Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between t... See more...

Aliases for ARHGDIB Gene

Aliases for ARHGDIB Gene

  • Rho GDP Dissociation Inhibitor Beta 2 3 5
  • Ly-GDI 2 3 4
  • Rho GDP Dissociation Inhibitor (GDI) Beta 2 3
  • Rho GDP-Dissociation Inhibitor 2 3 4
  • Rho-GDI Beta 3 4
  • Rho GDI 2 3 4
  • RAP1GN1 3 4
  • RhoGDI2 2 3
  • GDIA2 3 4
  • GDID4 3 4
  • ARHGDIB 5
  • LYGDI 3
  • D4 3

External Ids for ARHGDIB Gene

Previous HGNC Symbols for ARHGDIB Gene

  • RAP1GN1
  • GDIA2
  • GDID4

Previous GeneCards Identifiers for ARHGDIB Gene

  • GC12M014834
  • GC12M015239
  • GC12M014995
  • GC12M014986
  • GC12M015094
  • GC12M014864

Summaries for ARHGDIB Gene

Entrez Gene Summary for ARHGDIB Gene

  • Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]

GeneCards Summary for ARHGDIB Gene

ARHGDIB (Rho GDP Dissociation Inhibitor Beta) is a Protein Coding gene. Diseases associated with ARHGDIB include Severe Congenital Neutropenia. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTPase activity and Rho GDP-dissociation inhibitor activity. An important paralog of this gene is ARHGDIG.

UniProtKB/Swiss-Prot Summary for ARHGDIB Gene

  • Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them (PubMed:8356058, PubMed:7512369). Regulates reorganization of the actin cytoskeleton mediated by Rho family members (PubMed:8262133).

Gene Wiki entry for ARHGDIB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGDIB Gene

Genomics for ARHGDIB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGDIB 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
GH12J014945 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 272.7 +6.4 6414 19.1 BCLAF1 SP1 JUND ZNF592 POLR2A YY1 BCL11A SMAD5 SIN3A TRIM22 ARHGDIB ERP27 MGP PDE6H WBP11 ART4 H2AJ H4-16 SMCO3 C12orf60
GH12J015001 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE CraniofacialAtlas 17.9 -40.3 -40273 1.2 BCL6 TAF1 RAD21 EZH2 CTCF LINC01489 ARHGDIB ART4 PDE6H ENSG00000256339 SMCO3 H2AJ H4-16 MGP C12orf60
GH12J014883 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 10.4 +76.8 76757 3.2 ZNF217 BCL11A MBD2 CTBP1 EBF1 CBFB GATA3 SMARCE1 POLR2A JUND MGP lnc-ERP27-1 ENSG00000256339 ERP27 PDE6H ART4 SMCO3 ARHGDIB H2AJ H4-16
GH12J014937 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 11.4 +22.7 22658 3.9 CTCF SMC3 BCL6 NFATC1 RAD21 SPI1 POLR2A ZNF143 ERP27 ARHGDIB PDE6H H4-16 ENSG00000256339 MGP C12orf60 HSALNG0089535
GH12J014927 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 11 +32.8 32754 2.4 JUND ZNF217 ELF1 CTBP1 SMARCE1 DPF2 SP1 ZSCAN4 ZHX2 RAD21 ERP27 MGP C12orf60 ARHGDIB PDE6H ENSG00000256339 piR-61288-003
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the ARHGDIB gene promoter:
  • AML1a
  • ARP-1
  • HFH-1
  • Nkx6-1
  • Pbx1a
  • PPAR-gamma1
  • PPAR-gamma2
  • S8
  • STAT5A

Genomic Locations for ARHGDIB Gene

Latest Assembly
chr12:14,942,015-14,961,728
(GRCh38/hg38)
Size:
19,714 bases
Orientation:
Minus strand

Previous Assembly
chr12:15,094,949-15,114,535
(GRCh37/hg19 by Entrez Gene)
Size:
19,587 bases
Orientation:
Minus strand

chr12:15,094,951-15,114,662
(GRCh37/hg19 by Ensembl)
Size:
19,712 bases
Orientation:
Minus strand

Genomic View for ARHGDIB Gene

Genes around ARHGDIB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ARHGDIB Gene

Proteins for ARHGDIB Gene

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

    Protein Symbol:
    P52566-GDIR2_HUMAN
    Recommended name:
    Rho GDP-dissociation inhibitor 2
    Protein Accession:
    P52566
    Secondary Accessions:
    • B5BU79

    Protein attributes for ARHGDIB Gene

    Size:
    201 amino acids
    Molecular mass:
    22988 Da
    Quaternary structure:
    • Interacts with RHOA (PubMed:20400958). Interacts with RAC1 (PubMed:7512369). Interacts with RAC2 (PubMed:10655614). Interacts with CDC42 (PubMed:7512369).

