The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by R... See more...

Aliases for RHOBTB2 Gene

Aliases for RHOBTB2 Gene

  • Rho Related BTB Domain Containing 2 2 3 5
  • DBC2 2 3 4
  • Rho-Related BTB Domain-Containing Protein 2 3 4
  • Deleted In Breast Cancer 2 Gene Protein 3 4
  • KIAA0717 2 4
  • P83 3 4
  • Rho-Related BTB Domain Containing 2 2
  • RHOBTB2 5
  • EIEE64 3

External Ids for RHOBTB2 Gene

Previous GeneCards Identifiers for RHOBTB2 Gene

  • GC08P022626
  • GC08P023198
  • GC08P022866
  • GC08P022880
  • GC08P022900
  • GC08P021389
  • GC08P022844

Summaries for RHOBTB2 Gene

Entrez Gene Summary for RHOBTB2 Gene

  • The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for RHOBTB2 Gene

RHOBTB2 (Rho Related BTB Domain Containing 2) is a Protein Coding gene. Diseases associated with RHOBTB2 include Epileptic Encephalopathy, Early Infantile, 64 and Rett Syndrome. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is RHOBTB1.

Gene Wiki entry for RHOBTB2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHOBTB2 Gene

Genomics for RHOBTB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RHOBTB2 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 RHOBTB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHOBTB2

Top Transcription factor binding sites by QIAGEN in the RHOBTB2 gene promoter:
  • CUTL1
  • Egr-3
  • NF-1
  • NF-1/L
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • RORalpha2
  • YY1

Genomic Locations for RHOBTB2 Gene

Genomic Locations for RHOBTB2 Gene
chr8:22,987,251-23,020,199
(GRCh38/hg38)
Size:
32,949 bases
Orientation:
Plus strand
chr8:22,844,930-22,877,712
(GRCh37/hg19)
Size:
32,783 bases
Orientation:
Plus strand

Genomic View for RHOBTB2 Gene

Genes around RHOBTB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHOBTB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHOBTB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHOBTB2 Gene

Proteins for RHOBTB2 Gene

  • Protein details for RHOBTB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYZ6-RHBT2_HUMAN
    Recommended name:
    Rho-related BTB domain-containing protein 2
    Protein Accession:
    Q9BYZ6
    Secondary Accessions:
    • A8K9Z8
    • D3DSR8
    • E9PBU2
    • E9PEI7
    • O94825
    • Q8N4A8
    • Q9BZK6

    Protein attributes for RHOBTB2 Gene

    Size:
    727 amino acids
    Molecular mass:
    82626 Da
    Quaternary structure:
    • Interacts with HSP90AA1 and HSP90AB1 (PubMed:26517842). Interacts with CUL3 (PubMed:29276004).
    SequenceCaution:
    • Sequence=AAH34917.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA34437.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for RHOBTB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHOBTB2 Gene

Post-translational modifications for RHOBTB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RHOBTB2 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for RHOBTB2

No data available for DME Specific Peptides for RHOBTB2 Gene

Domains & Families for RHOBTB2 Gene

Gene Families for RHOBTB2 Gene

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

Protein Domains for RHOBTB2 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • BTB/POZ domain
  • Ras small GTPase, Ras type
  • Ras small GTPase, Rho type
ProtoNet:

Suggested Antigen Peptide Sequences for RHOBTB2 Gene

GenScript: Design optimal peptide antigens:
  • p83 (RHBT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYZ6

UniProtKB/Swiss-Prot:

RHBT2_HUMAN :
  • Belongs to the small GTPase superfamily. Rho family.
Family:
  • Belongs to the small GTPase superfamily. Rho family.
genes like me logo Genes that share domains with RHOBTB2: view

Function for RHOBTB2 Gene

Phenotypes From GWAS Catalog for RHOBTB2 Gene

Gene Ontology (GO) - Molecular Function for RHOBTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI 26517842
GO:0005525 GTP binding IBA 21873635
GO:0019901 protein kinase binding IBA 21873635
genes like me logo Genes that share ontologies with RHOBTB2: view
genes like me logo Genes that share phenotypes with RHOBTB2: view

Human Phenotype Ontology for RHOBTB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for RHOBTB2 Gene

miRTarBase miRNAs that target RHOBTB2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHOBTB2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RHOBTB2 Gene

Localization for RHOBTB2 Gene

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 RHOBTB2 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 3
nucleus 3
extracellular 2
endosome 2
lysosome 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for RHOBTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0005938 cell cortex IBA 21873635
genes like me logo Genes that share ontologies with RHOBTB2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RHOBTB2 Gene

Pathways & Interactions for RHOBTB2 Gene

genes like me logo Genes that share pathways with RHOBTB2: view

Pathways by source for RHOBTB2 Gene

3 Reactome pathways for RHOBTB2 Gene
1 KEGG pathway for RHOBTB2 Gene

Gene Ontology (GO) - Biological Process for RHOBTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IBA 21873635
GO:0007163 establishment or maintenance of cell polarity IBA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007266 Rho protein signal transduction IBA --
GO:0008360 regulation of cell shape IBA 21873635
genes like me logo Genes that share ontologies with RHOBTB2: view

No data available for SIGNOR curated interactions for RHOBTB2 Gene

Drugs & Compounds for RHOBTB2 Gene

No Compound Related Data Available

Transcripts for RHOBTB2 Gene

mRNA/cDNA for RHOBTB2 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 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 RHOBTB2

Alternative Splicing Database (ASD) splice patterns (SP) for RHOBTB2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18
SP1: - - - - - -
SP2: - - - -
SP3: - -
SP4:
SP5:
SP6: - - - - -
SP7: -
SP8: -
SP9:

Relevant External Links for RHOBTB2 Gene

GeneLoc Exon Structure for
RHOBTB2

Expression for RHOBTB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RHOBTB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RHOBTB2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RHOBTB2 Gene



Protein tissue co-expression partners for RHOBTB2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RHOBTB2

SOURCE GeneReport for Unigene cluster for RHOBTB2 Gene:

Hs.372688

mRNA Expression by UniProt/SwissProt for RHOBTB2 Gene:

Q9BYZ6-RHBT2_HUMAN
Tissue specificity: Ubiquitous, with highest levels in neural tissues. Expression is also detected in fetal lung, heart, and brain.

