This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere ... See more...

Aliases for RHOQ Gene

Aliases for RHOQ Gene

  • Ras Homolog Family Member Q 2 3 5
  • TC10 2 3 4
  • Rho-Related GTP-Binding Protein RhoQ 3 4
  • Ras Homolog Gene Family, Member Q 2 3
  • Ras-Like Protein Family Member 7A 3 4
  • RAS-Like, Family 7, Member A 2 3
  • Ras-Like Protein TC10 3 4
  • RASL7A 3 4
  • ARHQ 3 4
  • Epididymis Secretory Protein Li 42 3
  • HEL-S-42 3
  • TC10A 3
  • RHOQ 5

External Ids for RHOQ Gene

Previous HGNC Symbols for RHOQ Gene

  • RASL7A
  • ARHQ

Previous GeneCards Identifiers for RHOQ Gene

  • GC02P046745
  • GC02P046682
  • GC02P046623
  • GC02P046507
  • GC02P046768

Summaries for RHOQ Gene

Entrez Gene Summary for RHOQ Gene

  • This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011]

GeneCards Summary for RHOQ Gene

RHOQ (Ras Homolog Family Member Q) is a Protein Coding gene. Diseases associated with RHOQ include Progressive Familial Heart Block, Type Ii and Ritscher-Schinzel Syndrome 2. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTP binding and profilin binding. An important paralog of this gene is RHOJ.

UniProtKB/Swiss-Prot Summary for RHOQ Gene

  • Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia.

Gene Wiki entry for RHOQ Gene

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

Genomics for RHOQ Gene

GeneHancer (GH) Regulatory Elements Pubs

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

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

Top Transcription factor binding sites by QIAGEN in the RHOQ gene promoter:
  • AP-2gamma
  • c-Myc
  • C/EBPalpha
  • HTF
  • Ik-2
  • Ik-3
  • LyF-1
  • Max
  • Pbx1a
  • STAT5A

Genomic Locations for RHOQ Gene

Latest Assembly
chr2:46,541,806-46,584,688
(GRCh38/hg38)
Size:
42,883 bases
Orientation:
Plus strand

Previous Assembly
chr2:46,769,629-46,811,827
(GRCh37/hg19 by Entrez Gene)
Size:
42,199 bases
Orientation:
Plus strand

chr2:46,768,945-46,810,260
(GRCh37/hg19 by Ensembl)
Size:
41,316 bases
Orientation:
Plus strand

Genomic View for RHOQ Gene

Genes around RHOQ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RHOQ Gene

Proteins for RHOQ Gene

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

    Protein Symbol:
    P17081-RHOQ_HUMAN
    Recommended name:
    Rho-related GTP-binding protein RhoQ
    Protein Accession:
    P17081
    Secondary Accessions:
    • D6W5A6
    • Q0VGN1
    • Q52LS8
    • Q53SJ1
    • Q6NS39
    • Q6P146
    • Q7Z480

    Protein attributes for RHOQ Gene

    Size:
    205 amino acids
    Molecular mass:
    22659 Da
    Quaternary structure:
    • Interacts with CDC42EP4 in a GTP-dependent manner. Interacts with ARHGAP33/TCGAP (By similarity). Interacts with CDC42EP1, CDC42EP2, CDC42EP3, PARD6A, PARD6G (and probably PARD6B) in a GTP-dependent manner. Part of a quaternary complex containing PARD3, some PARD6 protein (PARD6A, PARD6B or PARD6G) and some atypical PKC protein (PRKCI or PRKCZ). Interacts with EXO70 in a GTP-dependent manner. Interacts with GOPC.
    SequenceCaution:
    • Sequence=AAA36547.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAM21123.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RHOQ Gene

neXtProt entry for RHOQ Gene

Post-translational modifications for RHOQ Gene

  • May be post-translationally modified by both palmitoylation and polyisoprenylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RHOQ Gene

Domains & Families for RHOQ Gene

Gene Families for RHOQ Gene

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

Protein Domains for RHOQ Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • Ras small GTPase, Rho type

Suggested Antigen Peptide Sequences for RHOQ Gene

GenScript: Design optimal peptide antigens:
  • Ras homolog gene family, member Q, isoform CRA_b (D6W5A7_HUMAN)
  • Ras-like protein family member 7A (RHOQ_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17081

UniProtKB/Swiss-Prot:

RHOQ_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 RHOQ: view

Function for RHOQ Gene

Molecular function for RHOQ Gene

UniProtKB/Swiss-Prot Function:
Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase.

Phenotypes From GWAS Catalog for RHOQ Gene

Gene Ontology (GO) - Molecular Function for RHOQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IDA 10445846
GO:0005515 protein binding IPI 32296183
GO:0005522 profilin binding IPI 10445846
GO:0005525 GTP binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with RHOQ: view
genes like me logo Genes that share phenotypes with RHOQ: view

Inhibitory RNAs for research

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

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

Localization for RHOQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHOQ Gene

Cytoplasm. Cell membrane. Lipid-anchor.