    Three dimensional structures from OCA and Proteopedia for ARHGDIB Gene

neXtProt entry for ARHGDIB Gene

Post-translational modifications for ARHGDIB Gene

  • Ubiquitination at Lys33, Lys50, Lys63, Lys102, Lys124, Lys138, Lys164, and Lys175
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARHGDIB Gene

Domains & Families for ARHGDIB Gene

Gene Families for ARHGDIB Gene

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

Protein Domains for ARHGDIB Gene

InterPro:
Blocks:
  • RHO protein GDP dissociation inhibitor signature

Suggested Antigen Peptide Sequences for ARHGDIB Gene

GenScript: Design optimal peptide antigens:
  • Rho-GDI beta (GDIR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52566

UniProtKB/Swiss-Prot:

GDIR2_HUMAN :
  • Belongs to the Rho GDI family.
Family:
  • Belongs to the Rho GDI family.
genes like me logo Genes that share domains with ARHGDIB: view

Function for ARHGDIB Gene

Molecular function for ARHGDIB Gene

UniProtKB/Swiss-Prot Function:
Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them (PubMed:8356058, PubMed:7512369). Regulates reorganization of the actin cytoskeleton mediated by Rho family members (PubMed:8262133).
GENATLAS Biochemistry:
Rho GDP-dissociation inhibitor (GDI) beta,aplysia related,preferentially expressed in hematopoietic cells (signal transduction)

Gene Ontology (GO) - Molecular Function for ARHGDIB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IMP 24554735
GO:0005094 Rho GDP-dissociation inhibitor activity IEA,IDA 7512369
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 7512369
GO:0031267 small GTPase binding IDA 7512369
genes like me logo Genes that share ontologies with ARHGDIB: view
genes like me logo Genes that share phenotypes with ARHGDIB: view

Animal Models for ARHGDIB Gene

MGI Knock Outs for ARHGDIB:

miRNA for ARHGDIB Gene

miRTarBase miRNAs that target ARHGDIB

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGDIB Gene

Localization for ARHGDIB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGDIB Gene

Cytoplasm, cytosol.

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 ARHGDIB gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARHGDIB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,TAS 16130169
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
GO:0016020 membrane IBA 21873635
GO:0031410 cytoplasmic vesicle TAS 9113980
genes like me logo Genes that share ontologies with ARHGDIB: view

Pathways & Interactions for ARHGDIB Gene

genes like me logo Genes that share pathways with ARHGDIB: view

Pathways by source for ARHGDIB Gene

3 GeneGo (Thomson Reuters) pathways for ARHGDIB Gene
  • G-protein signaling_Regulation of CDC42 activity
  • G-protein signaling_Regulation of RAC1 activity
  • G-protein signaling_RhoA regulation pathway
10 Qiagen pathways for ARHGDIB Gene
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Apoptosis through Death Receptors
  • Caspase Cascade
  • Crosstalk Between CARM1 and ESRs

SIGNOR curated interactions for ARHGDIB Gene

Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for ARHGDIB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007162 negative regulation of cell adhesion TAS 9113980
GO:0007266 Rho protein signal transduction IBA 21873635
GO:0007275 multicellular organism development TAS 8434008
GO:0035023 regulation of Rho protein signal transduction IMP 8262133
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ARHGDIB: view

Drugs & Compounds for ARHGDIB Gene

(3) Drugs for ARHGDIB Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for ARHGDIB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARHGDIB: view

Transcripts for ARHGDIB Gene

mRNA/cDNA for ARHGDIB Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d · 11e
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - -
SP7: -
SP8: -
SP9: - - - - - -
SP10: - - - - -

Relevant External Links for ARHGDIB Gene

GeneLoc Exon Structure for
ARHGDIB

Expression for ARHGDIB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x27.8).

