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DNAJC30 Gene

protein-coding GIFtS: 41

GC07M072734

DnaJ (Hsp40) homolog, subfamily C, member 30
(Previous name: Williams Beuren syndrome chromosome region 18 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: WBSCR18)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
MGC12943 ^²
OTTHUMP00000024908 ^²
OTTHUMP00000160500 ^²
WBSCR18 ^², ³

Descriptions
DnaJ (Hsp40) homolog subfamily C member 30 ^²
DnaJ (Hsp40) homolog, subfamily C, member 30 ^²
Williams Beuren syndrome chromosome region 18 ^¹, ²
Williams-Beuren syndrome chromosomal region 18 protein ^³

External Ids
HGNC: 16410¹
Entrez Gene: 84277²
UniProtKB: Q96LL9³
Ensembl: ENSG00000176410⁷

Search outside databases for aliases for DNAJC30 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for 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]

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.23

DNAJC30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M072734: (about GC identifiers)

Start:	72,733,184 bp from pter
End:	72,735,719 bp from pter
Size:	2,536 bases
Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 72,428,320-72,430,853

RefSeq DNA sequence:

NC_000007.12 NT_007758.11 NT_079593.2

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

PDB structures from and Proteopedia :

2YUA (3D)

Secondary accessions: Q9BSG8

REFSEQ proteins: NP_115693.2

ENSEMBL proteins:

ENSP00000378605

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (DNAJC30)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

Antibodies for DNAJC30:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for DNAJC30
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (DNAJC30), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (WBSCR18)
	Novus Biologicals Antibody for DNAJC30

Assays for DNAJC30:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q96LL9

ProtoNet protein and cluster: Q96LL9

UniProtKB/Swiss-Prot: DJC30_HUMAN, Q96LL9

Similarity: Contains 1 J domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (DNAJC30)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_032317

Applied Biosystems Silencer® siRNAs for DNAJC30

Sigma-Aldrich siRNA and siRNA Panels for DNAJC30

Sigma-Aldrich shRNA for DNAJC30

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for DNAJC30
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_032317
Myc/DDK tagged cDNA clone in CMV expression vector: NM_032317
untagged cDNA clone in CMV expression vector: NM_032317

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_032317

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0031072	heat shock protein binding	IEA	--
GO:0051082	unfolded protein binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006457	protein folding	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for DNAJC30

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (DNAJC30)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_032317

Sigma-Aldrich siRNA and siRNA Panels for DNAJC30

Sigma-Aldrich shRNA for DNAJC30

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_032317

REFSEQ mRNAs for DNAJC30 gene:

NM_032317.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_032317

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_032317
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_032317
                                 untagged cDNA clone in CMV expression vector: NM_032317

Additional cDNA sequence:

AF412025.1 AK058113.1 AK094305.1 AK303989.1 BC005056.1 CR596408.1 CR623869.1

6 DOTS entries:

DT.453674 DT.443170 DT.436079 DT.102822407 DT.92420755 DT.97862685

24/122 AceView cDNA sequences (see all 122 ):

BM703841 BM720123 CR596408 CK820611 AK058113 NM_032317 AI382354 AF412025

BI061552 BI333348 BF432618 BQ222004 CD366040 AI934478 AW849450 AI141631

CR623869 AA858076 BM672043 N80863 BM021421 AI333444 BE395312 BF747263

Unigene Cluster for DNAJC30:

DnaJ (Hsp40) homolog, subfamily C, member 30

Hs.647046 [show with all ESTs]

Unigene Representative Sequence: NM_032317

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000395176

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

DNAJC30 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for DNAJC30

¹ / ²

7 probe-sets matching DNAJC30 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
54855_at²	U95-B	1	1.00	1.00	0.62	1.51	--	--	--	--	--
83429_at²	U95-E	1	0.88	1.00	0.72	0.78	--	--	--	--	--
78492_r_at*²	U95-D	1	--	--	0.68	0.73	--	--	--	--	--
223367_at²	U133-B	1	1.00	1.00	--	--	--	--	--	--	--
239018_at²	U133-B	1	0.55	1.00	--	--	--	--	--	--	--
223367_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
239018_at²	U133Plus2	1	0.55	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGTATGGTGG

SOURCE GeneReport for Unigene cluster: Hs.647046
UniProtKB/Swiss-Prot: DJC30_HUMAN, Q96LL9
Tissue specificity: Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for DNAJC30 gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	DNAJC30¹	--	DnaJ (Hsp40) homolog, subfamily C, member 30	81.55(n) 75(a)	489805 XM_844676.1 XP_849769.1
chimpanzee (Pan troglodytes)	DNAJC30¹	--	DnaJ (Hsp40) homolog, subfamily C, member 30	99.41(n) 99.12(a)	742506 XM_001145797.1 XP_001145797.1
cow (Bos taurus)	DNAJC30¹	--	DnaJ (Hsp40) homolog, subfamily C, member 30	82.8(n) 80.32(a)	617118 XM_869309.2 XP_874402.2
rat (Rattus norvegicus)	Dnajc30¹	--	DnaJ (Hsp40) homolog, subfamily C, member 30	75.34(n) 70.78(a)	368190 XM_347344.3 XP_347345.1
mouse (Mus musculus)	Dnajc30^{1, 5}	5⁵	DnaJ (Hsp40) homolog, subfamily C, member 30^{1, 5}	74.89(n)¹ 70.32(a)¹	66114¹ NM_025362.3¹ NP_079638.2¹ AC084109⁵ AF412026⁵ (see all 14)

