DNAJC30

DNAJC30
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2YUA
Identifiers
Aliases	DNAJC30, WBSCR18, DnaJ heat shock protein family (Hsp40) member C30, MC1DN38, LHONAR
External IDs	OMIM: 618202; MGI: 1913364; HomoloGene: 36428; GeneCards: DNAJC30; OMA:DNAJC30 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	73,683,453 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	135,094,716 bp
RNA expression pattern
	Top expressed in
	tibialis anterior muscle; ; pancreatic ductal cell; ; mucosa of ileum; ; endothelial cell; ; myocardium of left ventricle; ; skin of arm; ; Pons; ; deltoid muscle; ; cardiac muscle tissue of right atrium; ; right adrenal gland;
	Top expressed in
	proximal tubule; ; right kidney; ; muscle of thigh; ; muscle tissue; ; striatum of neuraxis; ; human kidney; ; skeletal muscle tissue; ; quadriceps femoris muscle; ; urinary bladder; ; heart;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	cytosol; mitochondrial inner membrane; mitochondrion; membrane; integral component of membrane;
Biological process	brain development; regulation of mitochondrial ATP synthesis coupled proton transport; ATP biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	84277
	66114
	ENSG00000176410
	ENSMUSG00000061118
	Q96LL9
	P59041
	NM_032317
	NM_025362
	NP_115693
	NP_079638
	Wikidata
View/Edit Human	View/Edit Mouse

DnaJ homolog subfamily C member 30 (DNAJC30), also known as Williams Beuren syndrome chromosome region 18 protein (WBSCR18), is a protein that in humans is encoded by the DNAJC30 gene. 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.