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Aliases for DNAJC6 Gene

Aliases for DNAJC6 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C6 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 6 2 3
  • Auxilin 2 3
  • Putative Tyrosine-Protein Phosphatase Auxilin 3
  • DnaJ (Hsp40) Homolog, Subfamily B, Member 6 3
  • DnaJ Homolog Subfamily C Member 6 4
  • EC 3.1.3.48 4
  • KIAA0473 4
  • PARK19 3
  • DJC6 3

External Ids for DNAJC6 Gene

Previous GeneCards Identifiers for DNAJC6 Gene

  • GC01P065681
  • GC01P064649
  • GC01P065077
  • GC01P065090
  • GC01P065145
  • GC01P065442
  • GC01P065487
  • GC01P063839
  • GC01P065714

Summaries for DNAJC6 Gene

Entrez Gene Summary for DNAJC6 Gene

  • DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DNAJC6 Gene

DNAJC6 (DnaJ Heat Shock Protein Family (Hsp40) Member C6) is a Protein Coding gene. Diseases associated with DNAJC6 include Parkinson Disease 19A, Juvenile-Onset and Atypical Juvenile Parkinsonism. Among its related pathways are Clathrin derived vesicle budding and Clathrin-mediated endocytosis. GO annotations related to this gene include phosphatase activity and protein tyrosine phosphatase activity. An important paralog of this gene is GAK.

UniProtKB/Swiss-Prot for DNAJC6 Gene

  • Recruits HSPA8/HSC70 to clathrin-coated vesicles and promotes uncoating of clathrin-coated vesicles. Plays a role in clathrin-mediated endocytosis in neurons (By similarity).

Gene Wiki entry for DNAJC6 Gene

Additional gene information for DNAJC6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC6 Gene

Genomics for DNAJC6 Gene

Regulatory Elements for DNAJC6 Gene

Enhancers for DNAJC6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H065277 1.4 Ensembl ENCODE dbSUPER 21.2 +30.0 29968 1 HDAC1 HDGF ATF1 TBL1XR1 CHAMP1 TCF12 GATA2 ETV6 CREM ZBTB2 DNAJC6 GC01M065252 COX6CP13
GH01H065308 1.7 FANTOM5 ENCODE dbSUPER 14.5 +61.5 61546 1 ZFP64 ARID4B SIN3A ZNF2 SLC30A9 ZNF766 ZNF143 SP3 MXD4 REST DNAJC6 LINC01359 PDE4B LOC102724416 GC01M065311
GH01H065265 1.5 FANTOM5 ENCODE dbSUPER 11.8 +17.9 17871 1 PKNOX1 ARID4B KLF17 DMAP1 RAD21 ZNF2 CHAMP1 GLIS2 EGR2 SP3 LINC01359 DNAJC6 ENSG00000272506 RNU2-15P LEPROT LEPR GC01M065252 COX6CP13
GH01H065273 0.7 dbSUPER 21.2 +25.2 25177 0 BCOR SMARCE1 MAFG DPF2 ZNF592 CC2D1A ZNF316 SMARCA4 ADNP NFE2 DNAJC6 GC01M065252 COX6CP13
GH01H065215 1.1 Ensembl ENCODE 12.4 -32.5 -32489 0 HDAC1 CTCF TBL1XR1 ARNT ETV1 ZNF2 RAD21 CHAMP1 CC2D1A ZNF316 AK4 DNAJC6 MIR101-1 LEPR LEPROT RNU2-15P GC01M065201 GC01P065229
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAJC6 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAJC6 Gene

Chromosome:
1
Start:
65,248,148 bp from pter
End:
65,415,869 bp from pter
Size:
167,722 bases
Orientation:
Plus strand

Genomic View for DNAJC6 Gene

Genes around DNAJC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC6 Gene

Proteins for DNAJC6 Gene

  • Protein details for DNAJC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75061-AUXI_HUMAN
    Recommended name:
    Putative tyrosine-protein phosphatase auxilin
    Protein Accession:
    O75061
    Secondary Accessions:
    • B7Z3V8
    • D3DQ65
    • D3DQ66
    • Q32M66
    • Q4G0K1
    • Q5T614
    • Q5T615

