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Gene: DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30) Homo sapiens
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Symbol: DNAJC30
Name: DnaJ heat shock protein family (Hsp40) member C30
Description: Predicted to be involved in brain development and regulation of mitochondrial ATP synthesis coupled proton transport. Localizes to the mitochondrial inner membrane. Implicated in Williams-Beuren syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DnaJ (Hsp40) homolog, subfamily C, member 30; dnaJ homolog subfamily C member 30; dnaJ homolog subfamily C member 30, mitochondrial; MGC12943; WBSCR18; Williams Beuren syndrome chromosome region 18; williams-Beuren syndrome chromosomal region 18 protein
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38773,680,918 - 73,683,453 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37773,095,248 - 73,097,781 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,733,184 - 72,735,717 (-)NCBINCBI36hg18NCBI36
Build 34772,539,898 - 72,542,432NCBI
Celera768,573,462 - 68,575,995 (-)NCBI
Cytogenetic Map7q11.23NCBI
HuRef768,977,660 - 68,980,193 (-)NCBIHuRef
CHM1_1773,240,984 - 73,243,517 (-)NCBICHM1_1
CRA_TCAGchr7v2772,428,320 - 72,430,853 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on DNAJC30
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1348350
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.