Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80331
Gene name Gene Name - the full gene name approved by the HGNC.
DnaJ heat shock protein family (Hsp40) member C5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAJC5
Synonyms (NCBI Gene) Gene synonyms aliases
CLN4, CLN4B, CSP, DNAJC5A, NCL, mir-941-2, mir-941-3, mir-941-4, mir-941-5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CLN4B
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29997244
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005794 Component Golgi apparatus IDA
GO:0005829 Component Cytosol ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611203 16235 ENSG00000101152
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Neuronal ceroid lipofuscinosis Neuronal Ceroid-Lipofuscinoses, Ceroid Lipofuscinosis, Neuronal, Parry Type, Neuronal Ceroid Lipofuscinosis Type 4B, CLN4B disease rs118203975, rs118203976, rs118203977, rs267607235, rs140948465, rs1740291234, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs1555274312, rs119455953, rs119455954, rs119455955
View all (397 more)
22073189, 22235333, 21820099, 22978711, 22902780
Parkinson disease Parkinsonian Disorders rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Neuronal Ceroid Lipofuscinosis ceroid lipofuscinosis, neuronal, 4 (Kufs type), adult neuronal ceroid lipofuscinosis GenCC
Hypertension Hypertension GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
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