Homo sapiens gene DNAJC30, encoding DnaJ (Hsp40) homolog, subfamily C, member 30.
SUMMARY back to top
RefSeq summary
[DNAJC30] 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. [provided by RefSeq].

RefSeq annotates one representative transcript.

AceView synopsis, each blue text links to tables and details
According to AceView, this gene is well expressed, 0.8 times the average gene in this release. The sequence of this gene is defined by 92 GenBank accessions from 80 cDNA clones, some from brain (seen 13 times), eye (5), lung (5), colon (4), glioblastoma (pooled) (3), lymph (3), medulla (3) and 57 other tissues. We annotate structural defects or features in 7 cDNA clones.
Function: There are 3 articles specifically referring to this gene in PubMed. Functionally, the gene has been proposed to participate in a process (protein folding). Proteins are expected to have molecular functions (heat shock protein binding, unfolded protein binding) and to localize in various compartments (membrane, mitochondrion). A putative protein interactor has been described (EXOSC6). This gene contains DnaJ domain [Pfam], some transmembrane domains [Psort2].

Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12.
Map on chromosome 7, links to other databases and other names
Map: This gene DNAJC30 maps on chromosome 7, at 7q11.23 according to Entrez Gene. In AceView, it covers 3.83 kb, from 73097781 to 73093951 (NCBI 37, August 2010), on the reverse strand.
Links to: the SNP view, gene overviews from Entrez Gene 84277, GeneCards, expression data from ECgene, UniGene, molecular and other annotations from UCSC. The previous AceView annotation is here.
Other names: The gene is also known as DNAJC30, WBSCR18 or MGC12943, LOC84277. It has been described as dnaJ homolog subfamily C member 30, Williams Beuren syndrome chromosome region 18, williams-Beuren syndrome chromosomal region 18 protein.
Closest AceView homologs in other species ?
The closest mouse genes, according to BlastP, are the AceView genes Wbscr18 (e=4 10-52), Wbscr22 (e=5 10-52).
The closest C.elegans gene, according to BlastP, is the AceView/WormGene dnj-16 (e=8 10-11), which may contain interesting functional annotation.
The closest A.thaliana genes, according to BlastP, are the AceView genes AT3G62600 (e=7 10-10), AT3G12170 (e=10-09), ARL2\/ATDJC39 (e=2 10-09), ATJ6 (e=2 10-09), AT4G39150 (e=2 10-09), AT1G77020 (e=3 10-09), AT5G03160 (e=4 10-09), AT1G21080 (e=6 10-09), AT2G21510 (e=10-08), AT1G76700 (e=10-08), AT3G08970 (e=10-07), which may contain interesting functional annotation
RNA_seq discoveries back to top
Expression/conservation in primates tissues evaluated by cross-mapping to human. back to top
RNA-seq gene expression profile across 16 selected tissues from the Non-Human Primates Reference Transcriptome Resource (link to NHPRTR project).
- Primates: Apes (HUM: Human (Illumina BodyMap 2), CHP: Chimpanzee), Old World monkeys (PTM: Pig-Tailed Macaque, JMI Japanese Macaque, RMI Rhesus Macaque Indian, RMC Rhesus Macaque Chinese, CMM Cynomolgus Macaque Mauritian, CMC Cynomolgus Macaque Chinese, BAB Olive Baboon, SMY Sooty Mangabey); New World monkeys (MST common Marmoset, SQM Squirrel Monkey, OWL Owl Monkey); and Lemurs (MLM Mouse Lemur, RTL Ring-Tailed Lemur).
- The level for significantly expressed genes is color coded in 8 equal sized bins (light to dark green). Light gray is for weak not-accurately measured expression (2 to 8 reads above intergenic background); dark gray for no expression or no sequence conservation (0 read in gene). The plot to the right shows the distribution of measured expression values in all tissues for all genes (blue) and for this gene (green), in Magic index = log2(1000 sFPKM).
You may also examine the strand-specific genome coverage plots on the experimental AceView/Magic hub at UCSC, by tissue or by species. Tracks may be slow to load; please reload if some tracks come up yellow-greenish, and thanks to UCSC for the great work!.
          Complete gene on genome diagram: back to top
Please choose between the zoomable GIF version., and the Flash version.
This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones.
Compact gene diagram back to top
Alternative mRNAs are shown aligned from 5' to 3' on a virtual genome where introns have been shrunk to a minimal length. Exon size is proportional to length, intron height reflects the number of cDNAs supporting each intron, the small numbers show the support of the introns in deep sequencing (with details in mouse-over) . Introns of the same color are identical, of different colors are different. 'Good proteins' are pink, partial or not-good proteins are yellow, uORFs are green. 5' cap or3' poly A flags show completeness of the transcript.
Sequences: click on the numbers to get the DNA back to top
mRNA variant mRNA matching the genome Best predicted protein 5' UTR 3' UTR Upstream sequence Transcription
Downstream sequence
aAug10-unspliced 3831 bp 226 aa 28 bp 3122 bp 2kb probably including promoter 3831 bp 1kb

Gene neighbors and Navigator on chromosome 7q11.23 back to top
ZOOM IN                D:disease,C:conserved,I:interactions,R:regulation,P:publications        
Annotated mRNA diagrams back to top
Bibliography:               3 articles in PubMed back to top
? Gene Summary Gene on genome mRNA Expression Tissue Function, regulation, related genes CI

To mine knowledge about the gene, please click the 'Gene Summary' or the 'Function, regulation, related genes ' tab at the top of the page. The 'Gene Summary' page includes all we learnt about the gene, functional annotations of neighboring genes, maps, links to other sites and the bibliography. The 'Function, regulation, related genes ' page includes Diseases (D), Pathways, GO annotations, conserved domains (C), interactions (I) reference into function, and pointers to all genes with the same functional annotation.
To see the mRNA diagram, sequence and annotation, click the 'mRNA' tab. To examine expression data from all cDNAs clustered in this gene by AceView, click the 'Expression tissue'.

If you know more about this gene, or found errors, please share your knowledge. Thank you !