Gene Gene information from NCBI Gene database.
Entrez ID 84277
Gene name DnaJ heat shock protein family (Hsp40) member C30
Gene symbol DNAJC30
Synonyms (NCBI Gene)
LHONARLHONAR1MC1DN38WBSCR18
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
miRNA miRNA information provided by mirtarbase database.
435
miRTarBase ID miRNA Experiments Reference
MIRT040551 hsa-miR-92b-3p CLASH 23622248
MIRT721632 hsa-miR-3127-3p HITS-CLIP 19536157
MIRT721631 hsa-miR-6756-3p HITS-CLIP 19536157
MIRT721630 hsa-miR-3144-5p HITS-CLIP 19536157
MIRT721629 hsa-miR-3191-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30318146, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 30318146
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618202 16410 ENSG00000176410
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00226 DnaJ 49 111 DnaJ domain Domain
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
MAAMRWRWWQRLLPWRLLQARGFPQNSAPSLGLGARTYSQGDCSYSRTALYDLLGVPSTA
TQAQIKAAYYRQCFLYHPDRNSGSAEAAERFTRISQAYVVLGSATLRRKYD
RGLLSDEDL
RGPGVRPSRTPAPDPGSPRTPPPTSRTHDGSRASPGANRTMFNFDAFYQAHYGEQLERER
RLRARREALRKRQEYRSMKGLRWEDTRDTAAIFLIFSIFIIIGFYI
Sequence length 226
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
DNAJC30-associated disorder Likely pathogenic; Pathogenic rs61732167 RCV001254067
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DNAJC30-related disorder Likely pathogenic rs782182218 RCV003420729
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber hereditary optic neuropathy, autosomal recessive Likely pathogenic; Pathogenic rs965912564, rs61732167 RCV001730057
RCV001523899
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber optic atrophy, susceptibility to Likely pathogenic; Pathogenic rs61732167 RCV003336359
★★★★☆
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
LEBER HEREDITARY OPTIC NEUROPATHY CTD, Orphanet
CTD, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, HEREDITARY, LEBER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
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
Atrioventricular Block Atrioventricular block Pubtator 39354406 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 39505178 Associate
★☆☆☆☆
Found in Text Mining only
Leigh Disease Leigh syndrome Pubtator 35148383, 38139324, 38478578 Associate
★☆☆☆☆
Found in Text Mining only
Mitochondrial complex I deficiency Mitochondrial complex deficiency Pubtator 33720041 Associate
★☆☆☆☆
Found in Text Mining only
Optic Atrophy Optic atrophy Pubtator 35091433 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy Hereditary Leber Leber hereditary optic neuropathy Pubtator 33465056, 33720041, 33918393, 35091433, 35148383, 36674591, 37071596, 37734847, 38139324, 38478578 Associate
★☆☆☆☆
Found in Text Mining only
Vision Disorders Visual disorder Pubtator 36674591 Associate
★☆☆☆☆
Found in Text Mining only
Williams Syndrome Williams Syndrome BEFREE 30318146
★★☆☆☆
Found in Text Mining + Unknown/Other Associations