DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 84277 |
| Gene name | DnaJ heat shock protein family (Hsp40) member C30 |
| Gene symbol | DNAJC30 |
| Synonyms (NCBI Gene) |
LHONARLHONAR1MC1DN38WBSCR18
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| Chromosome | 7 |
| Chromosome location | 7q11.23 |
| Summary | This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provid |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q96LL9 | ||||||||||
| Protein name | DnaJ homolog subfamily C member 30, mitochondrial (Williams-Beuren syndrome chromosomal region 18 protein) | ||||||||||
| Protein function | Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity). May be a chaperone protein involved in the t | ||||||||||
| PDB | 2YUA | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis (PubMed:12073013). Highly expressed in the brain (PubMed:30318146). In the neocortex, expressed in most, if not all, glutamatergic excitatory projection neurons | ||||||||||
| Sequence |
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| Sequence length | 226 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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