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DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5)

Identity

Alias_namesCLN4
ceroid-lipofuscinosis, neuronal 4 (Kufs disease)
DnaJ (Hsp40) homolog, subfamily C, member 5
Alias_symbol (synonym)FLJ00118
FLJ13070
DNAJC5A
HGNC (Hugo) DNAJC5
LocusID (NCBI) 80331
Atlas_Id 46733
Location 20q13.33  [Link to chromosome band 20q13]
Location_base_pair Starts at 62526455 and ends at 62567384 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DNAJC5 (20q13.33) / CLASRP (19q13.32)DNAJC5 (20q13.33) / DNAJC5 (20q13.33)DNAJC5 (20q13.33) / MED1 (17q12)
DNAJC5 (20q13.33) / TPD52L2 (20q13.33)ELK4 (1q32.1) / DNAJC5 (20q13.33)PCMTD2 (20q13.33) / DNAJC5 (20q13.33)
PIGR (1q32.1) / DNAJC5 (20q13.33)PRPF6 (20q13.33) / DNAJC5 (20q13.33)SDCCAG8 (1q43) / DNAJC5 (20q13.33)
TPD52L2 (20q13.33) / DNAJC5 (20q13.33)DNAJC5 20q13.33 / TPD52L2 20q13.33PCMTD2 20q13.33 / DNAJC5 20q13.33
PRPF6 20q13.33 / DNAJC5 20q13.33

