Gene Gene information from NCBI Gene database.
Entrez ID 80331
Gene name DnaJ heat shock protein family (Hsp40) member C5
Gene symbol DNAJC5
Synonyms (NCBI Gene)
CLN4CLN4BCSPDNAJC5ANCLmir-941-2mir-941-3mir-941-4mir-941-5
Chromosome 20
Chromosome location 20q13.33
Summary This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs144915847 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, non coding transcript variant
rs151265913 G>A,T Conflicting-interpretations-of-pathogenicity, likely-benign, benign Coding sequence variant, non coding transcript variant, synonymous variant
rs189308547 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, synonymous variant
rs387907043 T>A,G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs587776892 CTC>- Pathogenic Coding sequence variant, non coding transcript variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
1040
miRTarBase ID miRNA Experiments Reference
MIRT025831 hsa-miR-7-5p Microarray 19073608
MIRT049882 hsa-miR-31-5p CLASH 23622248
MIRT047388 hsa-miR-34a-5p CLASH 23622248
MIRT046449 hsa-miR-15b-5p CLASH 23622248
MIRT046280 hsa-miR-23b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29997244, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611203 16235 ENSG00000101152
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3Z4
Protein name DnaJ homolog subfamily C member 5 (Ceroid-lipofuscinosis neuronal protein 4) (Cysteine string protein) (CSP)
Protein function Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an import
PDB 2N04 , 2N05
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00226 DnaJ 15 77 DnaJ domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart. {ECO:0000269|PubMed:8764987}.
Sequence
MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHPDKNPDNPEAADKFKEI
NNAHAILTDATKRNIYD
KYGSLGLYVAEQFGEENVNTYFVLSSWWAKALFVFCGLLTCCY
CCCCLCCCFNCCCGKCKPKAPEGEETEFYVSPEDLEAQLQSDEREATDTPIVIQPASATE
TTQLTADSHPSYHTDGFN
Sequence length 198
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   Neutrophil degranulation
GABA synthesis, release, reuptake and degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
571
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) Pathogenic rs2146308296, rs587776892, rs387907043, rs1600887859 RCV001810080
RCV000023878
RCV000023879
RCV000850191
Neuronal ceroid lipofuscinosis Pathogenic rs587776892 RCV000632720
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DNAJC5-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs140948457, rs749077830, rs376694698, rs568985915, rs753956759 RCV003927736
RCV004758689
RCV004758708
RCV004758712
RCV004758776
Lung cancer Uncertain significance rs773607766 RCV005899434
Neuronal Ceroid-Lipofuscinosis, Recessive Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs78457562, rs113987077, rs144141585, rs181906972, rs372843187, rs541118679, rs140948457, rs531246320, rs746222594, rs772254851, rs886056935, rs886056941, rs75130625, rs150670642, rs370539010
View all (92 more)
RCV000325825
RCV000270799
RCV000399187
RCV000300399
RCV000355205
RCV000265199
RCV000360851
RCV000312433
RCV000385002
RCV000290863
RCV000331893
RCV000358442
RCV000363495
RCV000268909
RCV000317161
RCV000371743
RCV000342936
RCV000373959
RCV000291836
RCV000406202
RCV000353528
RCV000359613
RCV000379265
RCV000383243
RCV000293581
RCV000388822
RCV000294684
RCV000302031
RCV000397074
RCV000307947
RCV000271523
RCV000274854
RCV000373885
RCV000404381
RCV000383671
RCV000291694
RCV000396702
RCV000396704
RCV000313503
RCV000303681
RCV000388911
RCV000281901
RCV000337137
RCV000347754
RCV000394715
RCV000312507
RCV000277180
RCV000313583
RCV000354272
RCV000265117
RCV000381617
RCV000346809
RCV000298628
RCV000348243
RCV000332327
RCV000278391
RCV000285316
RCV000394588
RCV000344316
RCV000354231
RCV000320350
RCV000386302
RCV000296741
RCV000351175
RCV000338485
RCV000395846
RCV000395843
RCV000329678
RCV000405373
RCV000283275
RCV000306881
RCV000367114
RCV000379614
RCV000345732
RCV000311940
RCV000263796
RCV000324654
RCV000268840
RCV000335576
RCV000281977
RCV000367188
RCV000389099
RCV000316977
RCV000339194
RCV000342614
RCV000379997
RCV000340664
RCV000283351
RCV000348548
RCV000390559
RCV000278712
RCV000304148
RCV000328642
RCV000364462
RCV000274550
RCV000294892
RCV000394429
RCV000259357
RCV000319348
RCV000320296
RCV000285257
RCV000352876
RCV000396683
RCV000300201
RCV000264941
RCV000328556
RCV000402625
RCV000336919
RCV000397071
RCV000361399
RCV000328859
RCV000281799
Ovarian serous cystadenocarcinoma Uncertain significance rs1322303376 RCV005901611
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 12408229
Brain Diseases Metabolic Associate 12408229
Carcinoma Hepatocellular Associate 33662413
Central Nervous System Diseases Associate 36430274
Cerebral Intraventricular Hemorrhage Associate 36430274
Colorectal Neoplasms Associate 22678765
Extranodal Extension Associate 21820099
Fetal Growth Retardation Associate 36430274
Multiple Myeloma Associate 31948430
Myasthenic Syndromes Congenital Associate 21820099