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RHBDL2 (rhomboid like 2)

Identity

Alias_namesrhomboid (veinlet, Drosophila)-like 2
rhomboid, veinlet-like 2 (Drosophila)
Alias_symbol (synonym)FLJ20435
Other aliasRRP2
HGNC (Hugo) RHBDL2
LocusID (NCBI) 54933
Atlas_Id 72625
Location 1p34.3  [Link to chromosome band 1p34]
Location_base_pair Starts at 38885806 and ends at 38929513 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)
C16orf45 (16p13.11) / RHBDL2 (1p34.3)RHBDL2 (1p34.3) / GJA9 (1p34.3)RHBDL2 (1p34.3) / MYCBP (1p34.3)
RHBDL2 (1p34.3) / NXN (17p13.3)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;16)(p34;p13) C16orf45/RHBDL2

External links

Nomenclature
HGNC (Hugo)RHBDL2   16083
Cards
Entrez_Gene (NCBI)RHBDL2  54933  rhomboid like 2
AliasesRRP2
GeneCards (Weizmann)RHBDL2
Ensembl hg19 (Hinxton)ENSG00000158315 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158315 [Gene_View]  chr1:38885806-38929513 [Contig_View]  RHBDL2 [Vega]
ICGC DataPortalENSG00000158315
TCGA cBioPortalRHBDL2
AceView (NCBI)RHBDL2
Genatlas (Paris)RHBDL2
WikiGenes54933
SOURCE (Princeton)RHBDL2
Genetics Home Reference (NIH)RHBDL2
Genomic and cartography
GoldenPath hg38 (UCSC)RHBDL2  -     chr1:38885806-38929513 -  1p34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RHBDL2  -     1p34.3   [Description]    (hg19-Feb_2009)
EnsemblRHBDL2 - 1p34.3 [CytoView hg19]  RHBDL2 - 1p34.3 [CytoView hg38]
Mapping of homologs : NCBIRHBDL2 [Mapview hg19]  RHBDL2 [Mapview hg38]
OMIM608962   
Gene and transcription
Genbank (Entrez)AK097621 AK294115 AW080436 AY126343 BC013103
RefSeq transcript (Entrez)NM_001304746 NM_017821
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RHBDL2
Cluster EST : UnigeneHs.524626 [ NCBI ]
CGAP (NCI)Hs.524626
Alternative Splicing GalleryENSG00000158315
Gene ExpressionRHBDL2 [ NCBI-GEO ]   RHBDL2 [ EBI - ARRAY_EXPRESS ]   RHBDL2 [ SEEK ]   RHBDL2 [ MEM ]
Gene Expression Viewer (FireBrowse)RHBDL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54933
GTEX Portal (Tissue expression)RHBDL2
Human Protein AtlasENSG00000158315-RHBDL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NX52   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NX52  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NX52
Splice isoforms : SwissVarQ9NX52
Catalytic activity : Enzyme3.4.21.105 [ Enzyme-Expasy ]   3.4.21.1053.4.21.105 [ IntEnz-EBI ]   3.4.21.105 [ BRENDA ]   3.4.21.105 [ KEGG ]   
PhosPhoSitePlusQ9NX52
Domains : Interpro (EBI)Peptidase_S54_rhomboid    Peptidase_S54_rhomboid_dom    Peptidase_S54_rhomboid_met   
Domain families : Pfam (Sanger)Rhomboid (PF01694)   
Domain families : Pfam (NCBI)pfam01694   
Conserved Domain (NCBI)RHBDL2
DMDM Disease mutations54933
Blocks (Seattle)RHBDL2
SuperfamilyQ9NX52
Human Protein Atlas [tissue]ENSG00000158315-RHBDL2 [tissue]
Peptide AtlasQ9NX52
HPRD07151
IPIIPI00939901   IPI00937868   IPI00922933   
Protein Interaction databases
DIP (DOE-UCLA)Q9NX52
IntAct (EBI)Q9NX52
FunCoupENSG00000158315
BioGRIDRHBDL2
STRING (EMBL)RHBDL2
ZODIACRHBDL2
Ontologies - Pathways
QuickGOQ9NX52
Ontology : AmiGOserine-type endopeptidase activity  plasma membrane  integral component of membrane  protein processing  
Ontology : EGO-EBIserine-type endopeptidase activity  plasma membrane  integral component of membrane  protein processing  
NDEx NetworkRHBDL2
Atlas of Cancer Signalling NetworkRHBDL2
Wikipedia pathwaysRHBDL2
Orthology - Evolution
OrthoDB54933
GeneTree (enSembl)ENSG00000158315
Phylogenetic Trees/Animal Genes : TreeFamRHBDL2
HOVERGENQ9NX52
HOGENOMQ9NX52
Homologs : HomoloGeneRHBDL2
Homology/Alignments : Family Browser (UCSC)RHBDL2
Gene fusions - Rearrangements
Fusion : QuiverRHBDL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHBDL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHBDL2
dbVarRHBDL2
ClinVarRHBDL2
1000_GenomesRHBDL2 
Exome Variant ServerRHBDL2
ExAC (Exome Aggregation Consortium)ENSG00000158315
GNOMAD BrowserENSG00000158315
Genetic variants : HAPMAP54933
Genomic Variants (DGV)RHBDL2 [DGVbeta]
DECIPHERRHBDL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRHBDL2 
Mutations
ICGC Data PortalRHBDL2 
TCGA Data PortalRHBDL2 
Broad Tumor PortalRHBDL2
OASIS PortalRHBDL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRHBDL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRHBDL2
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 RHBDL2
DgiDB (Drug Gene Interaction Database)RHBDL2
DoCM (Curated mutations)RHBDL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RHBDL2 (select a term)
intoGenRHBDL2
Cancer3DRHBDL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608962   
Orphanet
DisGeNETRHBDL2
MedgenRHBDL2
Genetic Testing Registry RHBDL2
NextProtQ9NX52 [Medical]
TSGene54933
GENETestsRHBDL2
Target ValidationRHBDL2
Huge Navigator RHBDL2 [HugePedia]
snp3D : Map Gene to Disease54933
BioCentury BCIQRHBDL2
ClinGenRHBDL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54933
Chemical/Pharm GKB GenePA34383
Clinical trialRHBDL2
Miscellaneous
canSAR (ICR)RHBDL2 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRHBDL2
EVEXRHBDL2
GoPubMedRHBDL2
iHOPRHBDL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:49:24 CET 2018
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