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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... See more...
Aliases for DNAJC6 Gene
Aliases for DNAJC6 Gene
External Ids for DNAJC6 Gene
- HGNC: 15469
- Entrez Gene: 9829
- Ensembl: ENSG00000116675
- OMIM: 608375
- UniProtKB: O75061
Previous GeneCards Identifiers for DNAJC6 Gene
- GC01P065681
- GC01P064649
- GC01P065077
- GC01P065090
- GC01P065145
- GC01P065442
- GC01P065487
- GC01P063839
- GC01P065714
Summaries 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 Endocytosis. Gene Ontology (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 Summary 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).
Additional gene information for DNAJC6 Gene
- HGNC(15469)
- Entrez Gene(9829)
- Ensembl(ENSG00000116675)
- OMIM(608375)
- UniProtKB(O75061)
- Open Targets Platform(ENSG00000116675)
- Monarch Initiative
- Search for DNAJC6 at DataMed
- Search for DNAJC6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJC6 Gene
Genomics for DNAJC6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DNAJC6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DNAJC6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJC6
- Top Transcription factor binding sites by QIAGEN in the DNAJC6 gene promoter:
-
- AML1a
- C/EBPalpha
- CHOP-10
- COMP1
- FOXJ2
- FOXJ2 (long isoform)
- HEN1
- Lhx3a
- LHX3b
Genomic Locations for DNAJC6 Gene
Genomic Locations for DNAJC6 Gene
- chr1:65,248,219-65,415,871
- (GRCh38/hg38)
- Size:
- 167,653 bases
- Orientation:
- Plus strand
- chr1:65,713,902-65,881,552
- (GRCh37/hg19)
- Size:
- 167,651 bases
- Orientation:
- Plus strand
Genomic View for DNAJC6 Gene
Genes around DNAJC6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p31.3 by HGNC
- 1p31.3 by Entrez Gene
- 1p31.3 by Ensembl
DNAJC6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for DNAJC6 Gene
Post-translational modifications for DNAJC6 Gene
Other Protein References for DNAJC6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-DNAJC6 monoclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for DNAJC6
- Novus Biologicals Antibodies for DNAJC6
-
Abcam antibodies for DNAJC6
- Invitrogen Antibodies for DNAJC6 (AFLGC-DNAJC6)
Protein Products
-
OriGene Purified Proteins for DNAJC6
- Search Origene for MassSpec and Protein Over-expression Lysates for DNAJC6
- Origene Custom Protein Services for DNAJC6
- antibodies-online: Show 4 available DNAJC6 Proteins ranked by validation data
- Compare Top DNAJC6 Proteins
-
Quality Products:
-
Abcam proteins for DNAJC6
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
Protein Domains for DNAJC6 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for DNAJC6 Gene
- GenScript: Design optimal peptide antigens:
-
- DnaJ homolog subfamily C member 6 (AUXI_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DNAJC6 Gene
Function for DNAJC6 Gene
Molecular function for DNAJC6 Gene
- 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).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48;.
