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Aliases for DNAJC30 Gene

Aliases for DNAJC30 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C30 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 18 Protein 3 4
  • Williams Beuren Syndrome Chromosome Region 18 2 3
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 30 2 3
  • WBSCR18 3 4
  • DnaJ Homolog Subfamily C Member 30 3

External Ids for DNAJC30 Gene

Previous HGNC Symbols for DNAJC30 Gene

  • WBSCR18

Previous GeneCards Identifiers for DNAJC30 Gene

  • GC07M072734
  • GC07M073095
  • GC07M068977

Summaries for DNAJC30 Gene

Entrez Gene Summary for 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for DNAJC30 Gene

DNAJC30 (DnaJ Heat Shock Protein Family (Hsp40) Member C30) is a Protein Coding gene. Diseases associated with DNAJC30 include Williams-Beuren Syndrome.

Additional gene information for DNAJC30 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC30 Gene

Genomics for DNAJC30 Gene

GeneHancer (GH) Regulatory Elements for DNAJC30 Gene

Promoters and enhancers for DNAJC30 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J073682 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 657.8 +0.1 111 2.5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B FOS DNAJC30 BUD23 PIR49908 POM121 NSUN5P2 POM121B MIR590 STAG3L3 RFC2 NSUN5
GH07J073825 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 11.3 -146.5 -146484 8.4 HDGF PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 CLDN4 METTL27 BUD23 STAG3L3 POM121B POM121 TMEM270 NSUN5P2 DNAJC30 NSUN5
GH07J073849 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -167.5 -167502 3.9 PKNOX1 CLOCK ARNT SIN3A FEZF1 ZNF766 FOS DEK SP3 JUNB METTL27 BUD23 ELN DNAJC30 VPS37D STAG3L3 MIR590 POM121B BCL7B GC07M073847
GH07J073645 Enhancer 1.4 FANTOM5 Ensembl ENCODE 12.4 +36.5 36541 3.7 MLX ARID4B ZNF48 YY1 SLC30A9 GLIS2 SP3 RXRA SP5 NFYC NSUN5P2 POM121 STAG3L3 GTF2IRD2P1 MIR590 METTL27 POM121B BAZ1B VPS37D BUD23
GH07J073612 Enhancer 1.1 ENCODE 12.5 +70.0 69971 2.6 PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ENSG00000274080 PMS2P7 FKBP6 BCL7B STX1A VPS37D DNAJC30 BUD23 TBL2 STAG3L3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJC30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAJC30 gene promoter:
  • Nkx2-5
  • HEN1
  • Max
  • c-Myc
  • Nkx5-1
  • LCR-F1
  • AML1a
  • HOXA5
  • MAZR
  • MyoD

Genomic Locations for DNAJC30 Gene

Genomic Locations for DNAJC30 Gene
2,536 bases
Minus strand
2,536 bases
Minus strand

Genomic View for DNAJC30 Gene

Genes around DNAJC30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC30 Gene

Proteins for DNAJC30 Gene

  • Protein details for DNAJC30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DnaJ homolog subfamily C member 30
    Protein Accession:
    Secondary Accessions:
    • Q9BSG8

    Protein attributes for DNAJC30 Gene

    226 amino acids
    Molecular mass:
    25961 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DNAJC30 Gene

neXtProt entry for DNAJC30 Gene

Post-translational modifications for DNAJC30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAJC30 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAJC30 Gene

Domains & Families for DNAJC30 Gene

Gene Families for DNAJC30 Gene

Protein Domains for DNAJC30 Gene


Suggested Antigen Peptide Sequences for DNAJC30 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNAJC30: view

No data available for UniProtKB/Swiss-Prot for DNAJC30 Gene

Function for DNAJC30 Gene

Phenotypes From GWAS Catalog for DNAJC30 Gene

genes like me logo Genes that share phenotypes with DNAJC30: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJC30 Gene

