DNAJC19 (DnaJ heat shock protein family (Hsp40) member C19)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 131118
Gene name DnaJ heat shock protein family (Hsp40) member C19
Gene symbol DNAJC19
Synonyms (NCBI Gene)
PAM18TIM14TIMM14
Chromosome 3
Chromosome location 3q26.33
Summary The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutac
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs137854888 C>G Pathogenic Intron variant, splice acceptor variant
rs141007488 G>A Conflicting-interpretations-of-pathogenicity Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs587777224 T>- Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
rs878852999 C>T Likely-pathogenic Splice acceptor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
276
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (276)
miRTarBase ID miRNA Experiments Reference
MIRT001552 hsa-miR-155-5p pSILAC 18668040
MIRT001552 hsa-miR-155-5p qRT-PCR 20584899
MIRT024336 hsa-miR-215-5p Microarray 19074876
MIRT026867 hsa-miR-192-5p Microarray 19074876
MIRT045573 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0001405 Component PAM complex, Tim23 associated import motor IBA
GO:0001671 Function ATPase activator activity IBA
GO:0005515 Function Protein binding IPI 19564938, 20053669
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 12592411
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608977 30528 ENSG00000205981
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DA6
Protein name Mitochondrial import inner membrane translocase subunit TIM14 (DnaJ homolog subfamily C member 19)
Protein function Mitochondrial co-chaperone which forms a complex with prohibitins to regulate cardiolipin remodeling (By similarity). May be a component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00226 DnaJ 65 → 116 DnaJ domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed.
Sequence 
MASTVVAVGLTIAAAGFAGRYVLQAMKHMEPQVKQVFQSLPKSAFSGGYYRGGFEPKMTK
REAALILGVSPTANKGKIRDAHRRIMLLNHPDKGGSPYIAAKINEAKDLLEGQAKK
Sequence length 116
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
124
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
3-Methylglutaconic aciduria type 3 Pathogenic rs145786060 RCV001824933
3-methylglutaconic aciduria type 5 Pathogenic; Likely pathogenic rs587777224, rs1560040369, rs753055824, rs2108509666, rs2108509746, rs137854888, rs764568129, rs878852999, rs2473927704, rs772236610, rs2473924536, rs2473933595, rs145786060, rs1715007577, rs755024172 RCV000106304
RCV001729987
RCV003499190
RCV001780991
RCV002051190
RCV000002028
RCV003079620
RCV002519756
RCV003602278
RCV003845157
RCV003988720
RCV004006235
RCV001206673
RCV001231277
RCV001283818
DNAJC19-related disorder Pathogenic rs137854888 RCV003415625
Gastric cancer Likely pathogenic rs772236610 RCV005871345
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
3-Methylglutaconic aciduria Uncertain significance rs752913622 RCV000714882
Malignant tumor of esophagus - rs1003922271 RCV005930091
Sarcoma Likely benign rs1256818835, rs192120432 RCV005930470
RCV005904314
Uterine carcinosarcoma Likely benign rs192120432 RCV005904315
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Methylglutaconic Aciduria Associate 27485409
3 Methylglutaconic Aciduria Type V Associate 16055927, 32521499, 38142971
Ataxia Associate 27330077
Barth Syndrome Associate 16055927
Carcinoma Ovarian Epithelial Associate 33173439
Cardiomyopathies Associate 38142971
Cardiomyopathy Dilated Associate 20053669, 27330077
Genetic Diseases Inborn Associate 20053669
Heart Diseases Associate 20053669
Mitochondrial Diseases Associate 38142971