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RIPOR2 (RHO family interacting cell polarization regulator 2)

Identity

Other aliasC6orf32
DFNB104
DIFF40
DIFF48
FAM65B
MYONAP
PL48
HGNC (Hugo) RIPOR2
LocusID (NCBI) 9750
Atlas_Id 56806
Location 6p22.3  [Link to chromosome band 6p22]
Location_base_pair Starts at 24839366 and ends at 24877365 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
C6orf62 6p22.3 / FAM65B 6p22.3MRS2 6p22.3 / FAM65B 6p22.3WASF2 1p36.11 / FAM65B 6p22.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RIPOR2   13872
Cards
Entrez_Gene (NCBI)RIPOR2  9750  RHO family interacting cell polarization regulator 2
AliasesC6orf32; DFNB104; DIFF40; DIFF48; 
FAM65B; MYONAP; PL48
GeneCards (Weizmann)RIPOR2
Ensembl hg19 (Hinxton)ENSG00000111913 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111913 [Gene_View]  ENSG00000111913 [Sequence]  chr6:24839366-24877365 [Contig_View]  RIPOR2 [Vega]
ICGC DataPortalENSG00000111913
TCGA cBioPortalRIPOR2
AceView (NCBI)RIPOR2
Genatlas (Paris)RIPOR2
WikiGenes9750
SOURCE (Princeton)RIPOR2
Genetics Home Reference (NIH)RIPOR2
Genomic and cartography
GoldenPath hg38 (UCSC)RIPOR2  -     chr6:24839366-24877365 -  6p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RIPOR2  -     6p22.3   [Description]    (hg19-Feb_2009)
EnsemblRIPOR2 - 6p22.3 [CytoView hg19]  RIPOR2 - 6p22.3 [CytoView hg38]
Mapping of homologs : NCBIRIPOR2 [Mapview hg19]  RIPOR2 [Mapview hg38]
OMIM611410   616515   
Gene and transcription
Genbank (Entrez)AA760782 AB002384 AK299047 AK300138 AK300950
RefSeq transcript (Entrez)NM_001286445 NM_001286446 NM_001286447 NM_001346031 NM_001346032 NM_014722 NM_015864
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RIPOR2
Cluster EST : UnigeneHs.737906 [ NCBI ]
CGAP (NCI)Hs.737906
Alternative Splicing GalleryENSG00000111913
Gene ExpressionRIPOR2 [ NCBI-GEO ]   RIPOR2 [ EBI - ARRAY_EXPRESS ]   RIPOR2 [ SEEK ]   RIPOR2 [ MEM ]
Gene Expression Viewer (FireBrowse)RIPOR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9750
GTEX Portal (Tissue expression)RIPOR2
Human Protein AtlasENSG00000111913-RIPOR2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4F9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4F9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4F9
Splice isoforms : SwissVarQ9Y4F9
PhosPhoSitePlusQ9Y4F9
Domains : Interpro (EBI)ARM-like    ARM-type_fold    FAM65_N    FAM65B    RIPOR3   
Domain families : Pfam (Sanger)PL48 (PF15903)   
Domain families : Pfam (NCBI)pfam15903   
Conserved Domain (NCBI)RIPOR2
DMDM Disease mutations9750
Blocks (Seattle)RIPOR2
SuperfamilyQ9Y4F9
Human Protein Atlas [tissue]ENSG00000111913-RIPOR2 [tissue]
Peptide AtlasQ9Y4F9
IPIIPI00016800   IPI00938160   IPI00969114   IPI01014259   IPI01013831   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4F9
IntAct (EBI)Q9Y4F9
FunCoupENSG00000111913
BioGRIDRIPOR2
STRING (EMBL)RIPOR2
ZODIACRIPOR2
Ontologies - Pathways
QuickGOQ9Y4F9
Ontology : AmiGOprotein binding  cytoplasm  cytoskeleton  chemotaxis  cell adhesion  negative regulation of cell adhesion  negative regulation of cell adhesion  sensory perception of sound  apical plasma membrane  filopodium  stereocilium  negative regulation of Rho protein signal transduction  negative regulation of Rho protein signal transduction  identical protein binding  establishment of protein localization  positive regulation of myoblast differentiation  skeletal muscle fiber development  protein homooligomerization  positive regulation of filopodium assembly  auditory receptor cell stereocilium organization  stereocilium membrane  cellular response to mechanical stimulus  14-3-3 protein binding  positive regulation of neutrophil chemotaxis  positive regulation of myoblast fusion  negative regulation of establishment of T cell polarity  negative regulation of protein localization to cell leading edge  cellular response to chemokine  regulation of establishment of cell polarity  positive regulation of neutrophil extravasation  negative regulation of T cell migration  negative regulation of Rho guanyl-nucleotide exchange factor activity  negative regulation of Rho guanyl-nucleotide exchange factor activity  
