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 to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's d... See more...

Aliases for DNAJC5 Gene

Aliases for DNAJC5 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C5 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 5 2 3
  • Ceroid-Lipofuscinosis Neuronal Protein 4 3 4
  • DnaJ Homolog Subfamily C Member 5 3 4
  • DNAJC5A 2 3
  • CLN4 3 4
  • CSP 3 4
  • Ceroid-Lipofuscinosis, Neuronal 4 (Kufs Disease) 2
  • Cysteine String Protein Alpha 3
  • Cysteine String Protein 4
  • Mir-941-2 3
  • Mir-941-3 3
  • Mir-941-4 3
  • Mir-941-5 3
  • FLJ00118 2
  • FLJ13070 2
  • DNAJC5 5
  • CLN4B 3
  • NCL 3

External Ids for DNAJC5 Gene

Previous HGNC Symbols for DNAJC5 Gene

  • CLN4

Previous GeneCards Identifiers for DNAJC5 Gene

  • GC20P062404
  • GC20P063238
  • GC20P063252
  • GC20P063277
  • GC20P061996
  • GC20P062526
  • GC20P059293

Summaries for DNAJC5 Gene

Entrez Gene Summary for DNAJC5 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 to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]

GeneCards Summary for DNAJC5 Gene

DNAJC5 (DnaJ Heat Shock Protein Family (Hsp40) Member C5) is a Protein Coding gene. Diseases associated with DNAJC5 include Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant and Adult Neuronal Ceroid Lipofuscinosis. Among its related pathways are Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) and Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include ATP-dependent protein binding. An important paralog of this gene is DNAJC5B.

UniProtKB/Swiss-Prot Summary for DNAJC5 Gene

  • 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 important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity).

Gene Wiki entry for DNAJC5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJC5 Gene

Genomics for DNAJC5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNAJC5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J063893 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 252.4 +1.4 1423 5.1 SP1 NCOR1 IKZF1 ZNF600 ZNF10 BRCA1 POLR2A ZIC2 YY1 MXD4 DNAJC5 lnc-DNAJC5-1 RGS19 OPRL1 ZBTB46 C20orf181 FNDC11 SRMS ZBTB46-AS1 ENSG00000229299
GH20J063863 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 262 -30.0 -29982 4.1 BCLAF1 SP1 ZNF654 ZNF207 ZNF600 MYC IKZF1 SSRP1 ZNF580 ZNF592 DNAJC5 LOC112268269 TPD52L2 NONHSAG032313.2 DIDO1 PRPF6 GMEB2 RTEL1 UCKL1 CICP4
GH20J063872 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 262.6 -21.3 -21337 2.2 CTCF CEBPB MAFF ZNF316 RBM22 FOSL2 GABPA MAFK MYC MAX DNAJC5 RF00017-3302 C20orf181 MIR647 UCKL1 ZBTB46 ZBTB46-AS1 RNU1-134P FNDC11 SRMS
GH20J063882 Promoter/Enhancer 0.9 EPDnew Ensembl dbSUPER 250.4 -12.0 -12025 1 EGR2 TAF1 RBFOX2 ZFHX2 DNAJC5 MIR941-2 MIR941-4 RNU1-134P ENSG00000229299 ZBTB46-AS1 ZNF512B PRPF6 SAMD10 ZBTB46
GH20J063911 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.4 +13.8 13810 0.1 RF00003-044 RNU1-134P DNAJC5 lnc-DNAJC5-1 UCKL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJC5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJC5

Top Transcription factor binding sites by QIAGEN in the DNAJC5 gene promoter:
  • FOXD3
  • p53
  • Pax-2
  • Pax-2a
  • Pax-2b
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • POU6F1 (c2)
  • SEF-1 (1)

Genomic Locations for DNAJC5 Gene

Latest Assembly
chr20:63,895,126-63,936,031
(GRCh38/hg38)
Size:
40,906 bases
Orientation:
Plus strand

Previous Assembly
chr20:62,526,479-62,567,364
(GRCh37/hg19 by Entrez Gene)
Size:
40,886 bases
Orientation:
Plus strand

chr20:62,526,518-62,567,384
(GRCh37/hg19 by Ensembl)
Size:
40,867 bases
Orientation:
Plus strand

Genomic View for DNAJC5 Gene

Genes around DNAJC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC5 Gene

Proteins for DNAJC5 Gene

  • Protein details for DNAJC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3Z4-DNJC5_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 5
    Protein Accession:
    Q9H3Z4
    Secondary Accessions:
    • A8K0M0
    • B3KY68
    • E1P5G8
    • Q9H3Z5
    • Q9H7H2

    Protein attributes for DNAJC5 Gene

    Size:
    198 amino acids
    Molecular mass:
    22149 Da
    Quaternary structure:
    • Oligomers (PubMed:27452402). Homodimer (By similarity). Interacts with the chaperone complex consisting of HSC70 and SGTA (By similarity). Interacts with ZDHHC13 (via ANK repeats) (By similarity). Interacts with ZDHHC17 (via ANK repeats) (PubMed:28882895). Interacts with SYT1, SYT5 and SYT7, and with SYT9, forming a complex with SNAP25 (By similarity).
    Miscellaneous:
    • Upon phosphorylation, Ser-10 interacts with Lys-58, a highly conserved residue in DnaJ proteins that is also a ubiquitination site in DNAJC5.