Protein differential expression in normal tissues from HIPED for ARHGDIB Gene

This gene is overexpressed in Lavage (22.9).

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



Protein tissue co-expression partners for ARHGDIB Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for ARHGDIB Gene:

Hs.504877

mRNA Expression by UniProt/SwissProt for ARHGDIB Gene:

P52566-GDIR2_HUMAN
Tissue specificity: Detected in bone marrow, thymus and spleen.

Evidence on tissue expression from TISSUES for ARHGDIB Gene

  • Blood(4.9)
  • Nervous system(4.7)
  • Liver(4.5)
  • Pancreas(3.9)
  • Lung(3.8)
  • Spleen(3.4)
  • Lymph node(3.3)
  • Intestine(3.2)
  • Bone marrow(3.1)
  • Heart(3)
  • Kidney(2.8)
  • Muscle(2.5)
  • Stomach(2.5)
  • Skin(2.5)
  • Thyroid gland(2.1)
  • Gall bladder(2)
  • Eye(2)
genes like me logo Genes that share expression patterns with ARHGDIB: view

Primer products for research

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

Orthologs for ARHGDIB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGDIB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGDIB 29 30
  • 99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGDIB 29 30
  • 90.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARHGDIB 29 30
  • 89.17 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARHGDIB 30
  • 84 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgdib 29
  • 83.67 (n)
Mouse
(Mus musculus)
Mammalia Arhgdib 29 16 30
  • 83.5 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARHGDIB 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARHGDIB 29 30
  • 81.5 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGDIB 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arhgdib 29
  • 73.67 (n)
Str.5653 29
African clawed frog
(Xenopus laevis)
Amphibia arhgdib-prov 29
Zebrafish
(Danio rerio)
Actinopterygii arhgdig 29
  • 71.91 (n)
zgc65966 29
Fruit Fly
(Drosophila melanogaster)
Insecta RhoGDI 30 31
  • 45 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rhi-1 30 31
  • 40 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RDI1 30
  • 37 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 44 (a)
OneToMany
Species where no ortholog for ARHGDIB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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)
  • Wheat (Triticum aestivum)

Evolution for ARHGDIB Gene

ENSEMBL:
Gene Tree for ARHGDIB (if available)
TreeFam:
Gene Tree for ARHGDIB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGDIB: view image
Alliance of Genome Resources:
Additional Orthologs for ARHGDIB

Paralogs for ARHGDIB Gene

Paralogs for ARHGDIB Gene

(2) SIMAP similar genes for ARHGDIB Gene using alignment to 5 proteins:

  • GDIR2_HUMAN
  • F5H2R5_HUMAN
  • F5H3P3_HUMAN
  • F5H6Q0_HUMAN
  • H0YGX7_HUMAN
genes like me logo Genes that share paralogs with ARHGDIB: view

Variants for ARHGDIB Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARHGDIB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1394n100 CNV gain 25217958
esv3580158 CNV loss 25503493
nsv469120 CNV gain 19166990
nsv557613 CNV gain 21841781
nsv951333 CNV duplication 24416366

Variation tolerance for ARHGDIB Gene

Residual Variation Intolerance Score: 22.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGDIB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGDIB
Leiden Open Variation Database (LOVD)
ARHGDIB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGDIB Gene

Disorders for ARHGDIB Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARHGDIB Gene - From: COP and GCD

Disorder Aliases PubMed IDs
severe congenital neutropenia
  • congenital agranulocytosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGDIB

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

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

Publications for ARHGDIB Gene

  1. cDNA cloning of a human mRNA preferentially expressed in hematopoietic cells and with homology to a GDP-dissociation inhibitor for the rho GTP-binding proteins. (PMID: 8434008) Lelias JM … Lim B (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 22
  2. Ly-GDI, a GDP-dissociation inhibitor of the RhoA GTP-binding protein, is expressed preferentially in lymphocytes. (PMID: 8356058) Scherle P … Staudt LM (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 22
  3. Identification of a novel protein with GDP dissociation inhibitor activity for the ras-like proteins CDC42Hs and rac I. (PMID: 7512369) Adra CN … Lim B (Genes, chromosomes & cancer 1993) 3 4 22
  4. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 40
  5. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M … Lan Q (Environmental and molecular mutagenesis 2009) 3 40

Products for ARHGDIB Gene

Sources for ARHGDIB Gene