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JOSD2 (Josephin domain containing 2)

Identity

Alias_symbol (synonym)SBBI54
Other alias
HGNC (Hugo) JOSD2
LocusID (NCBI) 126119
Atlas_Id 64723
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 50505997 and ends at 50511355 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)
RPS20 (8q12.1) / JOSD2 (19q13.33)

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)JOSD2   28853
Cards
Entrez_Gene (NCBI)JOSD2  126119  Josephin domain containing 2
AliasesSBBI54
GeneCards (Weizmann)JOSD2
Ensembl hg19 (Hinxton)ENSG00000161677 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161677 [Gene_View]  chr19:50505997-50511355 [Contig_View]  JOSD2 [Vega]
ICGC DataPortalENSG00000161677
TCGA cBioPortalJOSD2
AceView (NCBI)JOSD2
Genatlas (Paris)JOSD2
WikiGenes126119
SOURCE (Princeton)JOSD2
Genetics Home Reference (NIH)JOSD2
Genomic and cartography
GoldenPath hg38 (UCSC)JOSD2  -     chr19:50505997-50511355 -  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)JOSD2  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblJOSD2 - 19q13.33 [CytoView hg19]  JOSD2 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIJOSD2 [Mapview hg19]  JOSD2 [Mapview hg38]
OMIM615324   
Gene and transcription
Genbank (Entrez)AF247787 AK131052 BC051380 BC062416 BM970016
RefSeq transcript (Entrez)NM_001270639 NM_001270640 NM_001270641 NM_001270686 NM_138334
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)JOSD2
Cluster EST : UnigeneHs.737597 [ NCBI ]
CGAP (NCI)Hs.737597
Alternative Splicing GalleryENSG00000161677
Gene ExpressionJOSD2 [ NCBI-GEO ]   JOSD2 [ EBI - ARRAY_EXPRESS ]   JOSD2 [ SEEK ]   JOSD2 [ MEM ]
Gene Expression Viewer (FireBrowse)JOSD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)126119
GTEX Portal (Tissue expression)JOSD2
Human Protein AtlasENSG00000161677-JOSD2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TAC2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TAC2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TAC2
Splice isoforms : SwissVarQ8TAC2
Catalytic activity : Enzyme3.4.19.12 [ Enzyme-Expasy ]   3.4.19.123.4.19.12 [ IntEnz-EBI ]   3.4.19.12 [ BRENDA ]   3.4.19.12 [ KEGG ]   
PhosPhoSitePlusQ8TAC2
Domaine pattern : Prosite (Expaxy)JOSEPHIN (PS50957)   
Domains : Interpro (EBI)Josephin   
Domain families : Pfam (Sanger)Josephin (PF02099)   
Domain families : Pfam (NCBI)pfam02099   
Domain families : Smart (EMBL)Josephin (SM01246)  
Conserved Domain (NCBI)JOSD2
DMDM Disease mutations126119
Blocks (Seattle)JOSD2
SuperfamilyQ8TAC2
Human Protein Atlas [tissue]ENSG00000161677-JOSD2 [tissue]
Peptide AtlasQ8TAC2
HPRD15297
IPIIPI00152032   IPI01009587   
Protein Interaction databases
DIP (DOE-UCLA)Q8TAC2
IntAct (EBI)Q8TAC2
FunCoupENSG00000161677
BioGRIDJOSD2
STRING (EMBL)JOSD2
ZODIACJOSD2
Ontologies - Pathways
QuickGOQ8TAC2
Ontology : AmiGOthiol-dependent ubiquitin-specific protease activity  cytosol  protein deubiquitination  protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  
Ontology : EGO-EBIthiol-dependent ubiquitin-specific protease activity  cytosol  protein deubiquitination  protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  
NDEx NetworkJOSD2
Atlas of Cancer Signalling NetworkJOSD2
Wikipedia pathwaysJOSD2
Orthology - Evolution
OrthoDB126119
GeneTree (enSembl)ENSG00000161677
Phylogenetic Trees/Animal Genes : TreeFamJOSD2
HOVERGENQ8TAC2
HOGENOMQ8TAC2
Homologs : HomoloGeneJOSD2
Homology/Alignments : Family Browser (UCSC)JOSD2
Gene fusions - Rearrangements
Tumor Fusion PortalJOSD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJOSD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JOSD2
dbVarJOSD2
ClinVarJOSD2
1000_GenomesJOSD2 
Exome Variant ServerJOSD2
ExAC (Exome Aggregation Consortium)ENSG00000161677
GNOMAD BrowserENSG00000161677
Genetic variants : HAPMAP126119
Genomic Variants (DGV)JOSD2 [DGVbeta]
DECIPHERJOSD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisJOSD2 
Mutations
ICGC Data PortalJOSD2 
TCGA Data PortalJOSD2 
Broad Tumor PortalJOSD2
OASIS PortalJOSD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICJOSD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDJOSD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch JOSD2
DgiDB (Drug Gene Interaction Database)JOSD2
DoCM (Curated mutations)JOSD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JOSD2 (select a term)
intoGenJOSD2
Cancer3DJOSD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615324   
Orphanet
DisGeNETJOSD2
MedgenJOSD2
Genetic Testing Registry JOSD2
NextProtQ8TAC2 [Medical]
TSGene126119
GENETestsJOSD2
Target ValidationJOSD2
Huge Navigator JOSD2 [HugePedia]
snp3D : Map Gene to Disease126119
BioCentury BCIQJOSD2
ClinGenJOSD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD126119
Chemical/Pharm GKB GenePA142671645
Clinical trialJOSD2
Miscellaneous
canSAR (ICR)JOSD2 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJOSD2
EVEXJOSD2
GoPubMedJOSD2
iHOPJOSD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:38:45 CET 2017

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