Localization for DNAJC30 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJC30 gene
Compartment Confidence
mitochondrion 4
cytosol 4
plasma membrane 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DNAJC30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA --
genes like me logo Genes that share ontologies with DNAJC30: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for DNAJC30 Gene

Pathways & Interactions for DNAJC30 Gene

SuperPathways for DNAJC30 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAJC30 Gene


No data available for Pathways by source and SIGNOR curated interactions for DNAJC30 Gene

Drugs & Compounds for DNAJC30 Gene

No Compound Related Data Available

Transcripts for DNAJC30 Gene

mRNA/cDNA for DNAJC30 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(122) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNAJC30 Gene

DnaJ (Hsp40) homolog, subfamily C, member 30:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC30 Gene

No ASD Table

Relevant External Links for DNAJC30 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DNAJC30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAJC30 Gene

Protein differential expression in normal tissues from HIPED for DNAJC30 Gene

This gene is overexpressed in Nasal epithelium (49.8) and Bone (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNAJC30 Gene

Protein tissue co-expression partners for DNAJC30 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNAJC30 Gene:


SOURCE GeneReport for Unigene cluster for DNAJC30 Gene:


mRNA Expression by UniProt/SwissProt for DNAJC30 Gene:

Tissue specificity: Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis.

Evidence on tissue expression from TISSUES for DNAJC30 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with DNAJC30: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC30 Gene

Orthologs for DNAJC30 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAJC30 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DNAJC30 33
  • 99.56 (n)
(Canis familiaris)
Mammalia DNAJC30 34 33
  • 83.25 (n)
(Bos Taurus)
Mammalia DNAJC30 34 33
  • 80.78 (n)
(Rattus norvegicus)
Mammalia Dnajc30 33
  • 76.29 (n)
(Mus musculus)
Mammalia Dnajc30 16 34 33
  • 76.12 (n)
(Monodelphis domestica)
Mammalia DNAJC30 34
  • 49 (a)
(Gallus gallus)
Aves DNAJC30 34 33
  • 65.44 (n)
(Anolis carolinensis)
Reptilia DNAJC30 34
  • 42 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc30 33
  • 55.56 (n)
(Danio rerio)
Actinopterygii DNAJC30 (2 of 2) 34
  • 30 (a)
AL935293.1 34
  • 23 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11035 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAJ1 34
  • 11 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
Species where no ortholog for DNAJC30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAJC30 Gene

Gene Tree for DNAJC30 (if available)
Gene Tree for DNAJC30 (if available)
Evolutionary constrained regions (ECRs) for DNAJC30: view image

Paralogs for DNAJC30 Gene

No data available for Paralogs for DNAJC30 Gene

Variants for DNAJC30 Gene

Sequence variations from dbSNP and Humsavar for DNAJC30 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1001446592 -- 73,684,536(-) C/A upstream_transcript_variant
rs1001907886 -- 73,681,216(-) C/T 3_prime_UTR_variant
rs1003468683 -- 73,682,807(-) G/C coding_sequence_variant, missense_variant
rs1003583624 -- 73,682,550(-) C/T 3_prime_UTR_variant
rs1003884552 -- 73,681,198(-) C/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for DNAJC30 Gene

Variant ID Type Subtype PubMed ID
nsv469841 CNV loss 16826518
nsv831028 CNV loss 17160897

Variation tolerance for DNAJC30 Gene

Residual Variation Intolerance Score: 60.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.48; 82.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJC30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC30 Gene

Disorders for DNAJC30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNAJC30 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
- elite association - COSMIC cancer census association via MalaCards


  • Note=DNAJC30 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. {ECO:0000305 PubMed:12073013}.

Additional Disease Information for DNAJC30

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DNAJC30: view

No data available for Genatlas for DNAJC30 Gene

Publications for DNAJC30 Gene

  1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G … Reymond A (Human genetics 2002) 2 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for DNAJC30 Gene

Sources for DNAJC30 Gene

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