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HSCB (HscB mitochondrial iron-sulfur cluster cochaperone)

Identity

Alias_namessubfamily C
member 20
Alias_symbol (synonym)HSC20
DNAJC20
Jac1
Other aliasJAC1
HGNC (Hugo) HSCB
LocusID (NCBI) 150274
Atlas_Id 46982
Location 22q12.1  [Link to chromosome band 22q12]
Location_base_pair Starts at 28742032 and ends at 28757518 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)
ARHGEF18 (19p13.2) / HSCB (22q12.1)HSCB (22q12.1) / CFAP206 (6q15)

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)HSCB   28913
Cards
Entrez_Gene (NCBI)HSCB  150274  HscB mitochondrial iron-sulfur cluster cochaperone
AliasesDNAJC20; HSC20; JAC1
GeneCards (Weizmann)HSCB
Ensembl hg19 (Hinxton)ENSG00000100209 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100209 [Gene_View]  chr22:28742032-28757518 [Contig_View]  HSCB [Vega]
ICGC DataPortalENSG00000100209
TCGA cBioPortalHSCB
AceView (NCBI)HSCB
Genatlas (Paris)HSCB
WikiGenes150274
SOURCE (Princeton)HSCB
Genetics Home Reference (NIH)HSCB
Genomic and cartography
GoldenPath hg38 (UCSC)HSCB  -     chr22:28742032-28757518 +  22q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSCB  -     22q12.1   [Description]    (hg19-Feb_2009)
EnsemblHSCB - 22q12.1 [CytoView hg19]  HSCB - 22q12.1 [CytoView hg38]
Mapping of homologs : NCBIHSCB [Mapview hg19]  HSCB [Mapview hg38]
OMIM608142   
Gene and transcription
Genbank (Entrez)AA804625 AY191719 BC000004 BC065569 BG696148
RefSeq transcript (Entrez)NM_001318314 NM_001318315 NM_001318316 NM_172002
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HSCB
Cluster EST : UnigeneHs.632780 [ NCBI ]
CGAP (NCI)Hs.632780
Alternative Splicing GalleryENSG00000100209
Gene ExpressionHSCB [ NCBI-GEO ]   HSCB [ EBI - ARRAY_EXPRESS ]   HSCB [ SEEK ]   HSCB [ MEM ]
Gene Expression Viewer (FireBrowse)HSCB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)150274
GTEX Portal (Tissue expression)HSCB
Human Protein AtlasENSG00000100209-HSCB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWL3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWL3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWL3
Splice isoforms : SwissVarQ8IWL3
PhosPhoSitePlusQ8IWL3
Domains : Interpro (EBI)DnaJ_domain    HscB    HscB_oligo_C   
Domain families : Pfam (Sanger)HSCB_C (PF07743)   
Domain families : Pfam (NCBI)pfam07743   
Conserved Domain (NCBI)HSCB
DMDM Disease mutations150274
Blocks (Seattle)HSCB
PDB (SRS)3BVO   
PDB (PDBSum)3BVO   
PDB (IMB)3BVO   
PDB (RSDB)3BVO   
Structural Biology KnowledgeBase3BVO   
SCOP (Structural Classification of Proteins)3BVO   
CATH (Classification of proteins structures)3BVO   
SuperfamilyQ8IWL3
Human Protein Atlas [tissue]ENSG00000100209-HSCB [tissue]
Peptide AtlasQ8IWL3
HPRD16289
IPIIPI00217313   IPI00878555   IPI00878777   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWL3
IntAct (EBI)Q8IWL3
FunCoupENSG00000100209
BioGRIDHSCB
STRING (EMBL)HSCB
ZODIACHSCB
Ontologies - Pathways
QuickGOQ8IWL3
Ontology : AmiGOATPase activator activity  molecular_function  protein binding  nucleus  cytoplasm  mitochondrion  mitochondrion  cytosol  iron-sulfur cluster assembly  positive regulation of ATPase activity  metal ion binding  chaperone binding  protein oligomerization  protein maturation by iron-sulfur cluster transfer  
Ontology : EGO-EBIATPase activator activity  molecular_function  protein binding  nucleus  cytoplasm  mitochondrion  mitochondrion  cytosol  iron-sulfur cluster assembly  positive regulation of ATPase activity  metal ion binding  chaperone binding  protein oligomerization  protein maturation by iron-sulfur cluster transfer  
NDEx NetworkHSCB
Atlas of Cancer Signalling NetworkHSCB
Wikipedia pathwaysHSCB
Orthology - Evolution
OrthoDB150274
GeneTree (enSembl)ENSG00000100209
Phylogenetic Trees/Animal Genes : TreeFamHSCB
HOVERGENQ8IWL3
HOGENOMQ8IWL3
Homologs : HomoloGeneHSCB
Homology/Alignments : Family Browser (UCSC)HSCB
Gene fusions - Rearrangements
Tumor Fusion PortalHSCB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSCB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSCB
dbVarHSCB
ClinVarHSCB
1000_GenomesHSCB 
Exome Variant ServerHSCB
ExAC (Exome Aggregation Consortium)ENSG00000100209
GNOMAD BrowserENSG00000100209
Genetic variants : HAPMAP150274
Genomic Variants (DGV)HSCB [DGVbeta]
DECIPHERHSCB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHSCB 
Mutations
ICGC Data PortalHSCB 
TCGA Data PortalHSCB 
Broad Tumor PortalHSCB
OASIS PortalHSCB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSCB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSCB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HSCB
DgiDB (Drug Gene Interaction Database)HSCB
DoCM (Curated mutations)HSCB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSCB (select a term)
intoGenHSCB
Cancer3DHSCB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608142   
Orphanet
DisGeNETHSCB
MedgenHSCB
Genetic Testing Registry HSCB
NextProtQ8IWL3 [Medical]
TSGene150274
GENETestsHSCB
Target ValidationHSCB
Huge Navigator HSCB [HugePedia]
snp3D : Map Gene to Disease150274
BioCentury BCIQHSCB
ClinGenHSCB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD150274
Chemical/Pharm GKB GenePA162391621
Clinical trialHSCB
Miscellaneous
canSAR (ICR)HSCB (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSCB
EVEXHSCB
GoPubMedHSCB
iHOPHSCB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:16:53 CET 2017

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