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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

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.

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around DNAJC30 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for DNAJC30 Gene at MOPED

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

Q96LL9

UniProtKB/Swiss-Prot:

DJC30_HUMAN :
  • Contains 1 J domain.
Domain:
  • Contains 1 J domain.
genes like me logo Genes that share domains with DNAJC30: view

Function for DNAJC30 Gene

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

Animal Model Products

CRISPR 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

COMPARTMENTS
Jensen Localization Image for DNAJC30 Gene COMPARTMENTS Subcellular localization image for DNAJC30 gene
Compartment Confidence
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
nucleus 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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:

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 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, MOPED, and MaxQB for DNAJC30 Gene



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.
genes like me logo Genes that share expression patterns with DNAJC30: view

Protein tissue co-expression partners for DNAJC30 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia DNAJC30 35
  • 80.78 (n)
  • 75.23 (a)
DNAJC30 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAJC30 35
  • 83.25 (n)
  • 78.61 (a)
DNAJC30 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnajc30 35
  • 76.12 (n)
  • 73.63 (a)
Dnajc30 16
Dnajc30 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNAJC30 35
  • 99.56 (n)
  • 99.12 (a)
rat
(Rattus norvegicus)
Mammalia Dnajc30 35
  • 76.29 (n)
  • 73.63 (a)
oppossum
(Monodelphis domestica)
Mammalia DNAJC30 36
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJC30 35
  • 65.44 (n)
  • 60.29 (a)
DNAJC30 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAJC30 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc30 35
  • 55.56 (n)
  • 61.11 (a)
zebrafish
(Danio rerio)
Actinopterygii AL935293.1 36
  • 23 (a)
OneToMany
DNAJC30 (2 of 2) 36
  • 30 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11035 36
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAJ1 36
  • 11 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for DNAJC30:
  • 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
VAR_024433 -
VAR_048915 -
rs1056750 -- 73,681,040(-) CATTG(C/T)GTGCC utr-variant-3-prime
rs35932014 -- 73,681,382(+) CGTCC(-/C)TCAGT utr-variant-3-prime
rs55789082 -- 73,680,531(+) TTTTT(C/T)TTTTT downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
dgv7325n71 CNV Loss 21882294
nsv831028 CNV Loss 17160897
nsv469841 CNV Complex 16826518
nsv888370 CNV Loss 21882294
nsv888371 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DNAJC30 Gene

Disorders for DNAJC30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNAJC30 Gene - From: 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. (Hum. Genet. 2002) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Protein array based interactome analysis of amyloid-I^ indicates an inhibition of protein translation. (PMID: 21244100) Virok D.P. … FA1lAPp L. (J. Proteome Res. 2011) 3
  4. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 3
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3

Products for DNAJC30 Gene

Sources for DNAJC30 Gene

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