Enzyme Numbers (IUBMB) for DNAJC6 Gene
Phenotypes From GWAS Catalog for DNAJC6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
| GO:0004725 | protein tyrosine phosphatase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0017124 | SH3 domain binding | IEA | -- |
| GO:0030276 | clathrin binding | IBA | 21873635 |
Phenotypes for DNAJC6 Gene
- MGI mutant phenotypes for DNAJC6:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DNAJC6:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- Increased endosome-nucleus distance (endosomes dispersed in the cell periphery)
- Increased shRNA abundance (Z-score > 2)
- Inconclusive
- Decreased shRNA abundance (Z-score < -2)
- Increased transcriptional activity
- Decreased ionizing radiation sensitivity
- Increased cell migration
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, decreased cell elongation, decreased cell spreading
Animal Models for DNAJC6 Gene
- MGI Knock Outs for DNAJC6:
-
- Dnajc6 Dnajc6<tm1Legr>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DNAJC6 - Select products 50% OFF >
- * DNAJC6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DNAJC6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAJC6
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNAJC6
miRNA for DNAJC6 Gene
- miRTarBase miRNAs that target DNAJC6
-
- mmu-miR-425-5p (MIRT008605)
- mmu-miR-223-3p (MIRT009522)
- hsa-miR-26b-5p (MIRT030253)
- hsa-let-7c-5p (MIRT051833)
- hsa-let-7a-5p (MIRT052398)
- hsa-miR-574-5p (MIRT658956)
- hsa-miR-4455 (MIRT658957)
- hsa-miR-4260 (MIRT658958)
- hsa-miR-1227-5p (MIRT658959)
- hsa-miR-3147 (MIRT658960)
- hsa-miR-4425 (MIRT658961)
- hsa-miR-6867-5p (MIRT658962)
- hsa-miR-486-3p (MIRT658963)
- hsa-miR-6721-5p (MIRT658964)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNAJC6
- Browse OriGene Inhibitory RNA Products For DNAJC6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC6
Clone Products
- Applied Biological Materials (abm): Clones for DNAJC6 - Select products 50% OFF >
- * DNAJC6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211098
- MG223188
- MG223368
- MG224463
- MR211098
- MR211098L3
- MR211098L4
- MR223188
- MR223188L3
- MR223188L4
- MR223368
- MR223368L3
- MR223368L4
- MR224463
- MR224463L3
- MR224463L4
- RC214801
- RC214801L3
- RC214801L4
- RC235005
- RC235088
- RG214801
- RG235005
- RG235088
- RR204569
- RR204569L3
- RR204569L4
- MR211098L3V
- MR211098L4V
- MR223188L3V
- MR223188L4V
- MR223368L3V
- MR223368L4V
- MR224463L3V
- MR224463L4V
- RC214801L3V
- RC214801L4V
- RR204569L3V
- RR204569L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DNAJC6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNAJC6
Cell Line Products
-
Horizon Cell Lines for DNAJC6
No data available for Transcription Factor Targets and HOMER Transcription for DNAJC6 Gene
Localization for DNAJC6 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 3 |
| nucleus | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (2)
- Nucleoplasm (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0014069 | postsynaptic density | IBA | 21873635 |
| GO:0031982 | vesicle | IBA | 21873635 |
| GO:0043231 | intracellular membrane-bounded organelle | IBA | 21873635 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for DNAJC6 Gene
Pathways & Interactions for DNAJC6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin derived vesicle budding | ||
| 2 | Vesicle-mediated transport | ||
| 3 | Endocytosis | ||
| 4 | Clathrin-mediated endocytosis | ||
Pathways by source for DNAJC6 Gene
7 Reactome pathways for DNAJC6 Gene
1 KEGG pathway for DNAJC6 Gene
Interacting Proteins for DNAJC6 Gene
Selected Interacting proteins:
O75061-AUXI_HUMAN
ENSP00000360108
for DNAJC6 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for DNAJC6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006470 | protein dephosphorylation | IEA | -- |
| GO:0006898 | receptor-mediated endocytosis | IBA | 21873635 |
| GO:0016191 | synaptic vesicle uncoating | IBA,ISS | 20160091 |
| GO:0035335 | peptidyl-tyrosine dephosphorylation | IEA | -- |
| GO:0061024 | membrane organization | TAS | -- |
Drugs & Compounds for DNAJC6 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Phosphate |
|
14066-19-4, 14265-44-2 |
|
Transcripts for DNAJC6 Gene
mRNA/cDNA for DNAJC6 Gene
- 3 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000463018 546 nts (view in UCSC)
- ENST00000494710 1621 nts (view in UCSC)
- ENST00000395325 5743 nts (view in UCSC)
- ENST00000483402 409 nts (view in UCSC)
- ENST00000371069 5962 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DNAJC6 - Select products 50% OFF >
- * DNAJC6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DNAJC6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNAJC6
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNAJC6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DNAJC6
- Browse OriGene Inhibitory RNA Products For DNAJC6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC6
Clone Products
- Applied Biological Materials (abm): Clones for DNAJC6 - Select products 50% OFF >
- * DNAJC6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211098
- MG223188
- MG223368
- MG224463
- MR211098
- MR211098L3
- MR211098L4
- MR223188
- MR223188L3
- MR223188L4
- MR223368
- MR223368L3
- MR223368L4
- MR224463
- MR224463L3
- MR224463L4
- RC214801
- RC214801L3
- RC214801L4
- RC235005
- RC235088
- RG214801
- RG235005
- RG235088
- RR204569
- RR204569L3
- RR204569L4
- MR211098L3V
- MR211098L4V
- MR223188L3V
- MR223188L4V
- MR223368L3V
- MR223368L4V
- MR224463L3V
- MR224463L4V
- RC214801L3V
- RC214801L4V
- RR204569L3V
- RR204569L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DNAJC6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNAJC6
| 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
Expression for DNAJC6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Blood (Hematopoietic System)
- Erythroblasts Hematopoietic Bone Marrow
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Gut Tube (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
- Mature Mesothelial Cells Liver Lobule
-
Adipose (Muscoskeletal System)
- Visceral White Adipocytes Visceral White Adipose
-
Trophoblast (Extraembryonic Tissues)
- Mural Trophectoderm Cells Mural Trophectoderm
- Thymus (Hematopoietic System)
- Eye (Sensory Organs)
- Neurons (Uncategorized)
-
Spinal Cord (Nervous System)
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).
