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RHOH (Ras homolog gene family, member H)

Written1998-02Sylvie Galiègue-Zouitina
U.124 INSERM, I.R.C.L., Place de Verdun, 59045 LILLE Cedex, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesARHH
ras homolog gene family
Alias_symbol (synonym)RhoH
TTF
Other aliasTTF (translocation three four)
HGNC (Hugo) RHOH
LocusID (NCBI) 399
Atlas_Id 93
Location 4p14  [Link to chromosome band 4p14]
Location_base_pair Starts at 40196907 and ends at 40244764 bp from pter ( according to hg19-Feb_2009)  [Mapping RHOH.png]
 
  RHPH (4p13) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
BCL6 (3q27.3) / RHOH (4p14)IGH (14q32.33) / RHOH (4p14)IGHG1 (14q32.33) / RHOH (4p14)
RHOH (4p14) / BCL6 (3q27.3)RHOH (4p14) / N4BP2 (4p14)RHOH (4p14) / RHOH (4p14)

DNA/RNA

Description spans on a 35 kb genomic fragment; two exons separated by a large intron; small GTPase encoding gene
Transcription 2.2 kb mRNA; coding sequence: 575 bp, located in the second exon

Protein

Description 191 amino acids; 21 kDa; contains a GTP binding motif, a GTPase activity site, and a membrane localisation signal (CAAX box) in the very C-term
Expression restricted to the hemopoietic tissues
Localisation plasmic membrane
Function small GTPase of the Rho subfamily; involved in signal transduction and cytoskeletal reorganization
Homology with all GTPases of the Ras superfamily

Implicated in

Note
  
Entity t(3;4)(q27;p13)/NHL --> BCL6 - RHOH
Disease follicular NHL
Cytogenetics observed as a secondary anomaly
Hybrid/Mutated Gene 5' RHOH - 3' BCL6 and 5' BCL6 - 3' RHOH, leading to two fusion transcripts
Abnormal Protein no fusion protein, but promoter exchange between both partner genes
  
  
Entity t(4;14)(p13;q32)/multiple myeloma --> RHOH - ??
Disease multiple myeloma
Prognosis still unknown: only 1 available case
Cytogenetics observed as a unique anomaly
Hybrid/Mutated Gene not yet known (under study)
  

Breakpoints

 

Bibliography

TTF, a gene encoding a novel small G protein, fuses to the lymphoma-associated LAZ3 gene by t(3;4) chromosomal translocation.
Dallery E, Galiègue-Zouitina S, Collyn-d'Hooghe M, Quief S, Denis C, Hildebrand MP, Lantoine D, Deweindt C, Tilly H, Bastard C
Oncogene. 1995 ; 10 (11) : 2171-2178.
PMID 7784061
 
Genomic structure and assignment of the RhoH/TTF small GTPase gene (ARHH) to 4p13 by in situ hybridization.
Dallery-Prudhomme E, Roumier C, Denis C, Preudhomme C, Kerckaert JP, Galiegue-Zouitina S
Genomics. 1997 ; 43 (1) : 89-94.
PMID 9226377
 

Citation

This paper should be referenced as such :
Sylvie Galiègue-Zouitina
RHOH (ras homolog gene family, member H)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(1):15-16.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RHOHID93.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 7 ]
  3q27 rearrangements (BCL6) in non Hodgkin lymphoma::t(3;Var)(q27;Var) in non Hodgkin lymphoma
Classical Hodgkin lymphoma
Hodgkin lymphoma
i(4p) in myeloid malignancies
Nodular lymphocyte-predominant Hodgkin lymphoma
t(3;14)(q27;q32) IGH/BCL6::t(2;3)(p12;q27) IGK/BCL6::t(3;22)(q27;q11) IGL/BCL6
t(3;4)(q27;p13) RHOH/BCL6


