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Aliases for DNAJC30 Gene

Aliases for DNAJC30 Gene

  • DnaJ (Hsp40) Homolog, Subfamily C, Member 30 2 3
  • Williams-Beuren Syndrome Chromosomal Region 18 Protein 3 4
  • Williams Beuren Syndrome Chromosome Region 18 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 (Hsp40) Homolog, Subfamily C, Member 30) 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

Genomic Location for DNAJC30 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for DNAJC30 Gene

Gene Families for DNAJC30 Gene

HGNC:
  • DNAJ :Heat shock proteins / DNAJ (HSP40)

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 :
  • Q96LL9
Domain:
  • Contains 1 J domain.
genes like me logo Genes that share domains with DNAJC30: view

Function for DNAJC30 Gene

miRNA for DNAJC30 Gene

miRTarBase miRNAs that target DNAJC30

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for DNAJC30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with DNAJC30: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DNAJC30 Gene

Pathways 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 for DNAJC30 Gene

Transcripts for DNAJC30 Gene

mRNA/cDNA for DNAJC30 Gene

(122) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(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

Integrated Proteomics: protein expression 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 expressions with DNAJC30: view

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
chimpanzee
(Pan troglodytes)
Mammalia DNAJC30 35
  • 99.56 (n)
  • 99.12 (a)
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
oppossum
(Monodelphis domestica)
Mammalia DNAJC30 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnajc30 35
  • 76.29 (n)
  • 73.63 (a)
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 MAF
rs1376 -- 73,681,109(+) CCTCA(A/T)CCTTC utr-variant-3-prime
rs1056750 -- 73,681,040(-) CATTG(C/T)GTGCC utr-variant-3-prime
rs4717100 -- 73,681,018(+) ACAAT(A/C)CATTG utr-variant-3-prime
rs4717803 -- 73,681,314(+) AACAC(A/G)CCTTT utr-variant-3-prime
rs12534824 -- 73,680,435(+) AACAA(C/T)AAATG 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

Relevant External Links for DNAJC30 Gene

HapMap Linkage Disequilibrium report
DNAJC30

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

Disorders for DNAJC30 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for DNAJC30 Gene including...

Search for DNAJC30 Gene in 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.

(1) University of Copenhagen DISEASES for DNAJC30 Gene

Relevant External Links for DNAJC30

Genetic Association Database (GAD)
DNAJC30
Human Genome Epidemiology (HuGE) Navigator
DNAJC30
genes like me logo Genes that share disorders with DNAJC30: view

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
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for DNAJC30 Gene

Sources for DNAJC30 Gene

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