Evidence on tissue expression from TISSUES for RHOBTB2 Gene

  • Nervous system(4.9)
  • Eye(4.4)
  • Heart(2.5)
  • Muscle(2.5)
  • Blood(2.5)
  • Lung(2.4)
  • Kidney(2.4)
  • Intestine(2.3)
  • Lymph node(2.3)
  • Spleen(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with RHOBTB2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHOBTB2 Gene

Orthologs for RHOBTB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RHOBTB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RHOBTB2 30 31
  • 99.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 31
  • 97 (a)
OneToMany
RHOBTB2 30 31
  • 92.1 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia RHOBTB2 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RHOBTB2 30 31
  • 92.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rhobtb2 30
  • 90.64 (n)
Mouse
(Mus musculus)
Mammalia Rhobtb2 30 17 31
  • 90.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RHOBTB2 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RHOBTB2 30 31
  • 81.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RHOBTB2 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rhobtb2 30
  • 71.91 (n)
Zebrafish
(Danio rerio)
Actinopterygii rhobtb2b 30 31
  • 72.31 (n)
OneToOne
Dr.16408 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3851 30
Fruit Fly
(Drosophila melanogaster)
Insecta RhoBTB 30 31
  • 55.03 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006474 30
  • 53.03 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
ManyToMany
CSA.4181 31
  • 38 (a)
ManyToMany
Species where no ortholog for RHOBTB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for RHOBTB2 Gene

ENSEMBL:
Gene Tree for RHOBTB2 (if available)
TreeFam:
Gene Tree for RHOBTB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RHOBTB2: view image

Paralogs for RHOBTB2 Gene

(18) SIMAP similar genes for RHOBTB2 Gene using alignment to 4 proteins:

  • RHBT2_HUMAN
  • E5RI44_HUMAN
  • E9PBU2_HUMAN
  • E9PEI7_HUMAN
genes like me logo Genes that share paralogs with RHOBTB2: view

Variants for RHOBTB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHOBTB2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
715726 Benign: not provided 23,007,013(+) C/T SYNONYMOUS_VARIANT
716960 Benign: not provided 23,007,244(+) C/T SYNONYMOUS_VARIANT
738937 Likely Benign: not provided 23,015,649(+) G/A SYNONYMOUS_VARIANT
740838 Likely Benign: not provided 23,005,413(+) C/G SYNONYMOUS_VARIANT
755897 Likely Benign: not provided 23,007,568(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RHOBTB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RHOBTB2 Gene

Variant ID Type Subtype PubMed ID
dgv7138n100 CNV gain 25217958
esv2663907 CNV deletion 23128226
esv2759604 CNV loss 17122850
esv3616620 CNV loss 21293372
nsv1017570 CNV gain 25217958
nsv1025672 CNV gain 25217958
nsv1027718 CNV gain 25217958
nsv1119171 CNV deletion 24896259
nsv522436 CNV loss 19592680
nsv524231 CNV loss 19592680
nsv526377 CNV loss 19592680
nsv8323 CNV gain 18304495

Variation tolerance for RHOBTB2 Gene

Residual Variation Intolerance Score: 9.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.10; 38.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHOBTB2 Gene

Human Gene Mutation Database (HGMD)
RHOBTB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHOBTB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHOBTB2 Gene

Disorders for RHOBTB2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for RHOBTB2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RHBT2_HUMAN
  • Epileptic encephalopathy, early infantile, 64 (EIEE64) [MIM:618004]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE64 is an autosomal dominant form characterized by onset of seizures usually in the first year of life. Seizure types are variable and include focal dyscognitive and generalized tonic-clonic seizures, as well as febrile seizures in the mildest affected individuals. Seizures tend to respond to medical treatment. {ECO:0000269 PubMed:29276004, ECO:0000269 PubMed:29768694}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RHOBTB2

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 RHOBTB2: view

No data available for Genatlas for RHOBTB2 Gene

Publications for RHOBTB2 Gene

  1. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. (PMID: 29276004) Straub J … Zweier C (American journal of human genetics 2018) 3 4
  2. Atypical Rho GTPases of the RhoBTB Subfamily: Roles in Vesicle Trafficking and Tumorigenesis. (PMID: 27314390) Ji W … Rivero F (Cells 2016) 2 3
  3. Client Proteins and Small Molecule Inhibitors Display Distinct Binding Preferences for Constitutive and Stress-Induced HSP90 Isoforms and Their Conformationally Restricted Mutants. (PMID: 26517842) Prince TL … Neckers L (PloS one 2015) 3 4
  4. A novel tumor suppressor gene RhoBTB2 (DBC2): frequent loss of expression in sporadic breast cancer. (PMID: 19937980) Mao H … Zhang L (Molecular carcinogenesis 2010) 3 23
  5. Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population. (PMID: 19714462) Loizidou MA … Kyriacou K (Breast cancer research and treatment 2010) 3 41

Products for RHOBTB2 Gene

Sources for RHOBTB2 Gene