DNAJC30 Gene
protein-coding GIFtS: 43
GCID: GC07M073095
|
|
DnaJ (Hsp40) homolog, subfamily C, member 30(Previous name: Williams Beuren syndrome chromosome region 18 )
(Previous symbol: WBSCR18)
| |
Aliases
for DNAJC30 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| DnaJ (Hsp40) Homolog, Subfamily C, Member 301 2 | | WBSCR181 2 3 | | Williams Beuren Syndrome Chromosome Region 181 2 | | Williams-Beuren Syndrome Chromosomal Region 18 Protein2 3 | | DnaJ Homolog Subfamily C Member 302 |
Export aliases for DNAJC30 gene to outside databasesPrevious GC identifers: GC07M072734 GC07M068977 |
Summaries
for DNAJC30 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DNAJC30:
This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. Thisgene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genesat 7q11.23. (provided by RefSeq, Jul 2008)
|
Genomic Views
for DNAJC30 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007933.15 NT_079593.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DNAJC30 gene promoter:
MAZR AML1a MyoD Nkx2-5 LCR-F1 Nkx5-1 HEN1 Max HOXA5 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for DNAJC30
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAJC30 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.23DNAJC30 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M073095: view genomic region
(about GC identifiers)
Start:
|
73,095,248 bp from pter |
End:
|
73,097,783 bp from pter |
Size:
|
2,536 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 72,428,320-72,430,853 |
|
Proteins
for DNAJC30 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DJC30_HUMAN, Q96LL9 (See
protein sequence)Recommended Name: DnaJ homolog subfamily C member 30 Size: 226 amino acids; 25961 Da
1 PDB 3D structure from  and Proteopedia  for DNAJC30:2YUA (3D)
Secondary accessions: Q9BSG8Explore the universe of human proteins at neXtProt for DNAJC30: NX_Q96LL9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96LL9
DNAJC30 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_115693.2
ENSEMBL proteins: ENSP00000378605
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
IEA | -- |
DNAJC30 for ontologies About GeneDecksing
DNAJC30 Antibody Products:
Assay Products for DNAJC30: |
Protein
Domains /
Families
for DNAJC30 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DNAJC30 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96LL9ProtoNet protein and cluster: Q96LL9 UniProtKB/Swiss-Prot: DJC30_HUMAN, Q96LL9Similarity: Contains 1 J domain |
Function
for DNAJC30 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC30 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC30
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DNAJC30 (NM_032317) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DNAJC30 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAJC30 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAJC30 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0031072 | heat shock protein binding |
IEA | -- | | GO:0051082 | unfolded protein binding |
IEA | -- |
DNAJC30 for ontologies About GeneDecksing
|
Pathways & Interactions
for DNAJC30 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAJC30
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
3 Interacting proteins for DNAJC30 (Q96LL93 ENSP000003786054) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006457 | protein folding |
IEA | -- |
DNAJC30 for ontologies About GeneDecksing
|
Drugs & Compounds
for DNAJC30 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DNAJC30
Search CenterWatch for drugs/clinical trials and news about DNAJC30 / DJC30
|
Transcripts
for DNAJC30 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DNAJC30 gene: NM_032317.2 Unigene Cluster for DNAJC30: DnaJ (Hsp40) homolog, subfamily C, member 30 Hs.647046 [show with all ESTs]Unigene Representative Sequence: NM_0323171 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000395176(uc003tys.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC30 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC30
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DNAJC30 (NM_032317) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DNAJC30 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAJC30 |
Additional cDNA sequence: AF412025.1 AK058113.1 AK094305.1 AK303989.1 BC005056.1 7 DOTS entries: DT.453674 DT.436079 DT.102822407 DT.443170 DT.92420755 DT.121099625 DT.97862685 24/122 AceView cDNA sequences (see all 122): AF412025 AI382354 BI333348 AI934478 AI141631 CR596408 BQ222004 AW849450 BM720123 CR623869 BI061552 CD366040 AK058113 CK820611 NM_032317 BF432618 AA858076 BM703841 AA670394 AI200302 CF140817 CF130863 BF812209 AI333444
GeneLoc Exon Structure
|
Expression
for DNAJC30 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DNAJC30 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTATGGTGG
About this image
See DNAJC30 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DNAJC30
SOURCE GeneReport for Unigene cluster: Hs.647046
UniProtKB/Swiss-Prot: DJC30_HUMAN, Q96LL9Tissue specificity: Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis
SABiosciences Custom PCR Arrays for DNAJC30
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAJC30
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNAJC30 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAJC30 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAJC30 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAJC30 |
Orthologs
for DNAJC30 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for DNAJC30 gene from 5/15 species (see all 15) About this table
ENSEMBL Gene Tree for DNAJC30 (if available)
TreeFam Gene Tree for DNAJC30 (if available) |
Paralogs
for DNAJC30 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DNAJC30 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DNAJC30 (73095248 - 73097783 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DNAJC30: -- | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for DNAJC30 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DNAJC30 for disorders About GeneDecksing
UniProtKB/Swiss-Prot: DJC30_HUMAN, Q96LL9
Note=DNAJC30 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygousdeletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over betweenhighly homologous low-copy repeat sequences flanking the deleted region
2  diseases for DNAJC30: About MalaCardswilliams-beuren syndrome williams syndrome
1 disease from the University of Copenhagen DISEASES database for DNAJC30:Williams-Beuren syndrome Human Genome Epidemiology (HuGE) Navigator: DNAJC30 (1 document)
Export disorders for DNAJC30 gene to outside databases
|
Publications
for DNAJC30 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for DNAJC30 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DNAJC30) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G....Reymond A. (2002)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- A protein interaction framework for human mRNA degradation. (PubMed id 15231747)1 Lehner B. and Sanderson C.M. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for DNAJC30 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DNAJC30 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DNAJC30 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DNAJC30 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for DNAJC30 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DNAJC30 gene:
Search GeneIP for patents involving DNAJC30
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DNAJC30 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DNAJC30 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNAJC30 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAJC30 | | | OriGene Protein Over-expression Lysate for DNAJC30 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DNAJC30 | | OriGene 3'-UTR Clone for DNAJC30 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC30 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC30 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DNAJC30 | | OriGene Custom Protein Services for DNAJC30 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DNAJC30 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAJC30 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAJC30 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNAJC30 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAJC30 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAJC30 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for DNAJC30 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | DNAJC30 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAJC30 |
|  |  |  | | | | Search ThermoFisher Antibodies for DNAJC30 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAJC30 |
|
|
|
|
