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RHBDD2 (rhomboid domain containing 2)

Identity

Alias_namesRHBDL7
rhomboid
Alias_symbol (synonym)NPD007
Other alias
HGNC (Hugo) RHBDD2
LocusID (NCBI) 57414
Atlas_Id 51308
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 75878992 and ends at 75888926 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RHBDD2 (7q11.23) / JUP (17q21.2)RHBDD2 (7q11.23) / PDE6D (2q37.1)RHBDD2 (7q11.23) / RHBDD2 (7q11.23)

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)RHBDD2   23082
Cards
Entrez_Gene (NCBI)RHBDD2  57414  rhomboid domain containing 2
AliasesNPD007; RHBDL7
GeneCards (Weizmann)RHBDD2
Ensembl hg19 (Hinxton)ENSG00000005486 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000005486 [Gene_View]  chr7:75878992-75888926 [Contig_View]  RHBDD2 [Vega]
ICGC DataPortalENSG00000005486
TCGA cBioPortalRHBDD2
AceView (NCBI)RHBDD2
Genatlas (Paris)RHBDD2
WikiGenes57414
SOURCE (Princeton)RHBDD2
Genetics Home Reference (NIH)RHBDD2
Genomic and cartography
GoldenPath hg38 (UCSC)RHBDD2  -     chr7:75878992-75888926 +  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RHBDD2  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblRHBDD2 - 7q11.23 [CytoView hg19]  RHBDD2 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIRHBDD2 [Mapview hg19]  RHBDD2 [Mapview hg38]
OMIM615203   
Gene and transcription
Genbank (Entrez)AF226732 AK026590 BC006234 BC069017 BG707286
RefSeq transcript (Entrez)NM_001040456 NM_001040457 NM_001346186 NM_001346187 NM_001346188 NM_001346189 NM_020684
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RHBDD2
Cluster EST : UnigeneHs.488827 [ NCBI ]
CGAP (NCI)Hs.488827
Alternative Splicing GalleryENSG00000005486
Gene ExpressionRHBDD2 [ NCBI-GEO ]   RHBDD2 [ EBI - ARRAY_EXPRESS ]   RHBDD2 [ SEEK ]   RHBDD2 [ MEM ]
Gene Expression Viewer (FireBrowse)RHBDD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57414
GTEX Portal (Tissue expression)RHBDD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NTF9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NTF9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NTF9
Splice isoforms : SwissVarQ6NTF9
PhosPhoSitePlusQ6NTF9
Domains : Interpro (EBI)Peptidase_S54_rhomboid_dom   
Domain families : Pfam (Sanger)Rhomboid (PF01694)   
Domain families : Pfam (NCBI)pfam01694   
Conserved Domain (NCBI)RHBDD2
DMDM Disease mutations57414
Blocks (Seattle)RHBDD2
SuperfamilyQ6NTF9
Human Protein AtlasENSG00000005486
Peptide AtlasQ6NTF9
HPRD11492
IPIIPI00010255   IPI00925356   IPI00184433   IPI00759695   
Protein Interaction databases
DIP (DOE-UCLA)Q6NTF9
IntAct (EBI)Q6NTF9
FunCoupENSG00000005486
BioGRIDRHBDD2
STRING (EMBL)RHBDD2
ZODIACRHBDD2
Ontologies - Pathways
QuickGOQ6NTF9
Ontology : AmiGOGolgi membrane  serine-type endopeptidase activity  nucleus  nucleoplasm  Golgi apparatus  proteolysis  integral component of membrane  perinuclear region of cytoplasm  
Ontology : EGO-EBIGolgi membrane  serine-type endopeptidase activity  nucleus  nucleoplasm  Golgi apparatus  proteolysis  integral component of membrane  perinuclear region of cytoplasm  
NDEx NetworkRHBDD2
Atlas of Cancer Signalling NetworkRHBDD2
Wikipedia pathwaysRHBDD2
Orthology - Evolution
OrthoDB57414
GeneTree (enSembl)ENSG00000005486
Phylogenetic Trees/Animal Genes : TreeFamRHBDD2
HOVERGENQ6NTF9
HOGENOMQ6NTF9
Homologs : HomoloGeneRHBDD2
Homology/Alignments : Family Browser (UCSC)RHBDD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHBDD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHBDD2
dbVarRHBDD2
ClinVarRHBDD2
1000_GenomesRHBDD2 
Exome Variant ServerRHBDD2
ExAC (Exome Aggregation Consortium)RHBDD2 (select the gene name)
Genetic variants : HAPMAP57414
Genomic Variants (DGV)RHBDD2 [DGVbeta]
DECIPHERRHBDD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRHBDD2 
Mutations
ICGC Data PortalRHBDD2 
TCGA Data PortalRHBDD2 
Broad Tumor PortalRHBDD2
OASIS PortalRHBDD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRHBDD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRHBDD2
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 RHBDD2
DgiDB (Drug Gene Interaction Database)RHBDD2
DoCM (Curated mutations)RHBDD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RHBDD2 (select a term)
intoGenRHBDD2
Cancer3DRHBDD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615203   
Orphanet
MedgenRHBDD2
Genetic Testing Registry RHBDD2
NextProtQ6NTF9 [Medical]
TSGene57414
GENETestsRHBDD2
Target ValidationRHBDD2
Huge Navigator RHBDD2 [HugePedia]
snp3D : Map Gene to Disease57414
BioCentury BCIQRHBDD2
ClinGenRHBDD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57414
Chemical/Pharm GKB GenePA134864375
Clinical trialRHBDD2
Miscellaneous
canSAR (ICR)RHBDD2 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRHBDD2
EVEXRHBDD2
GoPubMedRHBDD2
iHOPRHBDD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:05:47 CEST 2017

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