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 and MOPED for DNAJC6 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJC6
SOURCE GeneReport for Unigene cluster for DNAJC6 Gene:
Hs.647643mRNA 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(4.2)
- Eye(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC6 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- eyelid
- face
- head
Limb:
- lower limb
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for DNAJC6
Gene Expression Assay Products
Orthologs for DNAJC6 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DNAJC6 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DNAJC6 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DNAJC6 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dnajc6 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Dnajc6 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | DNAJC6 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DNAJC6 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | DNAJC6 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DNAJC6 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dnajc6 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | dnajc6 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | aux 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | tag-83 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SWA2 33 33 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10856 31 |
|
OneToMany |
- Species where no ortholog for DNAJC6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 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)
- Wheat (Triticum aestivum)
Evolution for DNAJC6 Gene
- ENSEMBL:
- Gene Tree for DNAJC6 (if available)
- TreeFam:
- Gene Tree for DNAJC6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DNAJC6: view image
Paralogs for DNAJC6 Gene
Variants for DNAJC6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJC6 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641135 | Uncertain Significance: Parkinson disease 19a, juvenile-onset | 65,309,920(+) | A/G | MISSENSE_VARIANT,INTRON_VARIANT | |
| 648740 | Uncertain Significance: Parkinson disease 19a, juvenile-onset | 65,405,867(+) | T/C | INTRON_VARIANT | |
| 663145 | Uncertain Significance: Parkinson disease 19a, juvenile-onset | 65,366,050(+) | A/T | MISSENSE_VARIANT | |
| 664983 | Uncertain Significance: Parkinson disease 19a, juvenile-onset | 65,309,915(+) | G/T | MISSENSE_VARIANT,INTRON_VARIANT | |
| 702187 | Benign: Parkinson disease 19a, juvenile-onset | 65,389,382(+) | A/T | SYNONYMOUS_VARIANT |
| 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 |
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)
Additional Variant Information for DNAJC6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC6 Gene
Disorders for DNAJC6 Gene
(13) MalaCards diseases for DNAJC6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| parkinson disease 19a, juvenile-onset |
|
|
| atypical juvenile parkinsonism |
|
|
| ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
|
|
| parkinson disease 2, autosomal recessive juvenile |
|
|
| prostate cancer |
|
Search DNAJC6 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for DNAJC6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for DNAJC6 Gene
Publications for DNAJC6 Gene
- 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
- DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease. (PMID: 26528954) Olgiati S … Bonifati V (Annals of neurology 2016) 3 4
- DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. (PMID: 23211418) Köroğlu Ç … Tolun A (Parkinsonism & related disorders 2013) 3 4
- A genome-wide association study of the Protein C anticoagulant pathway. (PMID: 22216198) Athanasiadis G … Soria JM (PloS one 2011) 3 41
- Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41
ExternalLinks
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Sources for DNAJC6 Gene
- (1) GeneCards
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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