About this table Species with no ortholog for DNAJC30

ENSEMBL Gene Tree for DNAJC30

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10 NCBI SNPs in DNAJC30 are shown
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (only AB snps)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs1056750^1,2	A,C,F	72733306(-)	`CATTGC/TGTGCC`	1	--	ut3¹		5		MN NA EA	546
	rs1376^1,2	A,C,F	72733375(+)	`CCTCAT/ACCTTC`	1	--	ut3¹		2		MN	368
	rs4717100^1,2	H	72733284(+)	`ACAATA/CCATTG`	1	--	ut3¹		4		EU EA WA	394
--	rs55794557^1,2	--	72732803(+)	`TTTTTC/TTTTTT`	1	--	ng5¹		0	--	--	--	--
--	rs12534824^1,2	--	72732701(+)	`AACAAC/TAAATG`	1	--	ng5¹		0	--	--	--	--
--	rs73702565^1,2	--	72733307(+)	`GCACGC/GAATGA`	1	--	ut3¹		0	--	--	--	--
--	rs71676815^1,2	--	72732818(+)	`TTTTT-/TGAGAT`	1	--	ng5¹		0	--	--	--	--
--	rs55789082^1,2	--	72732797(+)	`TTTTTC/TTTTTT`	1	--	ng5¹		0	--	--	--	--
--	rs4717803^1,2	--	72733580(+)	`AACACA/GCCTTT`	1	--	ut3¹		0	--	--	--	--
--	rs35932014^1,2	--	72733648(+)	`CGTCC-/CTCAGT`	1	--	ut3¹		0	--	--	--	--

About this table
The following additional 16 SNP(s) have been found in Applied Biosystems data source:

(Click for Applied Biosystems TaqMan ® Genotyping Assay)

rs11981989	rs2884050	rs4644119	rs12540944	rs1109512	rs10267271	rs13242693
rs2141167	rs8891	rs2293489	rs10949826	rs1569062	rs2293486	rs2141166
rs2293490	rs941297

HapMap Linkage Disequilibrium images for DNAJC30 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

UniProtKB/Swiss-Prot: DJC30_HUMAN, Q96LL9

Haploinsufficiency of DNAJC30 may be the cause of certain cardiovascular and

musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS), a rare developmental

disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

6 PubMed articles for DNAJC30 gene:

Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)^{2, 3, 4} 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)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{3, 4} Hillier L.W.... Wilson R.K. (2003)
A protein interaction framework for human mRNA degradation. (PubMed id 15231747)³ 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)³ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 84277	HGNC: 16410	AceView: WBSCR18	Ensembl:ENSG00000176410	euGenes: HUgn84277
ECgene: DNAJC30	H-InvDB: DNAJC30

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for DNAJC30
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for DNAJC30:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for DNAJC30-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for DNAJC30		Antibodies for DNAJC30
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for DNAJC30		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Search for Recombinant Proteins
	Antibodies (WBSCR18)
	Search for Chimera RNAi
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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Antibodies for DNAJC30

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DNAJC30 Gene

protein-coding GIFtS: 41

Aliases &
Descriptions
for DNAJC30

Summaries
for DNAJC30

Genomic Location
for DNAJC30

Proteins
for DNAJC30

Protein Domains/
Families
for DNAJC30

Gene Function
for DNAJC30

Pathways & Interactions
for DNAJC30

Drugs & Compounds
for DNAJC30

Transcripts
for DNAJC30

Expression
for DNAJC30

Orthologs
for DNAJC30

Paralogs
for DNAJC30

SNPs/Variants
for DNAJC30

Disorders & Mutations
for DNAJC30

Medical News
for DNAJC30

Publications
for DNAJC30

Search for DNAJC30

Genome Databases showing DNAJC30

Other Databases showing DNAJC30

Specialized Databases showing DNAJC30

Licensable Technologies
for DNAJC30

Services
for DNAJC30

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

DNAJC30 Gene

protein-coding GIFtS: 41

Aliases & Descriptionsfor DNAJC30

Summariesfor DNAJC30

Genomic Locationfor DNAJC30

Proteinsfor DNAJC30

Protein Domains/Familiesfor DNAJC30

Gene Functionfor DNAJC30

Pathways & Interactionsfor DNAJC30

Drugs & Compoundsfor DNAJC30

Transcriptsfor DNAJC30

Expression for DNAJC30

Orthologsfor DNAJC30

Paralogsfor DNAJC30

SNPs/Variantsfor DNAJC30

Disorders & Mutationsfor DNAJC30

Medical Newsfor DNAJC30

Publicationsfor DNAJC30

Search for DNAJC30

Genome Databases showing DNAJC30

Other Databases showing DNAJC30

Specialized Databases showing DNAJC30

Licensable Technologiesfor DNAJC30

Servicesfor DNAJC30

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for DNAJC30

Summaries
for DNAJC30

Genomic Location
for DNAJC30

Proteins
for DNAJC30

Protein Domains/
Families
for DNAJC30

Gene Function
for DNAJC30

Pathways & Interactions
for DNAJC30

Drugs & Compounds
for DNAJC30

Transcripts
for DNAJC30

Expression
for DNAJC30

Orthologs
for DNAJC30

Paralogs
for DNAJC30

SNPs/Variants
for DNAJC30

Disorders & Mutations
for DNAJC30

Medical News
for DNAJC30

Publications
for DNAJC30

Licensable Technologies
for DNAJC30

Services
for DNAJC30