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RHBDD3 (rhomboid domain containing 3)

Identity

Alias_namesC22orf3
chromosome 22 open reading frame 3
Alias_symbol (synonym)PTAG
Other aliasHS984G1A
HGNC (Hugo) RHBDD3
LocusID (NCBI) 25807
Atlas_Id 56589
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 29655844 and ends at 29663914 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RHBDD3 (22q12.2) / D2HGDH (2q37.3)RHBDD3 (22q12.2) / GRB2 (17q25.1)RHBDD3 (22q12.2) / RHBDD3 (22q12.2)
SLC1A3 (5p13.2) / RHBDD3 (22q12.2)

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)RHBDD3   1308
Cards
Entrez_Gene (NCBI)RHBDD3  25807  rhomboid domain containing 3
AliasesC22orf3; HS984G1A; PTAG
GeneCards (Weizmann)RHBDD3
Ensembl hg19 (Hinxton)ENSG00000100263 [Gene_View]  chr22:29655844-29663914 [Contig_View]  RHBDD3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100263 [Gene_View]  chr22:29655844-29663914 [Contig_View]  RHBDD3 [Vega]
ICGC DataPortalENSG00000100263
TCGA cBioPortalRHBDD3
AceView (NCBI)RHBDD3
Genatlas (Paris)RHBDD3
WikiGenes25807
SOURCE (Princeton)RHBDD3
Genetics Home Reference (NIH)RHBDD3
Genomic and cartography
GoldenPath hg19 (UCSC)RHBDD3  -     chr22:29655844-29663914 -  22q12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RHBDD3  -     22q12.2   [Description]    (hg38-Dec_2013)
EnsemblRHBDD3 - 22q12.2 [CytoView hg19]  RHBDD3 - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBIRHBDD3 [Mapview hg19]  RHBDD3 [Mapview hg38]
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001329536 NM_012265
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RHBDD3
Cluster EST : UnigeneHs.106730 [ NCBI ]
CGAP (NCI)Hs.106730
Alternative Splicing GalleryENSG00000100263
Gene ExpressionRHBDD3 [ NCBI-GEO ]   RHBDD3 [ EBI - ARRAY_EXPRESS ]   RHBDD3 [ SEEK ]   RHBDD3 [ MEM ]
Gene Expression Viewer (FireBrowse)RHBDD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25807
GTEX Portal (Tissue expression)RHBDD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3P4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y3P4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y3P4
Splice isoforms : SwissVarQ9Y3P4
PhosPhoSitePlusQ9Y3P4
Domains : Interpro (EBI)Peptidase_S54_rhomboid_dom    UBA    UBA-like   
Domain families : Pfam (Sanger)Rhomboid (PF01694)    UBA (PF00627)   
Domain families : Pfam (NCBI)pfam01694    pfam00627   
Conserved Domain (NCBI)RHBDD3
DMDM Disease mutations25807
Blocks (Seattle)RHBDD3
SuperfamilyQ9Y3P4
Human Protein AtlasENSG00000100263
Peptide AtlasQ9Y3P4
HPRD12800
IPIIPI00215831   IPI00879628   IPI00877700   IPI00877855   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3P4
IntAct (EBI)Q9Y3P4
FunCoupENSG00000100263
BioGRIDRHBDD3
STRING (EMBL)RHBDD3
ZODIACRHBDD3
Ontologies - Pathways
QuickGOQ9Y3P4
Ontology : AmiGOMAPK cascade  liver development  regulation of acute inflammatory response  serine-type endopeptidase activity  intracellular  proteolysis  response to xenobiotic stimulus  integral component of membrane  negative regulation of natural killer cell activation  positive regulation of protein catabolic process  regulation of protein secretion  
Ontology : EGO-EBIMAPK cascade  liver development  regulation of acute inflammatory response  serine-type endopeptidase activity  intracellular  proteolysis  response to xenobiotic stimulus  integral component of membrane  negative regulation of natural killer cell activation  positive regulation of protein catabolic process  regulation of protein secretion  
NDEx NetworkRHBDD3
Atlas of Cancer Signalling NetworkRHBDD3
Wikipedia pathwaysRHBDD3
Orthology - Evolution
OrthoDB25807
GeneTree (enSembl)ENSG00000100263
Phylogenetic Trees/Animal Genes : TreeFamRHBDD3
HOVERGENQ9Y3P4
HOGENOMQ9Y3P4
Homologs : HomoloGeneRHBDD3
Homology/Alignments : Family Browser (UCSC)RHBDD3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHBDD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHBDD3
dbVarRHBDD3
ClinVarRHBDD3
1000_GenomesRHBDD3 
Exome Variant ServerRHBDD3
ExAC (Exome Aggregation Consortium)RHBDD3 (select the gene name)
Genetic variants : HAPMAP25807
Genomic Variants (DGV)RHBDD3 [DGVbeta]
DECIPHER (Syndromes)22:29655844-29663914  ENSG00000100263
CONAN: Copy Number AnalysisRHBDD3 
Mutations
ICGC Data PortalRHBDD3 
TCGA Data PortalRHBDD3 
Broad Tumor PortalRHBDD3
OASIS PortalRHBDD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRHBDD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRHBDD3
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 RHBDD3
DgiDB (Drug Gene Interaction Database)RHBDD3
DoCM (Curated mutations)RHBDD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RHBDD3 (select a term)
intoGenRHBDD3
Cancer3DRHBDD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenRHBDD3
Genetic Testing Registry RHBDD3
NextProtQ9Y3P4 [Medical]
TSGene25807
GENETestsRHBDD3
Huge Navigator RHBDD3 [HugePedia]
snp3D : Map Gene to Disease25807
BioCentury BCIQRHBDD3
ClinGenRHBDD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25807
Chemical/Pharm GKB GenePA25887
Clinical trialRHBDD3
Miscellaneous
canSAR (ICR)RHBDD3 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRHBDD3
EVEXRHBDD3
GoPubMedRHBDD3
iHOPRHBDD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:17:24 CEST 2017

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