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RHBDL3 (rhomboid like 3)

Identity

Alias_namesRHBDL4
rhomboid, veinlet-like 4 (Drosophila)
rhomboid, veinlet-like 3 (Drosophila)
Alias_symbol (synonym)VRHO
Other alias
HGNC (Hugo) RHBDL3
LocusID (NCBI) 162494
Atlas_Id 72626
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 32266176 and ends at 32324661 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LASP1 (17q12) / RHBDL3 (17q11.2)MED1 (17q12) / RHBDL3 (17q11.2)

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)RHBDL3   16502
Cards
Entrez_Gene (NCBI)RHBDL3  162494  rhomboid like 3
AliasesRHBDL4; VRHO
GeneCards (Weizmann)RHBDL3
Ensembl hg19 (Hinxton)ENSG00000141314 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141314 [Gene_View]  chr17:32266176-32324661 [Contig_View]  RHBDL3 [Vega]
ICGC DataPortalENSG00000141314
TCGA cBioPortalRHBDL3
AceView (NCBI)RHBDL3
Genatlas (Paris)RHBDL3
WikiGenes162494
SOURCE (Princeton)RHBDL3
Genetics Home Reference (NIH)RHBDL3
Genomic and cartography
GoldenPath hg38 (UCSC)RHBDL3  -     chr17:32266176-32324661 +  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RHBDL3  -     17q11.2   [Description]    (hg19-Feb_2009)
EnsemblRHBDL3 - 17q11.2 [CytoView hg19]  RHBDL3 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBIRHBDL3 [Mapview hg19]  RHBDL3 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AJ313480 AK124570 AK127490 BC016953 BC100975
RefSeq transcript (Entrez)NM_001330181 NM_138328
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RHBDL3
Cluster EST : UnigeneHs.655027 [ NCBI ]
CGAP (NCI)Hs.655027
Alternative Splicing GalleryENSG00000141314
Gene ExpressionRHBDL3 [ NCBI-GEO ]   RHBDL3 [ EBI - ARRAY_EXPRESS ]   RHBDL3 [ SEEK ]   RHBDL3 [ MEM ]
Gene Expression Viewer (FireBrowse)RHBDL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)162494
GTEX Portal (Tissue expression)RHBDL3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP58872   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP58872  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP58872
Splice isoforms : SwissVarP58872
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 ]   
PhosPhoSitePlusP58872
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_hand_dom    Peptidase_S54_rhomboid    Peptidase_S54_rhomboid_dom    Peptidase_S54_rhomboid_met   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)    Rhomboid (PF01694)   
Domain families : Pfam (NCBI)pfam13499    pfam01694   
Conserved Domain (NCBI)RHBDL3
DMDM Disease mutations162494
Blocks (Seattle)RHBDL3
SuperfamilyP58872
Human Protein AtlasENSG00000141314
Peptide AtlasP58872
HPRD07501
IPIIPI00293629   IPI00844198   IPI01013386   IPI01015552   
Protein Interaction databases
DIP (DOE-UCLA)P58872
IntAct (EBI)P58872
FunCoupENSG00000141314
BioGRIDRHBDL3
STRING (EMBL)RHBDL3
ZODIACRHBDL3
Ontologies - Pathways
QuickGOP58872
Ontology : AmiGOserine-type endopeptidase activity  calcium ion binding  integral component of membrane  protein processing  
Ontology : EGO-EBIserine-type endopeptidase activity  calcium ion binding  integral component of membrane  protein processing  
NDEx NetworkRHBDL3
Atlas of Cancer Signalling NetworkRHBDL3
Wikipedia pathwaysRHBDL3
Orthology - Evolution
OrthoDB162494
GeneTree (enSembl)ENSG00000141314
Phylogenetic Trees/Animal Genes : TreeFamRHBDL3
HOVERGENP58872
HOGENOMP58872
Homologs : HomoloGeneRHBDL3
Homology/Alignments : Family Browser (UCSC)RHBDL3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHBDL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHBDL3
dbVarRHBDL3
ClinVarRHBDL3
1000_GenomesRHBDL3 
Exome Variant ServerRHBDL3
ExAC (Exome Aggregation Consortium)RHBDL3 (select the gene name)
Genetic variants : HAPMAP162494
Genomic Variants (DGV)RHBDL3 [DGVbeta]
DECIPHERRHBDL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRHBDL3 
Mutations
ICGC Data PortalRHBDL3 
TCGA Data PortalRHBDL3 
Broad Tumor PortalRHBDL3
OASIS PortalRHBDL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRHBDL3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRHBDL3
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 RHBDL3
DgiDB (Drug Gene Interaction Database)RHBDL3
DoCM (Curated mutations)RHBDL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RHBDL3 (select a term)
intoGenRHBDL3
Cancer3DRHBDL3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenRHBDL3
Genetic Testing Registry RHBDL3
NextProtP58872 [Medical]
TSGene162494
GENETestsRHBDL3
Target ValidationRHBDL3
Huge Navigator RHBDL3 [HugePedia]
snp3D : Map Gene to Disease162494
BioCentury BCIQRHBDL3
ClinGenRHBDL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD162494
Chemical/Pharm GKB GenePA34384
Clinical trialRHBDL3
Miscellaneous
canSAR (ICR)RHBDL3 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRHBDL3
EVEXRHBDL3
GoPubMedRHBDL3
iHOPRHBDL3
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 13:36:10 CEST 2017

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