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

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for RHOQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005884 actin filament IDA 10445846
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RHOQ: view

Pathways & Interactions for RHOQ Gene

PathCards logo

SuperPathways for RHOQ Gene

SuperPathway Contained pathways
1 Delta508-CFTR traffic / ER-to-Golgi in CF
.33
.33
.33
2 Actin Nucleation by ARP-WASP Complex
.66
.66
3 Vesicle-mediated transport
4 Signaling by Rho GTPases
5 Angiopoietin Like Protein 8 Regulatory Pathway
genes like me logo Genes that share pathways with RHOQ: view

Pathways by source for RHOQ Gene

3 GeneGo (Thomson Reuters) pathways for RHOQ Gene
  • Delta508-CFTR traffic / ER-to-Golgi in CF
  • Normal wtCFTR traffic / ER-to-Golgi
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
1 R&D Systems pathway for RHOQ Gene
6 Qiagen pathways for RHOQ Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Germ Cell-Sertoli Cell Junction Dynamics
  • ILK Signaling

SIGNOR curated interactions for RHOQ Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for RHOQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IBA 21873635
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0008286 insulin receptor signaling pathway IMP 11309621
GO:0008360 regulation of cell shape IEA --
GO:0016477 cell migration IBA 21873635
genes like me logo Genes that share ontologies with RHOQ: view

Drugs & Compounds for RHOQ Gene

(4) Drugs for RHOQ Gene - From: HMDB and Novoseek

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

(4) Additional Compounds for RHOQ Gene - From: Novoseek

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

Transcripts for RHOQ Gene

mRNA/cDNA for RHOQ Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 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 RHOQ

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5
SP1:
SP2: -
SP3:

Relevant External Links for RHOQ Gene

GeneLoc Exon Structure for
RHOQ

Expression for RHOQ Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Left Ventricle (x4.9).

Protein differential expression in normal tissues from HIPED for RHOQ Gene

This gene is overexpressed in Prostate (31.3), Brain (21.6), and Cardia (14.2).

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



Protein tissue co-expression partners for RHOQ Gene

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

SOURCE GeneReport for Unigene cluster for RHOQ Gene:

Hs.709193

Evidence on tissue expression from TISSUES for RHOQ Gene

  • Nervous system(4.6)
  • Lung(4.5)
  • Skin(4.5)
  • Heart(3.3)
  • Muscle(3.1)
  • Kidney(2.8)
  • Spleen(2.7)
  • Intestine(2.7)
  • Blood(2.6)
  • Lymph node(2.5)
  • Adrenal gland(2.3)
  • Liver(2.3)
  • Thyroid gland(2.2)
  • Bone marrow(2.1)
  • Pancreas(2.1)
  • Eye(2)
genes like me logo Genes that share expression patterns with RHOQ: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHOQ Gene

Orthologs for RHOQ Gene

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

Orthologs for RHOQ Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia RHOQ 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia RHOQ 29
  • 99.51 (n)
Cow
(Bos Taurus)
Mammalia RHOQ 29 30
  • 96.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RHOQ 29 30
  • 94.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rhoq 29 16 30
  • 94.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rhoq 29
  • 93.98 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RHOQ 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CHTC10 30
  • 97 (a)
OneToOne
RHOQ 29
  • 87.64 (n)
Lizard
(Anolis carolinensis)
Reptilia RHOQ 30
  • 95 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii rhoq 29 30
  • 74.96 (n)
OneToOne
wufi15a09 29
Fruit Fly
(Drosophila melanogaster)
Insecta RhoL 30
  • 41 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC42 30
  • 64 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10939 30
  • 55 (a)
ManyToMany
CSA.6319 30
  • 52 (a)
ManyToMany
Species where no ortholog for RHOQ 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RHOQ Gene

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

Paralogs for RHOQ Gene

(37) SIMAP similar genes for RHOQ Gene using alignment to 6 proteins:

  • RHOQ_HUMAN
  • D6W5A7_HUMAN
  • E5RFZ3_HUMAN
  • F8WET9_HUMAN
  • H0YB40_HUMAN
  • H0YB93_HUMAN

Pseudogenes.org Pseudogenes for RHOQ Gene

genes like me logo Genes that share paralogs with RHOQ: view

Variants for RHOQ Gene

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

Variant ID Type Subtype PubMed ID
dgv149e55 CNV loss 17911159
esv23599 CNV loss 19812545
esv2720016 CNV deletion 23290073
esv2759046 CNV loss 17122850
esv3556099 CNV deletion 23714750
esv3590613 CNV gain 21293372
nsv1009735 CNV loss 25217958
nsv1071990 CNV deletion 25765185
nsv1112760 CNV deletion 24896259
nsv961403 CNV duplication 23825009
nsv9713 CNV gain 18304495

Variation tolerance for RHOQ Gene

Residual Variation Intolerance Score: 40% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHOQ Gene

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

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 RHOQ Gene

Disorders for RHOQ Gene

MalaCards: The human disease database

(4) MalaCards diseases for RHOQ Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search RHOQ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RHOQ

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 RHOQ: view

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

Publications for RHOQ Gene

  1. PIST: a novel PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10. (PMID: 11162552) Neudauer CL … Macara IG (Biochemical and biophysical research communications 2001) 3 4 22
  2. Characterization of four novel ras-like genes expressed in a human teratocarcinoma cell line. (PMID: 2108320) Drivas GT … D'Eustachio P (Molecular and cellular biology 1990) 2 3 4
  3. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 40
  4. TC10 controls human myofibril organization and is activated by the sarcomeric RhoGEF obscurin. (PMID: 19258391) Coisy-Quivy M … Philips A (Journal of cell science 2009) 3 22
  5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 40

Products for RHOQ Gene

Sources for RHOQ Gene