Gene Gene information from NCBI Gene database.
Entrez ID 5611
Gene name DnaJ heat shock protein family (Hsp40) member C3
Gene symbol DNAJC3
Synonyms (NCBI Gene)
ACPHDERdj6HP58P58P58IPKPRKRIp58(IPK)
Chromosome 13
Chromosome location 13q32.1
Summary This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs727502865 C>T Uncertain-significance, pathogenic Stop gained, coding sequence variant
rs1131691593 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
1032
miRTarBase ID miRNA Experiments Reference
MIRT018911 hsa-miR-335-5p Microarray 18185580
MIRT026830 hsa-miR-192-5p Microarray 19074876
MIRT028642 hsa-miR-30a-5p Proteomics 18668040
MIRT688447 hsa-miR-548av-5p HITS-CLIP 23313552
MIRT688446 hsa-miR-548k HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ATF6 Activation 12601012
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0004860 Function Protein kinase inhibitor activity IEA
GO:0004860 Function Protein kinase inhibitor activity ISS
GO:0005576 Component Extracellular region TAS
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm TAS 8666242
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601184 9439 ENSG00000102580
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13217
Protein name DnaJ homolog subfamily C member 3 (Endoplasmic reticulum DNA J domain-containing protein 6) (ER-resident protein ERdj6) (ERdj6) (Interferon-induced, double-stranded RNA-activated protein kinase inhibitor) (Protein kinase inhibitor of 58 kDa) (Protein kina
Protein function Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF-2-alpha at 'Ser-52' and hence attenuating general
PDB 2Y4T , 2Y4U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13432 TPR_16 41 103 Family
PF00515 TPR_1 106 138 Tetratricopeptide repeat Repeat
PF13181 TPR_8 222 255 Tetratricopeptide repeat Repeat
PF00226 DnaJ 394 459 DnaJ domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with high level in the pancreas and testis. Also expressed in cell lines with different levels. {ECO:0000269|PubMed:8666242}.
Sequence
MVAPGSVTSRLGSVFPFLLVLVDLQYEGAECGVNADVEKHLELGKKLLAAGQLADALSQF
HAAVDGDPDNYIAYYRRATVFLAMGKSKAALPDLTKVIQLKMD
FTAARLQRGHLLLKQGK
LDEAEDDFKKVLKSNPSE
NEEKEAQSQLIKSDEMQRLRSQALNAFGSGDYTAAIAFLDKI
LEVCVWDAELRELRAECFIKEGEPRKAISDLKAASKLKNDNTEAFYKISTLYYQLGDHEL
SLSEVRECLKLDQDH
KRCFAHYKQVKKLNKLIESAEELIRDGRYTDATSKYESVMKTEPS
IAEYTVRSKERICHCFSKDEKPVEAIRVCSEVLQMEPDNVNALKDRAEAYLIEEMYDEAI
QDYETAQEHNENDQQIREGLEKAQRLLKQSQKRDYYKILGVKRNAKKQEIIKAYRKLALQ
WHPDNFQNEEEKKKAEKKFIDIAAAKEVLSDPEMRKKFD
DGEDPLDAESQQGGGGNPFHR
SWNSWQGFNPFSSGGPFRFKFHFN
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum
Influenza A
  Viral mRNA Translation
XBP1(S) activates chaperone genes
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Pathogenic; Likely pathogenic rs2139643358, rs2139702590, rs2139591243, rs1594013989, rs2501258173, rs1131691593 RCV002260893
RCV002260894
RCV002260895
RCV002260896
RCV002260897
RCV002466799
RCV001283847
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DNAJC3-related disorder Likely benign; Benign rs185832840, rs765440512, rs2502782592, rs746076866, rs146543814, rs59892430, rs61758425, rs147586888, rs3087336 RCV003947380
RCV003951370
RCV003954382
RCV003954420
RCV003940453
RCV003930769
RCV003922917
RCV003958324
RCV003913232
Prostate cancer Conflicting classifications of pathogenicity rs727502865 RCV000206865
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 25466870
Atrophy Associate 25466870
Breast Neoplasms Associate 22064321, 34895046
Carcinoma Renal Cell Associate 33629299
Colitis Ulcerative Associate 35185383
Colorectal Neoplasms Inhibit 32352854
Crohn Disease Stimulate 31557250
Diabetes Mellitus Associate 25466870, 34630333
Diabetes Mellitus Type 1 Associate 25466870, 34630333
Diabetes Mellitus Type 2 Associate 34630333