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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

Regulatory Elements for DNAJC30 Gene

Enhancers for DNAJC30 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H073849 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -167.5 -167503 3 PKNOX1 ARNT SIN3A FEZF1 ZNF766 FOS DEK SP3 JUNB SMARCB1 METTL27 BUD23 ELN DNAJC30 VPS37D STAG3L3 MIR590 POM121B BCL7B GC07M073847
GH07H073645 1.5 FANTOM5 Ensembl ENCODE 12.4 +36.5 36541 3 MLX ARID4B YY1 SLC30A9 GLIS2 SP3 SP5 MXD4 NFYC REST NSUN5P2 STAG3L3 POM121 GTF2IRD2P1 METTL27 MIR590 BAZ1B VPS37D DNAJC30 BUD23
GH07H073825 1.6 Ensembl ENCODE dbSUPER 11.3 -146.5 -146484 8 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B ZNF207 METTL27 BUD23 STAG3L3 POM121B POM121 TMEM270 NSUN5P2 DNAJC30 NSUN5 VPS37D
GH07H073612 1.1 ENCODE 12.5 +70.0 69971 2 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 PAF1 BCL7B STX1A VPS37D BUD23 DNAJC30 TBL2 RNU6-1198P METTL27 PMS2P7 NSUN5P2
GH07H073855 1.2 Ensembl ENCODE 10.8 -172.2 -172185 1 PKNOX1 ATF1 SIN3A ZNF121 GLIS2 ZNF143 ATF7 MXD4 REST MIER2 METTL27 BAZ1B DNAJC30 BUD23 VPS37D TMEM270 GC07M073847
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAJC30 on UCSC Golden Path with GeneCards custom track

Promoters for DNAJC30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213495 -47 2201 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS SP3 ZHX2

Genomic Location for DNAJC30 Gene

Chromosome:
7
Start:
73,680,918 bp from pter
End:
73,683,453 bp from pter
Size:
2,536 bases
Orientation:
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:
    Q96LL9-DJC30_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 30
    Protein Accession:
    Q96LL9
    Secondary Accessions:
    • Q9BSG8

    Protein attributes for DNAJC30 Gene

    Size:
    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

InterPro:
ProtoNet:

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAJC30
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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:0005739 mitochondrion IEA --
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

None

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAJC30
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for DNAJC30 Gene

GeneLoc Exon Structure for
DNAJC30
ECgene alternative splicing isoforms for
DNAJC30

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, PaxDb, MaxQB, and MOPED for DNAJC30 Gene



Protein tissue co-expression partners for DNAJC30 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNAJC30 Gene:

DNAJC30

SOURCE GeneReport for Unigene cluster for DNAJC30 Gene:

Hs.647046

mRNA Expression by UniProt/SwissProt for DNAJC30 Gene:

Q96LL9-DJC30_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia DNAJC30 33
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia DNAJC30 33 34
  • 83.25 (n)
cow
(Bos Taurus)
Mammalia DNAJC30 33 34
  • 80.78 (n)
rat
(Rattus norvegicus)
Mammalia Dnajc30 33
  • 76.29 (n)
mouse
(Mus musculus)
Mammalia Dnajc30 33 16 34
  • 76.12 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAJC30 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJC30 33 34
  • 65.44 (n)
lizard
(Anolis carolinensis)
Reptilia DNAJC30 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc30 33
  • 55.56 (n)
zebrafish
(Danio rerio)
Actinopterygii DNAJC30 (2 of 2) 34
  • 30 (a)
OneToMany
AL935293.1 34
  • 23 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11035 34
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAJ1 34
  • 11 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToOne
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

ENSEMBL:
Gene Tree for DNAJC30 (if available)
TreeFam:
Gene Tree for DNAJC30 (if available)

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 Sequence Context AA Info Type
rs1001446592 -- 73,684,536(+) TCAAG(A/C)GATCC intron-variant, upstream-variant-2KB
rs1001907886 -- 73,681,216(+) GCCAA(C/T)GTCCA utr-variant-3-prime
rs1003468683 -- 73,682,807(+) CTCGG(C/G)TATCC upstream-variant-2KB, reference, missense
rs1003583624 -- 73,682,550(+) AAGGC(C/T)TCCTT upstream-variant-2KB, utr-variant-3-prime
rs1003884552 -- 73,681,198(+) TCTCA(C/T)AGCCA utr-variant-3-prime

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)

Relevant External Links for DNAJC30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC30

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
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DJC30_HUMAN
  • 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}.

Relevant External Links for DNAJC30

Genetic Association Database (GAD)
DNAJC30
Human Genome Epidemiology (HuGE) Navigator
DNAJC30
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAJC30
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 60
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 60

Products for DNAJC30 Gene

Sources for DNAJC30 Gene

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