Ontology : EGO-EBIprotein binding  cytoplasm  cytoskeleton  chemotaxis  cell adhesion  negative regulation of cell adhesion  negative regulation of cell adhesion  sensory perception of sound  apical plasma membrane  filopodium  stereocilium  negative regulation of Rho protein signal transduction  negative regulation of Rho protein signal transduction  identical protein binding  establishment of protein localization  positive regulation of myoblast differentiation  skeletal muscle fiber development  protein homooligomerization  positive regulation of filopodium assembly  auditory receptor cell stereocilium organization  stereocilium membrane  cellular response to mechanical stimulus  14-3-3 protein binding  positive regulation of neutrophil chemotaxis  positive regulation of myoblast fusion  negative regulation of establishment of T cell polarity  negative regulation of protein localization to cell leading edge  cellular response to chemokine  regulation of establishment of cell polarity  positive regulation of neutrophil extravasation  negative regulation of T cell migration  negative regulation of Rho guanyl-nucleotide exchange factor activity  negative regulation of Rho guanyl-nucleotide exchange factor activity  
NDEx NetworkRIPOR2
Atlas of Cancer Signalling NetworkRIPOR2
Wikipedia pathwaysRIPOR2
Orthology - Evolution
OrthoDB9750
GeneTree (enSembl)ENSG00000111913
Phylogenetic Trees/Animal Genes : TreeFamRIPOR2
HOVERGENQ9Y4F9
HOGENOMQ9Y4F9
Homologs : HomoloGeneRIPOR2
Homology/Alignments : Family Browser (UCSC)RIPOR2
Gene fusions - Rearrangements
Fusion : MitelmanC6orf62/FAM65B [6p22.3/6p22.3]  [t(6;6)(p22;p22)]  
Fusion : MitelmanMRS2/FAM65B [6p22.3/6p22.3]  [t(6;6)(p22;p22)]  
Fusion : MitelmanWASF2/FAM65B [1p36.11/6p22.3]  [t(1;6)(p36;p22)]  
Fusion PortalC6orf62 6p22.3 FAM65B 6p22.3 LUSC
Fusion PortalMRS2 6p22.3 FAM65B 6p22.3 BRCA
Fusion PortalWASF2 1p36.11 FAM65B 6p22.3 LUSC
Fusion : QuiverRIPOR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRIPOR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RIPOR2
dbVarRIPOR2
ClinVarRIPOR2
1000_GenomesRIPOR2 
Exome Variant ServerRIPOR2
ExAC (Exome Aggregation Consortium)ENSG00000111913
GNOMAD BrowserENSG00000111913
Varsome BrowserRIPOR2
Genetic variants : HAPMAP9750
Genomic Variants (DGV)RIPOR2 [DGVbeta]
DECIPHERRIPOR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRIPOR2 
Mutations
ICGC Data PortalRIPOR2 
TCGA Data PortalRIPOR2 
Broad Tumor PortalRIPOR2
OASIS PortalRIPOR2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDRIPOR2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RIPOR2
DgiDB (Drug Gene Interaction Database)RIPOR2
DoCM (Curated mutations)RIPOR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RIPOR2 (select a term)
intoGenRIPOR2
Cancer3DRIPOR2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611410    616515   
Orphanet
DisGeNETRIPOR2
MedgenRIPOR2
Genetic Testing Registry RIPOR2
NextProtQ9Y4F9 [Medical]
TSGene9750
GENETestsRIPOR2
Target ValidationRIPOR2
Huge Navigator RIPOR2 [HugePedia]
snp3D : Map Gene to Disease9750
BioCentury BCIQRIPOR2
ClinGenRIPOR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9750
Chemical/Pharm GKB GenePA162387677
Clinical trialRIPOR2
Miscellaneous
canSAR (ICR)RIPOR2 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRIPOR2
EVEXRIPOR2
GoPubMedRIPOR2
iHOPRIPOR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:35:43 CET 2018

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