    Protein attributes for DNAJC6 Gene

    Size:
    913 amino acids
    Molecular mass:
    99997 Da
    Quaternary structure:
    • Interacts with HSPA8/HSC70. Interacts with CLTC. Interacts with AP2A2 (By similarity).
    SequenceCaution:
    • Sequence=BAA32318.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAJC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJC6 Gene

Post-translational modifications for DNAJC6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAJC6 Gene

No data available for DME Specific Peptides for DNAJC6 Gene

Domains & Families for DNAJC6 Gene

Gene Families for DNAJC6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DNAJC6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNAJC6: view

No data available for UniProtKB/Swiss-Prot for DNAJC6 Gene

Function for DNAJC6 Gene

Molecular function for DNAJC6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Recruits HSPA8/HSC70 to clathrin-coated vesicles and promotes uncoating of clathrin-coated vesicles. Plays a role in clathrin-mediated endocytosis in neurons (By similarity).

Enzyme Numbers (IUBMB) for DNAJC6 Gene

Phenotypes From GWAS Catalog for DNAJC6 Gene

Gene Ontology (GO) - Molecular Function for DNAJC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with DNAJC6: view
genes like me logo Genes that share phenotypes with DNAJC6: view

Human Phenotype Ontology for DNAJC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAJC6 Gene

MGI Knock Outs for DNAJC6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAJC6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for DNAJC6 Gene

Localization for DNAJC6 Gene

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 DNAJC6 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 3
mitochondrion 1
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAJC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0014069 postsynaptic density IEA --
GO:0031982 vesicle IBA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with DNAJC6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DNAJC6 Gene

Pathways & Interactions for DNAJC6 Gene

genes like me logo Genes that share pathways with DNAJC6: view

Pathways by source for DNAJC6 Gene

Gene Ontology (GO) - Biological Process for DNAJC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0006898 receptor-mediated endocytosis IBA --
GO:0016191 synaptic vesicle uncoating ISS 20160091
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with DNAJC6: view

No data available for SIGNOR curated interactions for DNAJC6 Gene

Drugs & Compounds for DNAJC6 Gene

(2) Drugs for DNAJC6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(1) Additional Compounds for DNAJC6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with DNAJC6: view

Transcripts for DNAJC6 Gene

Unigene Clusters for DNAJC6 Gene

DnaJ (Hsp40) homolog, subfamily C, member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAJC6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^
SP1: - - - -
SP2: - - -
SP3: -
SP4: - - - - - - - - - - -
SP5:
SP6:
SP7:

ExUns: 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4: - - -
SP5:
SP6:
SP7:

Relevant External Links for DNAJC6 Gene

GeneLoc Exon Structure for
DNAJC6
ECgene alternative splicing isoforms for
DNAJC6

Expression for DNAJC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAJC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAJC6 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.7), Brain - Anterior cingulate cortex (BA24) (x5.6), Brain - Substantia nigra (x4.6), Brain - Hypothalamus (x4.5), Brain - Spinal cord (cervical c-1) (x4.3), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for DNAJC6 Gene

This gene is overexpressed in Frontal cortex (30.9), Brain (19.0), and Fetal Brain (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAJC6 Gene



Protein tissue co-expression partners for DNAJC6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAJC6 Gene:

DNAJC6

SOURCE GeneReport for Unigene cluster for DNAJC6 Gene:

Hs.647643

mRNA Expression by UniProt/SwissProt for DNAJC6 Gene:

O75061-AUXI_HUMAN
Tissue specificity: Expressed in various brain regions, including cerebellum, corpus callosum, cortex, striatum, brainstem, pons, putamen, spinal cord and substantia nigra. Very low expression in non-neural tissues such as leukocytes, liver, adipose tissue, skeletal muscle and bone marrow.

Evidence on tissue expression from TISSUES for DNAJC6 Gene

  • Nervous system(5)
  • Liver(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with DNAJC6: view

Primer Products

Orthologs for DNAJC6 Gene

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

Orthologs for DNAJC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJC6 33 34
  • 99.28 (n)
cow
(Bos Taurus)
Mammalia DNAJC6 33 34
  • 92.2 (n)
dog
(Canis familiaris)
Mammalia DNAJC6 33 34
  • 91.99 (n)
rat
(Rattus norvegicus)
Mammalia Dnajc6 33
  • 87.65 (n)
mouse
(Mus musculus)
Mammalia Dnajc6 33 16 34
  • 87.57 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAJC6 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC6 34
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJC6 33 34
  • 74.12 (n)
lizard
(Anolis carolinensis)
Reptilia DNAJC6 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc6 33
  • 69.98 (n)
zebrafish
(Danio rerio)
Actinopterygii dnajc6 33 34
  • 65.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta aux 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-83 34
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWA2 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10856 34
  • 25 (a)
OneToMany
Species where no ortholog for DNAJC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for DNAJC6 Gene

