Gene Gene information from NCBI Gene database.
Entrez ID 9829
Gene name DnaJ heat shock protein family (Hsp40) member C6
Gene symbol DNAJC6
Synonyms (NCBI Gene)
DJC6PARK19
Chromosome 1
Chromosome location 1p31.3
Summary 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
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs398122404 A>G Pathogenic Splice acceptor variant
rs398122405 C>T Pathogenic Coding sequence variant, stop gained
rs864622011 C>T Pathogenic, uncertain-significance Coding sequence variant, stop gained
rs879255554 A>T Pathogenic Coding sequence variant, synonymous variant
rs879255630 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
139
miRTarBase ID miRNA Experiments Reference
MIRT030253 hsa-miR-26b-5p Microarray 19088304
MIRT052398 hsa-let-7a-5p CLASH 23622248
MIRT051833 hsa-let-7c-5p CLASH 23622248
MIRT658964 hsa-miR-6721-5p HITS-CLIP 23824327
MIRT658963 hsa-miR-486-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IEA
GO:0005515 Function Protein binding IPI 29735704
GO:0005737 Component Cytoplasm IBA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608375 15469 ENSG00000116675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75061
Protein name Auxilin (EC 3.1.3.-) (DnaJ homolog subfamily C member 6)
Protein function May act as a protein phosphatase and/or a lipid phosphatase. Co-chaperone that recruits HSPA8/HSC70 to clathrin-coated vesicles (CCVs) and promotes the ATP-dependent dissociation of clathrin from CCVs and participates in clathrin-mediated endocy
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10409 PTEN_C2 226 365 C2 domain of PTEN tumour-suppressor protein Domain
PF00226 DnaJ 852 913 DnaJ domain Domain
Tissue specificity 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 tissu
Sequence
MKDSENKGASSPDMEPSYGGGLFDMVKGGAGRLFSNLKDNLKDTLKDTSSRVIQSVTSYT
KGDLDFTYVTSRIIVMSFPLDNVDIGFRNQVDDIRSFLDSRHLDHYTVYNLSPKSYRTAK
FHSRVSECSWPIRQAPSLHNLFAVCRNMYNWLLQNPKNVCVVHCLDGRAASSILVGAMFI
FCNLYSTPGPAIRLLYAKRPGIGLSPSHRRYLGYMCDLLADKPYRPHFKPLTIKSITVSP
IPFFNKQRNGCRPYCDVLIGETKIYSTCTDFERMKEYRVQDGKIFIPLNITVQGDVVVSM
YHLRSTIGSRLQAKVTNTQIFQLQFHTGFIPLDTTVLKFTKPELDACDVPEKYPQLFQVT
LDVEL
QPHDKVIDLTPPWEHYCTKDVNPSILFSSHQEHQDTLALGGQAPIDIPPDNPRHY
GQSGFFASLCWQDQKSEKSFCEEDHAALVNQESEQSDDELLTLSSPHGNANGDKPHGVKK
PSKKQQEPAAPPPPEDVDLLGLEGSAMSNSFSPPAAPPTNSELLSDLFGGGGAAGPTQAG
QSGVEDVFHPSGPASTQSTPRRSATSTSASPTLRVGEGATFDPFGAPSKPSGQDLLGSFL
NTSSASSDPFLQPTRSPSPTVHASSTPAVNIQPDVSGGWDWHAKPGGFGMGSKSAATSPT
GSSHGTPTHQSKPQTLDPFADLGTLGSSSFASKPTTPTGLGGGFPPLSSPQKASPQPMGG
GWQQGGAYNWQQPQPKPQPSMPHSSPQNRPNYNVSFSAMPGGQNERGKGSSNLEGKQKAA
DFEDLLSGQGFNAHKDKKGPRTIAEMRKEEMAKEMDPEKLKILEWIEGKERNIRALLSTM
HTVLWAGETKWKPVGMADLVTPEQVKKVYRKAVLVVHPDKATGQPYEQYAKMIFMELNDA
WSEFENQGQKPLY
Sequence length 913
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
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
Juvenile onset Parkinson disease 19A Pathogenic; Likely pathogenic rs2101635447, rs1645848679, rs1219237924, rs2525233935, rs864622011, rs879255630, rs886039854, rs2525354474, rs398122404, rs398122405, rs1645867120 RCV001993208
RCV001915434
RCV002221918
RCV003028242
RCV000801660
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Pathogenic rs398122404 RCV001030777
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson disease 19B, early-onset Pathogenic rs879255630 RCV000239521
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer Pathogenic rs864622011 RCV000204926
★★★★☆
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
ATYPICAL JUVENILE PARKINSONISM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THROMBOCYTOPENIC PURPURA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer not provided 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
Abnormal male sexual function Abnormal Male Sexual Function HPO_DG
★☆☆☆☆
Found in Text Mining only
Akinesia Akinesia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34948429 Associate
★☆☆☆☆
Found in Text Mining only
Anarthria speech disorder Anarthria Speech Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Atypical juvenile parkinsonism Parkinsonian disease ORPHANET_DG 22563501, 23211418
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical juvenile parkinsonism Parkinsonian disease Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain atrophy Brain atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34312475 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 30373961 Associate
★☆☆☆☆
Found in Text Mining only