External links

Nomenclature
HGNC (Hugo)RHOH   686
LRG (Locus Reference Genomic)LRG_736
Cards
AtlasRHOHID93
Entrez_Gene (NCBI)RHOH  399  ras homolog family member H
AliasesARHH; TTF
GeneCards (Weizmann)RHOH
Ensembl hg19 (Hinxton)ENSG00000168421 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168421 [Gene_View]  chr4:40196907-40244764 [Contig_View]  RHOH [Vega]
ICGC DataPortalENSG00000168421
TCGA cBioPortalRHOH
AceView (NCBI)RHOH
Genatlas (Paris)RHOH
WikiGenes399
SOURCE (Princeton)RHOH
Genetics Home Reference (NIH)RHOH
Genomic and cartography
GoldenPath hg38 (UCSC)RHOH  -     chr4:40196907-40244764 +  4p14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RHOH  -     4p14   [Description]    (hg19-Feb_2009)
EnsemblRHOH - 4p14 [CytoView hg19]  RHOH - 4p14 [CytoView hg38]
Mapping of homologs : NCBIRHOH [Mapview hg19]  RHOH [Mapview hg38]
OMIM602037   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001278359 NM_001278360 NM_001278361 NM_001278362 NM_001278363 NM_001278364 NM_001278365 NM_001278366 NM_001278367 NM_001278368 NM_001278369 NM_004310
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RHOH
Cluster EST : UnigeneHs.738915 [ NCBI ]
CGAP (NCI)Hs.738915
Alternative Splicing GalleryENSG00000168421
Gene ExpressionRHOH [ NCBI-GEO ]   RHOH [ EBI - ARRAY_EXPRESS ]   RHOH [ SEEK ]   RHOH [ MEM ]
Gene Expression Viewer (FireBrowse)RHOH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)399
GTEX Portal (Tissue expression)RHOH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15669   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15669  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15669
Splice isoforms : SwissVarQ15669
PhosPhoSitePlusQ15669
Domaine pattern : Prosite (Expaxy)RHO (PS51420)   
Domains : Interpro (EBI)P-loop_NTPase    Small_GTP-bd_dom    Small_GTPase   
Domain families : Pfam (Sanger)Ras (PF00071)   
Domain families : Pfam (NCBI)pfam00071   
Conserved Domain (NCBI)RHOH
DMDM Disease mutations399
Blocks (Seattle)RHOH
SuperfamilyQ15669
Human Protein AtlasENSG00000168421
Peptide AtlasQ15669
HPRD03616
IPIIPI00018882   IPI00966442   IPI00964979   IPI00966768   IPI00966168   
Protein Interaction databases
DIP (DOE-UCLA)Q15669
IntAct (EBI)Q15669
FunCoupENSG00000168421
BioGRIDRHOH
STRING (EMBL)RHOH
ZODIACRHOH
Ontologies - Pathways
QuickGOQ15669
Ontology : AmiGOimmunological synapse  GTPase activity  GTPase inhibitor activity  protein binding  GTP binding  cytoplasm  cytosol  plasma membrane  regulation of transcription, DNA-templated  small GTPase mediated signal transduction  Rho GTPase binding  kinase inhibitor activity  T cell differentiation  negative regulation of GTPase activity  negative regulation of phosphorylation  negative regulation of I-kappaB kinase/NF-kappaB signaling  mast cell activation  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIimmunological synapse  GTPase activity  GTPase inhibitor activity  protein binding  GTP binding  cytoplasm  cytosol  plasma membrane  regulation of transcription, DNA-templated  small GTPase mediated signal transduction  Rho GTPase binding  kinase inhibitor activity  T cell differentiation  negative regulation of GTPase activity  negative regulation of phosphorylation  negative regulation of I-kappaB kinase/NF-kappaB signaling  mast cell activation  regulation of small GTPase mediated signal transduction  
Pathways : KEGGLeukocyte transendothelial migration   
REACTOMEQ15669 [protein]
REACTOME PathwaysR-HSA-194840 [pathway]   
NDEx NetworkRHOH
Atlas of Cancer Signalling NetworkRHOH
Wikipedia pathwaysRHOH
Orthology - Evolution
OrthoDB399
GeneTree (enSembl)ENSG00000168421
Phylogenetic Trees/Animal Genes : TreeFamRHOH
HOVERGENQ15669
HOGENOMQ15669
Homologs : HomoloGeneRHOH
Homology/Alignments : Family Browser (UCSC)RHOH
Gene fusions - Rearrangements
Fusion : MitelmanIGH/RHOH [14q32.33/4p14]  [t(4;14)(p14;q32)]  
Fusion : MitelmanRHOH/BCL6 [4p14/3q27.3]  [t(3;4)(q27;p14)]  
Fusion: TCGARHOH 4p14 N4BP2 4p14 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHOH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHOH
dbVarRHOH
ClinVarRHOH
1000_GenomesRHOH 
Exome Variant ServerRHOH
ExAC (Exome Aggregation Consortium)RHOH (select the gene name)
Genetic variants : HAPMAP399
Genomic Variants (DGV)RHOH [DGVbeta]
DECIPHERRHOH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRHOH 
Mutations
ICGC Data PortalRHOH 
TCGA Data PortalRHOH 
Broad Tumor PortalRHOH
OASIS PortalRHOH [ Somatic mutations - Copy number]
Cancer Gene: CensusRHOH 
Somatic Mutations in Cancer : COSMICRHOH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRHOH
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch RHOH
DgiDB (Drug Gene Interaction Database)RHOH
DoCM (Curated mutations)RHOH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RHOH (select a term)
intoGenRHOH
NCG5 (London)RHOH
Cancer3DRHOH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602037   
Orphanet21761   
MedgenRHOH
Genetic Testing Registry RHOH
NextProtQ15669 [Medical]
TSGene399
GENETestsRHOH
Target ValidationRHOH
Huge Navigator RHOH [HugePedia]
snp3D : Map Gene to Disease399
BioCentury BCIQRHOH
ClinGenRHOH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD399
Chemical/Pharm GKB GenePA24979
Clinical trialRHOH
Miscellaneous
canSAR (ICR)RHOH (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRHOH
EVEXRHOH
GoPubMedRHOH
iHOPRHOH
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 30 11:17:06 CEST 2017

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