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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) Pathogenic rs2146308296, rs587776892, rs387907043, rs1600887859 RCV001810080
RCV000023878
RCV000023879
RCV000850191
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronal ceroid lipofuscinosis Pathogenic rs587776892 RCV000632720
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CEROID LIPOFUSCINOSIS, NEURONAL, 4 ClinVar, GenCC, HPO
ClinVar, GenCC, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, PARRY TYPE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLN4 DISEASE Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DNAJC5-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 28103300
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 30007600
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22743058, 25921135
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 28690315
★☆☆☆☆
Found in Text Mining only
Adult Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis BEFREE 14655761, 22073189, 25905915
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 26866305
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 12408229, 26512942, 33910019 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 31365788
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26021314
★☆☆☆☆
Found in Text Mining only