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RHBDF2 (rhomboid 5 homolog 2)

Identity

Alias_namesRHBDL6
TOC
rhomboid, veinlet-like 6 (Drosophila)
tylosis with oesophageal cancer
rhomboid 5 homolog 2 (Drosophila)
Alias_symbol (synonym)FLJ22341
RHBDL5
TOCG
iRhom2
Other aliasTEC
HGNC (Hugo) RHBDF2
LocusID (NCBI) 79651
Atlas_Id 52834
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 76470893 and ends at 76487909 bp from pter ( according to hg38-Dec_2013)

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial tylosis


External links

Nomenclature
HGNC (Hugo)RHBDF2   20788
LRG (Locus Reference Genomic)LRG_532
Cards
Entrez_Gene (NCBI)RHBDF2  79651  rhomboid 5 homolog 2
AliasesRHBDL5; RHBDL6; TEC; TOC; 
TOCG; iRhom2
GeneCards (Weizmann)RHBDF2
Ensembl hg19 (Hinxton)ENSG00000129667 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129667 [Gene_View]  chr17:76470893-76487909 [Contig_View]  RHBDF2 [Vega]
ICGC DataPortalENSG00000129667
TCGA cBioPortalRHBDF2
AceView (NCBI)RHBDF2
Genatlas (Paris)RHBDF2
WikiGenes79651
SOURCE (Princeton)RHBDF2
Genetics Home Reference (NIH)RHBDF2
Genomic and cartography
GoldenPath hg38 (UCSC)RHBDF2  -     chr17:76470893-76487909 -  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RHBDF2  -     17q25.1   [Description]    (hg19-Feb_2009)
EnsemblRHBDF2 - 17q25.1 [CytoView hg19]  RHBDF2 - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBIRHBDF2 [Mapview hg19]  RHBDF2 [Mapview hg38]
OMIM148500   614404   
Gene and transcription
Genbank (Entrez)AK025994 AK057882 AK074034 AK225684 AK292135
RefSeq transcript (Entrez)NM_001005498 NM_024599
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RHBDF2
Cluster EST : UnigeneHs.464157 [ NCBI ]
CGAP (NCI)Hs.464157
Alternative Splicing GalleryENSG00000129667
Gene ExpressionRHBDF2 [ NCBI-GEO ]   RHBDF2 [ EBI - ARRAY_EXPRESS ]   RHBDF2 [ SEEK ]   RHBDF2 [ MEM ]
Gene Expression Viewer (FireBrowse)RHBDF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79651
GTEX Portal (Tissue expression)RHBDF2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6PJF5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6PJF5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6PJF5
Splice isoforms : SwissVarQ6PJF5
PhosPhoSitePlusQ6PJF5
Domains : Interpro (EBI)Peptidase_S54_rhomboid    Peptidase_S54_rhomboid_dom    Rhomboid_SP   
Domain families : Pfam (Sanger)Rhomboid (PF01694)    Rhomboid_SP (PF12595)   
Domain families : Pfam (NCBI)pfam01694    pfam12595   
Conserved Domain (NCBI)RHBDF2
DMDM Disease mutations79651
Blocks (Seattle)RHBDF2
SuperfamilyQ6PJF5
Human Protein AtlasENSG00000129667
Peptide AtlasQ6PJF5
HPRD07987
IPIIPI00433499   IPI00470604   IPI00922473   IPI00446876   
Protein Interaction databases
DIP (DOE-UCLA)Q6PJF5
IntAct (EBI)Q6PJF5
FunCoupENSG00000129667
BioGRIDRHBDF2
STRING (EMBL)RHBDF2
ZODIACRHBDF2
Ontologies - Pathways
QuickGOQ6PJF5
Ontology : AmiGOserine-type endopeptidase activity  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  protein transport  integral component of membrane  protein processing  growth factor binding  regulation of epidermal growth factor receptor signaling pathway  regulation of protein secretion  negative regulation of protein secretion  
Ontology : EGO-EBIserine-type endopeptidase activity  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  protein transport  integral component of membrane  protein processing  growth factor binding  regulation of epidermal growth factor receptor signaling pathway  regulation of protein secretion  negative regulation of protein secretion  
NDEx NetworkRHBDF2
Atlas of Cancer Signalling NetworkRHBDF2
Wikipedia pathwaysRHBDF2
Orthology - Evolution
OrthoDB79651
GeneTree (enSembl)ENSG00000129667
Phylogenetic Trees/Animal Genes : TreeFamRHBDF2
HOVERGENQ6PJF5
HOGENOMQ6PJF5
Homologs : HomoloGeneRHBDF2
Homology/Alignments : Family Browser (UCSC)RHBDF2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHBDF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHBDF2
dbVarRHBDF2
ClinVarRHBDF2
1000_GenomesRHBDF2 
Exome Variant ServerRHBDF2
ExAC (Exome Aggregation Consortium)RHBDF2 (select the gene name)
Genetic variants : HAPMAP79651
Genomic Variants (DGV)RHBDF2 [DGVbeta]
DECIPHERRHBDF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRHBDF2 
Mutations
ICGC Data PortalRHBDF2 
TCGA Data PortalRHBDF2 
Broad Tumor PortalRHBDF2
OASIS PortalRHBDF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRHBDF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRHBDF2
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 RHBDF2
DgiDB (Drug Gene Interaction Database)RHBDF2
DoCM (Curated mutations)RHBDF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RHBDF2 (select a term)
intoGenRHBDF2
Cancer3DRHBDF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM148500    614404   
Orphanet2080   
MedgenRHBDF2
Genetic Testing Registry RHBDF2
NextProtQ6PJF5 [Medical]
TSGene79651
GENETestsRHBDF2
Huge Navigator RHBDF2 [HugePedia]
snp3D : Map Gene to Disease79651
BioCentury BCIQRHBDF2
ClinGenRHBDF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79651
Chemical/Pharm GKB GenePA134980674
Clinical trialRHBDF2
Miscellaneous
canSAR (ICR)RHBDF2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRHBDF2
EVEXRHBDF2
GoPubMedRHBDF2
iHOPRHBDF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:34:56 CEST 2017

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