-DIRA3_HUMAN
    Recommended name:
    GTP-binding protein Di-Ras3
    Protein Accession:
    O95661
    Secondary Accessions:
    • B3KMP3

    Protein attributes for DIRAS3 Gene

    Size:
    229 amino acids
    Molecular mass:
    25861 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DIRAS3 Gene

neXtProt entry for DIRAS3 Gene

Post-translational modifications for DIRAS3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DIRAS3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DIRAS3 Gene

Domains & Families for DIRAS3 Gene

Gene Families for DIRAS3 Gene

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

Protein Domains for DIRAS3 Gene

Suggested Antigen Peptide Sequences for DIRAS3 Gene

GenScript: Design optimal peptide antigens:
  • Rho-related GTP-binding protein RhoI (DIRA3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95661

UniProtKB/Swiss-Prot:

DIRA3_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 DIRAS3: view

Function for DIRAS3 Gene

Phenotypes From GWAS Catalog for DIRAS3 Gene

Gene Ontology (GO) - Molecular Function for DIRAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS,IBA 21873635
GO:0005515 protein binding IPI 21643014
GO:0005525 GTP binding IBA 21873635
GO:0019003 GDP binding IBA 21873635
genes like me logo Genes that share ontologies with DIRAS3: view
genes like me logo Genes that share phenotypes with DIRAS3: view

Animal Model Products

CRISPR Products

miRNA for DIRAS3 Gene

miRTarBase miRNAs that target DIRAS3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIRAS3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DIRAS3 Gene

Localization for DIRAS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIRAS3 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 DIRAS3 gene
Compartment Confidence
plasma membrane 4
mitochondrion 3
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DIRAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DIRAS3: view

Pathways & Interactions for DIRAS3 Gene

PathCards logo

SuperPathways for DIRAS3 Gene

SuperPathway Contained pathways
1 G-AlphaQ Signaling
.47
.47
.40
2 GPCR Pathway
.73
.62
.59
3 ERK Signaling
.61
.51
.49
4 Actin Nucleation by ARP-WASP Complex
.66
.66
5 Apoptotic Pathways in Synovial Fibroblasts
.64
.62
genes like me logo Genes that share pathways with DIRAS3: view

Pathways by source for DIRAS3 Gene

33 Qiagen pathways for DIRAS3 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of PKC through GPCR
  • Antioxidant Action of Vitamin-C

Gene Ontology (GO) - Biological Process for DIRAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity TAS 9874798
GO:0006349 regulation of gene expression by genetic imprinting TAS 9874798
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction TAS 9874798
genes like me logo Genes that share ontologies with DIRAS3: view

No data available for SIGNOR curated interactions for DIRAS3 Gene

Drugs & Compounds for DIRAS3 Gene

No Compound Related Data Available

Transcripts for DIRAS3 Gene

mRNA/cDNA for DIRAS3 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIRAS3

Alternative Splicing Database (ASD) splice patterns (SP) for DIRAS3 Gene

No ASD Table

Relevant External Links for DIRAS3 Gene

GeneLoc Exon Structure for
DIRAS3

Expression for DIRAS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DIRAS3 Gene

mRNA differential expression in normal tissues according to GTEx for DIRAS3 Gene

This gene is overexpressed in Brain - Hypothalamus (x15.3), Brain - Nucleus accumbens (basal ganglia) (x6.1), and Pituitary (x5.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DIRAS3

SOURCE GeneReport for Unigene cluster for DIRAS3 Gene:

Hs.194695

mRNA Expression by UniProt/SwissProt for DIRAS3 Gene:

O95661-DIRA3_HUMAN
Tissue specificity: Expressed in normal ovarian and breast epithelial cells but not in ovarian and breast cancers.

Evidence on tissue expression from TISSUES for DIRAS3 Gene

  • Bone marrow(4.3)
  • Nervous system(4)
  • Skin(3)
  • Heart(2.1)
  • Muscle(2.1)
  • Intestine(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with DIRAS3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DIRAS3 Gene

Orthologs for DIRAS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIRAS3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DIRAS3 30 31
  • 99.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DIRAS3 30 31
  • 76.75 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 27 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves RAP2B 31
  • 27 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 51 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-27j5.5 31
  • 15 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG8500 31
  • 39 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea drn-1 31
  • 41 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for DIRAS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Dog (Canis familiaris)
  • 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)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for DIRAS3 Gene

ENSEMBL:
Gene Tree for DIRAS3 (if available)
TreeFam:
Gene Tree for DIRAS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DIRAS3: view image

Paralogs for DIRAS3 Gene

(17) SIMAP similar genes for DIRAS3 Gene using alignment to 1 proteins:

  • DIRA3_HUMAN
genes like me logo Genes that share paralogs with DIRAS3: view

Variants for DIRAS3 Gene

Additional dbSNP identifiers (rs#s) for DIRAS3 Gene

Variation tolerance for DIRAS3 Gene

Residual Variation Intolerance Score: 24.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DIRAS3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIRAS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for DIRAS3 Gene

Disorders for DIRAS3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DIRAS3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
glioblastoma multiforme
  • adult glioblastoma multiforme
ovarian cancer
  • ovarian cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DIRAS3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DIRAS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DIRAS3 Gene

Publications for DIRAS3 Gene

  1. NOEY2 (ARHI), an imprinted putative tumor suppressor gene in ovarian and breast carcinomas. (PMID: 9874798) Yu Y … Bast RC (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23
  2. ARHI (DIRAS3), an imprinted tumour suppressor gene, binds to importins and blocks nuclear import of cargo proteins. (PMID: 19435463) Huang S … Yu Y (Bioscience reports 2009) 3 23
  3. NOEY2 mutations in primary breast cancers and breast hyperplasia. (PMID: 19482475) Yang J … Li T (Breast (Edinburgh, Scotland) 2009) 3 41
  4. Frequent biallelic inactivation and transcriptional silencing of the DIRAS3 gene at 1p31 in oligodendroglial tumors with 1p loss. (PMID: 18302158) Riemenschneider MJ … Reifenberger G (International journal of cancer 2008) 3 23
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for DIRAS3 Gene

Sources for DIRAS3 Gene