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)DNAJC5   16235
LRG (Locus Reference Genomic)LRG_831
Cards
Entrez_Gene (NCBI)DNAJC5  80331  DnaJ heat shock protein family (Hsp40) member C5
AliasesCLN4; CLN4B; CSP; DNAJC5A; 
NCL; mir-941-2; mir-941-3; mir-941-4; mir-941-5
GeneCards (Weizmann)DNAJC5
Ensembl hg19 (Hinxton)ENSG00000101152 [Gene_View]  chr20:62526455-62567384 [Contig_View]  DNAJC5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000101152 [Gene_View]  chr20:62526455-62567384 [Contig_View]  DNAJC5 [Vega]
ICGC DataPortalENSG00000101152
TCGA cBioPortalDNAJC5
AceView (NCBI)DNAJC5
Genatlas (Paris)DNAJC5
WikiGenes80331
SOURCE (Princeton)DNAJC5
Genetics Home Reference (NIH)DNAJC5
Genomic and cartography
GoldenPath hg19 (UCSC)DNAJC5  -     chr20:62526455-62567384 +  20q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DNAJC5  -     20q13.33   [Description]    (hg38-Dec_2013)
EnsemblDNAJC5 - 20q13.33 [CytoView hg19]  DNAJC5 - 20q13.33 [CytoView hg38]
Mapping of homologs : NCBIDNAJC5 [Mapview hg19]  DNAJC5 [Mapview hg38]
OMIM611203   
Gene and transcription
Genbank (Entrez)AK023132 AK024508 AK074041 AK128776 AK289585
RefSeq transcript (Entrez)NM_025219
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_029805 NT_011362 NW_004929419
Consensus coding sequences : CCDS (NCBI)DNAJC5
Cluster EST : UnigeneHs.164419 [ NCBI ]
CGAP (NCI)Hs.164419
Alternative Splicing GalleryENSG00000101152
Gene ExpressionDNAJC5 [ NCBI-GEO ]   DNAJC5 [ EBI - ARRAY_EXPRESS ]   DNAJC5 [ SEEK ]   DNAJC5 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAJC5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80331
GTEX Portal (Tissue expression)DNAJC5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H3Z4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H3Z4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H3Z4
Splice isoforms : SwissVarQ9H3Z4
PhosPhoSitePlusQ9H3Z4
Domaine pattern : Prosite (Expaxy)DNAJ_1 (PS00636)    DNAJ_2 (PS50076)   
Domains : Interpro (EBI)DnaJ_domain    DnaJ_domain_CS   
Domain families : Pfam (Sanger)DnaJ (PF00226)   
Domain families : Pfam (NCBI)pfam00226   
Domain families : Smart (EMBL)DnaJ (SM00271)  
Conserved Domain (NCBI)DNAJC5
DMDM Disease mutations80331
Blocks (Seattle)DNAJC5
SuperfamilyQ9H3Z4
Human Protein AtlasENSG00000101152
Peptide AtlasQ9H3Z4
HPRD08539
IPIIPI00402231   IPI00023780   
Protein Interaction databases
DIP (DOE-UCLA)Q9H3Z4
IntAct (EBI)Q9H3Z4
FunCoupENSG00000101152
BioGRIDDNAJC5
STRING (EMBL)DNAJC5
ZODIACDNAJC5
Ontologies - Pathways
QuickGOQ9H3Z4
Ontology : AmiGOglycoprotein binding  mitochondrion  lysosomal membrane  cytosol  plasma membrane  plasma membrane  exocytosis  neurotransmitter secretion  synaptic vesicle  membrane  synaptic vesicle exocytosis  melanosome  ATP-dependent protein binding  terminal bouton  negative regulation of neuron apoptotic process  regulated exocytosis  clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  extracellular exosome  
Ontology : EGO-EBIglycoprotein binding  mitochondrion  lysosomal membrane  cytosol  plasma membrane  plasma membrane  exocytosis  neurotransmitter secretion  synaptic vesicle  membrane  synaptic vesicle exocytosis  melanosome  ATP-dependent protein binding  terminal bouton  negative regulation of neuron apoptotic process  regulated exocytosis  clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  extracellular exosome  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkDNAJC5
Atlas of Cancer Signalling NetworkDNAJC5
Wikipedia pathwaysDNAJC5
Orthology - Evolution
OrthoDB80331
GeneTree (enSembl)ENSG00000101152
Phylogenetic Trees/Animal Genes : TreeFamDNAJC5
HOVERGENQ9H3Z4
HOGENOMQ9H3Z4
Homologs : HomoloGeneDNAJC5
Homology/Alignments : Family Browser (UCSC)DNAJC5
Gene fusions - Rearrangements
Fusion : MitelmanDNAJC5/TPD52L2 [20q13.33/20q13.33]  
Fusion : MitelmanPCMTD2/DNAJC5 [20q13.33/20q13.33]  [t(20;20)(q13;q13)]  
Fusion : MitelmanPRPF6/DNAJC5 [20q13.33/20q13.33]  [t(20;20)(q13;q13)]  
Fusion: TCGADNAJC5 20q13.33 TPD52L2 20q13.33 OV
Fusion: TCGAPCMTD2 20q13.33 DNAJC5 20q13.33 BRCA
Fusion: TCGAPRPF6 20q13.33 DNAJC5 20q13.33 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAJC5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAJC5
dbVarDNAJC5
ClinVarDNAJC5
1000_GenomesDNAJC5 
Exome Variant ServerDNAJC5
ExAC (Exome Aggregation Consortium)DNAJC5 (select the gene name)
Genetic variants : HAPMAP80331
Genomic Variants (DGV)DNAJC5 [DGVbeta]
DECIPHER (Syndromes)20:62526455-62567384  ENSG00000101152
CONAN: Copy Number AnalysisDNAJC5 
Mutations
ICGC Data PortalDNAJC5 
TCGA Data PortalDNAJC5 
Broad Tumor PortalDNAJC5
OASIS PortalDNAJC5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAJC5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNAJC5
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch DNAJC5
DgiDB (Drug Gene Interaction Database)DNAJC5
DoCM (Curated mutations)DNAJC5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAJC5 (select a term)
intoGenDNAJC5
Cancer3DDNAJC5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611203   
Orphanet19108   
MedgenDNAJC5
Genetic Testing Registry DNAJC5
NextProtQ9H3Z4 [Medical]
TSGene80331
GENETestsDNAJC5
Huge Navigator DNAJC5 [HugePedia]
snp3D : Map Gene to Disease80331
BioCentury BCIQDNAJC5
ClinGenDNAJC5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80331
Chemical/Pharm GKB GenePA27422
Clinical trialDNAJC5
Miscellaneous
canSAR (ICR)DNAJC5 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAJC5
EVEXDNAJC5
GoPubMedDNAJC5
iHOPDNAJC5
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 : Fri Nov 18 19:35:57 CET 2016

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