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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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 diabetes mellitus-central and peripheral neurodegeneration syndrome Pathogenic; Likely pathogenic rs2139643358, rs2139702590, rs2139591243, rs1594013989, rs2501258173, rs1131691593 RCV002260893
RCV002260894
RCV002260895
RCV002260896
RCV002260897
View all (2 more)
★★★★★
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
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS CTD, HPO
CTD, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DNAJC3-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE-ONSET DIABETES MELLITUS, CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME Disgenet
★★☆☆☆
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
Ataxia Ataxia Pubtator 25466870 Associate
★☆☆☆☆
Found in Text Mining only
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus ORPHANET_DG 25466870
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus GENOMICS_ENGLAND_DG 25466870
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrophy Atrophy Pubtator 25466870 Associate
★☆☆☆☆
Found in Text Mining only
Atrophy of the spinal cord Atrophy of the spinal cord HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrophy/Degeneration affecting the brainstem Brainstem Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18559534, 22064321
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22064321, 34895046 Associate
★☆☆☆☆
Found in Text Mining only