    Three dimensional structures from OCA and Proteopedia for DNAJC5 Gene

    Alternative splice isoforms for DNAJC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJC5 Gene

Post-translational modifications for DNAJC5 Gene

  • Ser-10 phosphorylation induces an order-to-disorder transition triggering the interaction with Lys-58 (PubMed:27452402). This conformational switch modulates DNAJC5's cellular functions by reducing binding to syntaxin and synaptogamin without altering HSC70 interactions (PubMed:27452402).
  • Palmitoylated. Could be palmitoylated by DHHC3, DHHC7, DHHC15 and DHHC17. Palmitoylation occurs probably in the cysteine-rich domain and regulates DNAJC5 membrane attachment.
  • Ubiquitination at Lys58
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAJC5 Gene

No data available for DME Specific Peptides for DNAJC5 Gene

Domains & Families for DNAJC5 Gene

Gene Families for DNAJC5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for DNAJC5 Gene

Suggested Antigen Peptide Sequences for DNAJC5 Gene

GenScript: Design optimal peptide antigens:
  • Cysteine string protein (DNJC5_HUMAN)
genes like me logo Genes that share domains with DNAJC5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DNAJC5 Gene

Function for DNAJC5 Gene

Molecular function for DNAJC5 Gene

UniProtKB/Swiss-Prot 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 important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity).

Phenotypes From GWAS Catalog for DNAJC5 Gene

Gene Ontology (GO) - Molecular Function for DNAJC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29997244
GO:0043008 ATP-dependent protein binding IEA --
genes like me logo Genes that share ontologies with DNAJC5: view
genes like me logo Genes that share phenotypes with DNAJC5: view

Human Phenotype Ontology for DNAJC5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAJC5 Gene

MGI Knock Outs for DNAJC5:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DNAJC5 Gene

Localization for DNAJC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC5 Gene

Cytoplasm, cytosol. Membrane. Lipid-anchor. Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane. Melanosome. Cell membrane. Note=The association with membranes is regulated by palmitoylation (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). {ECO:0000250 UniProtKB:Q29455, ECO:0000269 PubMed:17081065}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJC5 gene
Compartment Confidence
plasma membrane 5
cytosol 5
mitochondrion 4
lysosome 4
cytoskeleton 3
golgi apparatus 3
extracellular 2
nucleus 2
endoplasmic reticulum 2
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAJC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion HDA 20833797
GO:0005765 lysosomal membrane HDA 17897319
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with DNAJC5: view

Pathways & Interactions for DNAJC5 Gene

genes like me logo Genes that share pathways with DNAJC5: view

Pathways by source for DNAJC5 Gene

3 GeneGo (Thomson Reuters) pathways for DNAJC5 Gene
  • Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
  • Regulation of degradation of deltaF508 CFTR in CF
  • Regulation of degradation of wt-CFTR

SIGNOR curated interactions for DNAJC5 Gene

Other effect:

Gene Ontology (GO) - Biological Process for DNAJC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis NAS 10099709
GO:0007269 neurotransmitter secretion TAS --
GO:0016079 synaptic vesicle exocytosis TAS 10099709
GO:0043312 neutrophil degranulation TAS --
GO:0043524 negative regulation of neuron apoptotic process IEA --
genes like me logo Genes that share ontologies with DNAJC5: view

Drugs & Compounds for DNAJC5 Gene

(2) Drugs for DNAJC5 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959

(3) Additional Compounds for DNAJC5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DNAJC5: view

Transcripts for DNAJC5 Gene

mRNA/cDNA for DNAJC5 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC5

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:

Relevant External Links for DNAJC5 Gene

GeneLoc Exon Structure for
DNAJC5

Expression for DNAJC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAJC5 Gene

Protein differential expression in normal tissues from HIPED for DNAJC5 Gene

This gene is overexpressed in Brain (22.7) and Frontal cortex (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNAJC5 Gene



Protein tissue co-expression partners for DNAJC5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJC5

SOURCE GeneReport for Unigene cluster for DNAJC5 Gene:

Hs.164419

mRNA Expression by UniProt/SwissProt for DNAJC5 Gene:

Q9H3Z4-DNJC5_HUMAN
Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.