ENSEMBL:
Gene Tree for DNAJC6 (if available)
TreeFam:
Gene Tree for DNAJC6 (if available)

Paralogs for DNAJC6 Gene

Paralogs for DNAJC6 Gene

(1) SIMAP similar genes for DNAJC6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DNAJC6: view

Variants for DNAJC6 Gene

Sequence variations from dbSNP and Humsavar for DNAJC6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs879255630 Pathogenic, Parkinson disease 19B, early-onset (PARK19B) [MIM:615528] 65,411,394(+) TGTAC(A/G)GGAAG reference, missense
rs398122404 Pathogenic 65,385,710(+) GTTTC(A/G)GATAC splice-acceptor-variant
rs398122405 Pathogenic 65,406,052(+) CTCCC(C/T)AGAAC reference, stop-gained
rs879255554 Pathogenic 65,401,876(+) GGGAC(A/T)CTAGG reference, synonymous-codon
rs886039854 Pathogenic 65,408,685(+) CTGGT(C/G/T)AAGGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DNAJC6 Gene

Variant ID Type Subtype PubMed ID
dgv174n100 CNV gain 25217958
dgv44e212 CNV loss 25503493
esv2676423 CNV deletion 23128226
esv2749207 CNV deletion 23290073
esv3586278 CNV loss 21293372
esv3586279 CNV loss 21293372
esv3586280 CNV loss 21293372
esv3586281 CNV loss 21293372
esv3586282 CNV gain 21293372
nsv472107 CNV novel sequence insertion 20440878
nsv528808 CNV gain 19592680
nsv546438 CNV gain 21841781
nsv830070 CNV gain 17160897
nsv997944 CNV gain 25217958

Variation tolerance for DNAJC6 Gene

Residual Variation Intolerance Score: 4.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAJC6 Gene

Human Gene Mutation Database (HGMD)
DNAJC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC6 Gene

Disorders for DNAJC6 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DNAJC6 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 19a, juvenile-onset
  • parkinson disease 19b, early-onset
atypical juvenile parkinsonism
parkinson disease, juvenile, type 2
  • autosomal recessive juvenile parkinson disease 2
dnajc6-related parkinson disease
  • parkinson disease 19, juvenile-onset
juvenile-onset parkinson disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AUXI_HUMAN
  • Parkinson disease 19A, juvenile-onset (PARK19A) [MIM:615528]: A juvenile form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19A is characterized by onset of parkinsonian symptoms in the first or second decade of life. Some patients may have additional neurologic features, including mental retardation and seizures. {ECO:0000269 PubMed:22563501, ECO:0000269 PubMed:23211418, ECO:0000269 PubMed:26703368}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Parkinson disease 19B, early-onset (PARK19B) [MIM:615528]: An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19B is characterized by symptoms onset in the third-to-fifth decade, slow disease progression, and prominent. response to dopaminergic therapies. Inheritance is autosomal recessive. {ECO:0000269 PubMed:26528954}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAJC6

Genetic Association Database (GAD)
DNAJC6
Human Genome Epidemiology (HuGE) Navigator
DNAJC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAJC6
genes like me logo Genes that share disorders with DNAJC6: view

No data available for Genatlas for DNAJC6 Gene

Publications for DNAJC6 Gene

  1. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. (PMID: 22563501) Edvardson S … Elpeleg O (PloS one 2012) 2 3 4 60
  2. DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease. (PMID: 26528954) Olgiati S … Bonifati V (Annals of neurology 2016) 3 4 60
  3. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. (PMID: 23211418) Köroğlu Ç … Tolun A (Parkinsonism & related disorders 2013) 3 4 60
  4. A genome-wide association study of the Protein C anticoagulant pathway. (PMID: 22216198) Athanasiadis G … Soria JM (PloS one 2011) 3 45 60
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 45 60

Products for DNAJC6 Gene

Sources for DNAJC6 Gene

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