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

Identity

Alias (NCBI)CLN4
CLN4B
CSP
DNAJC5A
NCL
mir-941-2
mir-941-3
mir-941-4
mir-941-5
HGNC (Hugo) DNAJC5
HGNC Alias symbFLJ00118
FLJ13070
DNAJC5A
HGNC Previous nameCLN4
HGNC Previous nameceroid-lipofuscinosis, neuronal 4 (Kufs disease)
 DnaJ (Hsp40) homolog, subfamily C, member 5
LocusID (NCBI) 80331
Atlas_Id 46733
Location 20q13.33  [Link to chromosome band 20q13]
Location_base_pair Starts at 63895126 and ends at 63936010 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)
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    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]
Ensembl hg38 (Hinxton)ENSG00000101152 [Gene_View]  ENSG00000101152 [Sequence]  chr20:63895126-63936010 [Contig_View]  DNAJC5 [Vega]
ICGC DataPortalENSG00000101152
TCGA cBioPortalDNAJC5
AceView (NCBI)DNAJC5
Genatlas (Paris)DNAJC5
SOURCE (Princeton)DNAJC5
Genetics Home Reference (NIH)DNAJC5
Genomic and cartography
GoldenPath hg38 (UCSC)DNAJC5  -     chr20:63895126-63936010 +  20q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAJC5  -     20q13.33   [Description]    (hg19-Feb_2009)
GoldenPathDNAJC5 - 20q13.33 [CytoView hg19]  DNAJC5 - 20q13.33 [CytoView hg38]
ImmunoBaseENSG00000101152
Genome Data Viewer NCBIDNAJC5 [Mapview hg19]  
OMIM162350   611203   
Gene and transcription
Genbank (Entrez)AK023132 AK024508 AK074041 AK128776 AK289585
RefSeq transcript (Entrez)NM_025219
Consensus coding sequences : CCDS (NCBI)DNAJC5
Gene ExpressionDNAJC5 [ NCBI-GEO ]   DNAJC5 [ EBI - ARRAY_EXPRESS ]   DNAJC5 [ SEEK ]   DNAJC5 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAJC5 [ Firebrowse - Broad ]
GenevisibleExpression of DNAJC5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80331
GTEX Portal (Tissue expression)DNAJC5
Human Protein AtlasENSG00000101152-DNAJC5 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9H3Z4
Domaine pattern : Prosite (Expaxy)DNAJ_1 (PS00636)    DNAJ_2 (PS50076)   
Domains : Interpro (EBI)DnaJ_domain    DnaJ_domain_CS    J_dom_sf   
Domain families : Pfam (Sanger)DnaJ (PF00226)   
Domain families : Pfam (NCBI)pfam00226   
Domain families : Smart (EMBL)DnaJ (SM00271)  
Conserved Domain (NCBI)DNAJC5
PDB (RSDB)2N04    2N05   
PDB Europe2N04    2N05   
PDB (PDBSum)2N04    2N05   
PDB (IMB)2N04    2N05   
Structural Biology KnowledgeBase2N04    2N05   
SCOP (Structural Classification of Proteins)2N04    2N05   
CATH (Classification of proteins structures)2N04    2N05   
SuperfamilyQ9H3Z4
AlphaFold pdb e-kbQ9H3Z4   
Human Protein Atlas [tissue]ENSG00000101152-DNAJC5 [tissue]
HPRD08539
Protein Interaction databases
DIP (DOE-UCLA)Q9H3Z4
IntAct (EBI)Q9H3Z4
BioGRIDDNAJC5
STRING (EMBL)DNAJC5
ZODIACDNAJC5
Ontologies - Pathways
QuickGOQ9H3Z4
Ontology : AmiGOprotein binding  mitochondrion  lysosomal membrane  Golgi apparatus  cytosol  plasma membrane  plasma membrane  exocytosis  neurotransmitter secretion  membrane  synaptic vesicle exocytosis  anchored component of membrane  neuromuscular junction  azurophil granule membrane  specific granule membrane  melanosome  chromaffin granule membrane  ATP-dependent protein binding  intracellular membrane-bounded organelle  neutrophil degranulation  negative regulation of neuron apoptotic process  regulated exocytosis  chaperone-mediated protein folding  clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  regulation of synaptic vesicle cycle  anchored component of synaptic vesicle membrane  
Ontology : EGO-EBIprotein binding  mitochondrion  lysosomal membrane  Golgi apparatus  cytosol  plasma membrane  plasma membrane  exocytosis  neurotransmitter secretion  membrane  synaptic vesicle exocytosis  anchored component of membrane  neuromuscular junction  azurophil granule membrane  specific granule membrane  melanosome  chromaffin granule membrane  ATP-dependent protein binding  intracellular membrane-bounded organelle  neutrophil degranulation  negative regulation of neuron apoptotic process  regulated exocytosis  chaperone-mediated protein folding  clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  regulation of synaptic vesicle cycle  anchored component of synaptic vesicle membrane  
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
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]  
Fusion : MitelmanPRPF6/DNAJC5 [20q13.33/20q13.33]  
Fusion : QuiverDNAJC5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAJC5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAJC5
dbVarDNAJC5
ClinVarDNAJC5
MonarchDNAJC5
1000_GenomesDNAJC5 
Exome Variant ServerDNAJC5
GNOMAD BrowserENSG00000101152
Varsome BrowserDNAJC5
ACMGDNAJC5 variants
VarityQ9H3Z4
Genomic Variants (DGV)DNAJC5 [DGVbeta]
DECIPHERDNAJC5 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DDNAJC5
Mutations and Diseases : HGMDDNAJC5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDNAJC5
DgiDB (Drug Gene Interaction Database)DNAJC5
DoCM (Curated mutations)DNAJC5
CIViC (Clinical Interpretations of Variants in Cancer)DNAJC5
Cancer3DDNAJC5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162350    611203   
Orphanet19108   
DisGeNETDNAJC5
MedgenDNAJC5
Genetic Testing Registry DNAJC5
NextProtQ9H3Z4 [Medical]
GENETestsDNAJC5
Target ValidationDNAJC5
Huge Navigator DNAJC5 [HugePedia]
ClinGenDNAJC5
Clinical trials, drugs, therapy
MyCancerGenomeDNAJC5
Protein Interactions : CTDDNAJC5
Pharm GKB GenePA27422
PharosQ9H3Z4
Clinical trialDNAJC5
Miscellaneous
canSAR (ICR)DNAJC5
HarmonizomeDNAJC5
DataMed IndexDNAJC5
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDNAJC5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:07:04 CEST 2021

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