Evidence on tissue expression from TISSUES for DNAJC5 Gene

  • Nervous system(5)
  • Blood(4.4)
  • Liver(4.4)
  • Spleen(4.4)
  • Lung(3.2)
  • Eye(3)
  • Intestine(2.7)
  • Skin(2.6)
  • Muscle(2.4)
  • Heart(2.3)
  • Adrenal gland(2.3)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DNAJC5: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DNAJC5 Gene

Orthologs for DNAJC5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAJC5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DNAJC5 29 30
  • 99.33 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC5 30
  • 95 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DNAJC5 30
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia DNAJC5 29 30
  • 90.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DNAJC5 29 30
  • 90.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dnajc5 29 16 30
  • 88.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dnajc5 29
  • 88.05 (n)
Chicken
(Gallus gallus)
Aves DNAJC5 29 30
  • 80.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DNAJC5 30
  • 95 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii dnajc5ab 30
  • 77 (a)
OneToMany
dnajc5aa 29 30
  • 76.07 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Csp 29 30 31
  • 67.92 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007620 29
  • 62.75 (n)
Worm
(Caenorhabditis elegans)
Secernentea dnj-14 30
  • 39 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIS1 30
  • 15 (a)
OneToMany
CWC23 32
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8441 30
  • 49 (a)
OneToMany
Species where no ortholog for DNAJC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for DNAJC5 Gene

ENSEMBL:
Gene Tree for DNAJC5 (if available)
TreeFam:
Gene Tree for DNAJC5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAJC5: view image
Alliance of Genome Resources:
Additional Orthologs for DNAJC5

Paralogs for DNAJC5 Gene

(5) SIMAP similar genes for DNAJC5 Gene using alignment to 1 proteins:

  • DNJC5_HUMAN

Pseudogenes.org Pseudogenes for DNAJC5 Gene

genes like me logo Genes that share paralogs with DNAJC5: view

Variants for DNAJC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJC5 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1003409 Uncertain Significance: Neuronal ceroid lipofuscinosis 63,928,425(+) C/T
NM_025219.3(DNAJC5):c.80C>T (p.Thr27Ile)
MISSENSE
1017049 Uncertain Significance: Neuronal ceroid lipofuscinosis 63,929,345(+) C/A
NM_025219.3(DNAJC5):c.141C>A (p.Asn47Lys)
MISSENSE
1026410 Uncertain Significance: Neuronal ceroid lipofuscinosis 63,928,431(+) A/G
NM_025219.3(DNAJC5):c.86A>G (p.Asp29Gly)
MISSENSE
1034904 Uncertain Significance: Neuronal ceroid lipofuscinosis 63,931,017(+) A/G
NM_025219.3(DNAJC5):c.488A>G (p.Glu163Gly)
MISSENSE
1042770 Uncertain Significance: Neuronal ceroid lipofuscinosis 63,929,430(+) T/C
NM_025219.3(DNAJC5):c.226T>C (p.Tyr76His)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNAJC5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DNAJC5 Gene

Variant ID Type Subtype PubMed ID
esv3646330 CNV loss 21293372
nsv1136335 CNV deletion 24896259
nsv428381 CNV gain+loss 18775914
nsv469773 CNV gain 16826518
nsv509784 CNV insertion 20534489
nsv586695 CNV loss 21841781
nsv828805 CNV loss 20364138
nsv9829 CNV gain 18304495

Variation tolerance for DNAJC5 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJC5 Gene

Human Gene Mutation Database (HGMD)
DNAJC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC5
Leiden Open Variation Database (LOVD)
DNAJC5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC5 Gene

Disorders for DNAJC5 Gene

MalaCards: The human disease database

(30) MalaCards diseases for DNAJC5 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 4b, autosomal dominant
  • cln4b
adult neuronal ceroid lipofuscinosis
  • adult ncl
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
cystic fibrosis
  • cf
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DNJC5_HUMAN
  • Ceroid lipofuscinosis, neuronal, 4B (CLN4B) [MIM:162350]: An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms. {ECO:0000269 PubMed:21820099, ECO:0000269 PubMed:22073189, ECO:0000269 PubMed:22235333, ECO:0000269 PubMed:22902780, ECO:0000269 PubMed:22978711}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DNAJC5

genes like me logo Genes that share disorders with DNAJC5: view

No data available for Genatlas for DNAJC5 Gene

Publications for DNAJC5 Gene

  1. Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. (PMID: 22978711) Cadieux-Dion M … Cossette P (Clinical genetics 2013) 3 4 72
  2. Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. (PMID: 22902780) Greaves J … Chamberlain LH (The Journal of biological chemistry 2012) 3 4 72
  3. Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. (PMID: 22235333) Velinov M … Züchner S (PloS one 2012) 3 4 72
  4. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. (PMID: 21820099) Nosková L … Kmoch S (American journal of human genetics 2011) 3 4 72
  5. Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. (PMID: 22073189) Benitez BA … Cruchaga C (PloS one 2011) 3 4 72

Products for DNAJC5 Gene

Sources for DNAJC5 Gene