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RHBDF2 (rhomboid 5 homolog 2)

Identity

Alias (NCBI)RHBDL5
RHBDL6
TEC
TOC
TOCG
iRhom2
HGNC (Hugo) RHBDF2
HGNC Alias symbFLJ22341
RHBDL5
TOCG
iRhom2
HGNC Previous nameRHBDL6
 TOC
HGNC Previous namerhomboid, veinlet-like 6 (Drosophila)
 tylosis with oesophageal cancer
 rhomboid 5 homolog 2 (Drosophila)
LocusID (NCBI) 79651
Atlas_Id 52834
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 76470893 and ends at 76501427 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)

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    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]  ENSG00000129667 [Sequence]  chr17:76470893-76501427 [Contig_View]  RHBDF2 [Vega]
ICGC DataPortalENSG00000129667
TCGA cBioPortalRHBDF2
AceView (NCBI)RHBDF2
Genatlas (Paris)RHBDF2
SOURCE (Princeton)RHBDF2
Genetics Home Reference (NIH)RHBDF2
Genomic and cartography
GoldenPath hg38 (UCSC)RHBDF2  -     chr17:76470893-76501427 -  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RHBDF2  -     17q25.1   [Description]    (hg19-Feb_2009)
GoldenPathRHBDF2 - 17q25.1 [CytoView hg19]  RHBDF2 - 17q25.1 [CytoView hg38]
ImmunoBaseENSG00000129667
Genome Data Viewer NCBIRHBDF2 [Mapview hg19]  
OMIM148500   614404   
Gene and transcription
Genbank (Entrez)AK025994 AK057882 AK074034 AK225684 AK292135
RefSeq transcript (Entrez)NM_001005498 NM_001376228 NM_001376229 NM_001376230 NM_024599
Consensus coding sequences : CCDS (NCBI)RHBDF2
Gene ExpressionRHBDF2 [ NCBI-GEO ]   RHBDF2 [ EBI - ARRAY_EXPRESS ]   RHBDF2 [ SEEK ]   RHBDF2 [ MEM ]
Gene Expression Viewer (FireBrowse)RHBDF2 [ Firebrowse - Broad ]
GenevisibleExpression of RHBDF2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79651
GTEX Portal (Tissue expression)RHBDF2
Human Protein AtlasENSG00000129667-RHBDF2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ6PJF5
Domains : Interpro (EBI)Peptidase_S54_rhomboid_dom    Rhomboid-like_sf    Rhomboid_SP   
Domain families : Pfam (Sanger)Rhomboid (PF01694)    Rhomboid_SP (PF12595)   
Domain families : Pfam (NCBI)pfam01694    pfam12595   
Conserved Domain (NCBI)RHBDF2
SuperfamilyQ6PJF5
AlphaFold pdb e-kbQ6PJF5   
Human Protein Atlas [tissue]ENSG00000129667-RHBDF2 [tissue]
HPRD07987
Protein Interaction databases
DIP (DOE-UCLA)Q6PJF5
IntAct (EBI)Q6PJF5
BioGRIDRHBDF2
STRING (EMBL)RHBDF2
ZODIACRHBDF2
Ontologies - Pathways
QuickGOQ6PJF5
Ontology : AmiGOnegative regulation of inflammatory response to antigenic stimulus  serine-type endopeptidase activity  protein binding  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  Golgi lumen  plasma membrane  proteolysis  protein transport  integral component of membrane  growth factor binding  regulation of epidermal growth factor receptor signaling pathway  regulation of protein secretion  negative regulation of protein secretion  
Ontology : EGO-EBInegative regulation of inflammatory response to antigenic stimulus  serine-type endopeptidase activity  protein binding  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  Golgi lumen  plasma membrane  proteolysis  protein transport  integral component of membrane  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
Homologs : HomoloGeneRHBDF2
Homology/Alignments : Family Browser (UCSC)RHBDF2
Gene fusions - Rearrangements
Fusion : QuiverRHBDF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHBDF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHBDF2
dbVarRHBDF2
ClinVarRHBDF2
MonarchRHBDF2
1000_GenomesRHBDF2 
Exome Variant ServerRHBDF2
GNOMAD BrowserENSG00000129667
Varsome BrowserRHBDF2
ACMGRHBDF2 variants
VarityQ6PJF5
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]  
Somatic Mutations in Cancer : COSMIC3DRHBDF2
Mutations and Diseases : HGMDRHBDF2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRHBDF2
DgiDB (Drug Gene Interaction Database)RHBDF2
DoCM (Curated mutations)RHBDF2
CIViC (Clinical Interpretations of Variants in Cancer)RHBDF2
Cancer3DRHBDF2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM148500    614404   
Orphanet2080   
DisGeNETRHBDF2
MedgenRHBDF2
Genetic Testing Registry RHBDF2
NextProtQ6PJF5 [Medical]
GENETestsRHBDF2
Target ValidationRHBDF2
Huge Navigator RHBDF2 [HugePedia]
ClinGenRHBDF2
Clinical trials, drugs, therapy
MyCancerGenomeRHBDF2
Protein Interactions : CTDRHBDF2
Pharm GKB GenePA134980674
PharosQ6PJF5
Clinical trialRHBDF2
Miscellaneous
canSAR (ICR)RHBDF2
HarmonizomeRHBDF2
DataMed IndexRHBDF2
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRHBDF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:28:54 CEST 2021

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