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

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
131118
Gene name Gene Name - the full gene name approved by the HGNC.
DnaJ heat shock protein family (Hsp40) member C19
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAJC19
Synonyms (NCBI Gene) Gene synonyms aliases
PAM18, TIM14, TIMM14
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608977 30528 ENSG00000205981
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
3-Methylglutaconic aciduria 3-methylglutaconic aciduria type 5 rs137854888, rs587777224, rs878852999 N/A
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease 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