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Aliases for DNAJC21 Gene

Aliases for DNAJC21 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C21 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 21 2 3
  • DnaJ Homolog Subfamily A Member 5 3 4
  • DNAJA5 3 4
  • JJJ1 DnaJ Domain Protein Homolog (S. Cerevisiae) 2
  • DnaJ Homology Subfamily A Member 5 3
  • DnaJ Homolog Subfamily C Member 21 3
  • JJJ1 DnaJ Domain Protein Homolog 3
  • Protein GS3 4
  • BMFS3 3
  • JJJ1 3
  • GS3 3

External Ids for DNAJC21 Gene

Previous GeneCards Identifiers for DNAJC21 Gene

  • GC05P034965

Summaries for DNAJC21 Gene

Entrez Gene Summary for DNAJC21 Gene

  • This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]

GeneCards Summary for DNAJC21 Gene

DNAJC21 (DnaJ Heat Shock Protein Family (Hsp40) Member C21) is a Protein Coding gene. Diseases associated with DNAJC21 include Bone Marrow Failure Syndrome 3 and Inherited Bone Marrow Failure Syndromes. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot for DNAJC21 Gene

  • May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA.

Additional gene information for DNAJC21 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC21 Gene

Genomics for DNAJC21 Gene

GeneHancer (GH) Regulatory Elements for DNAJC21 Gene

Promoters and enhancers for DNAJC21 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J034928 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 675.5 +0.4 439 2.5 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B ZNF143 DNAJC21 GC05P034888 AGXT2
GH05J034936 Promoter 0.5 EPDnew 650.4 +6.6 6602 0.1 DNAJC21 AGXT2
GH05J034913 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.7 -13.7 -13713 4.4 CLOCK FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SSRP1 BRIX1 RAD1 DNAJC21 TTC23L GC05P034888
GH05J034006 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 -920.9 -920937 4.5 FOXA2 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B AMACR ENSG00000249572 BRIX1 TTC23L LOC643373 DNAJC21 C1QTNF3 C1QTNF3-AMACR
GH05J034922 Enhancer 1.2 Ensembl ENCODE 18.7 -5.7 -5725 2.5 ATF1 ARNT FEZF1 ZNF2 TCF12 ZNF766 E2F8 ATF7 FOS RUNX3 DNAJC21 BRIX1 LOC643373 RAD1 GC05P034888
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNAJC21 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAJC21 gene promoter:

Genomic Locations for DNAJC21 Gene

Genomic Locations for DNAJC21 Gene
chr5:34,929,593-34,958,964
(GRCh38/hg38)
Size:
29,372 bases
Orientation:
Plus strand
chr5:34,929,698-34,959,069
(GRCh37/hg19)

Genomic View for DNAJC21 Gene

Genes around DNAJC21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC21 Gene

Proteins for DNAJC21 Gene

  • Protein details for DNAJC21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5F1R6-DJC21_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 21
    Protein Accession:
    Q5F1R6
    Secondary Accessions:
    • Q3B7J9
    • Q6P086
    • Q6ZS43
    • Q86VC6

    Protein attributes for DNAJC21 Gene

    Size:
    531 amino acids
    Molecular mass:
    62028 Da
    Quaternary structure:
    • Interacts with HSPA8, PA2G4 and ZNF622.
    SequenceCaution:
    • Sequence=AAH65745.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI07578.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAC87112.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAJC21 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJC21 Gene

Post-translational modifications for DNAJC21 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNAJC21 Gene

Domains & Families for DNAJC21 Gene

Gene Families for DNAJC21 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DNAJC21 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNAJC21: view

No data available for UniProtKB/Swiss-Prot for DNAJC21 Gene

Function for DNAJC21 Gene

Molecular function for DNAJC21 Gene

UniProtKB/Swiss-Prot Function:
May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA.

Phenotypes From GWAS Catalog for DNAJC21 Gene

Gene Ontology (GO) - Molecular Function for DNAJC21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 17500595
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DNAJC21: view
genes like me logo Genes that share phenotypes with DNAJC21: view

Human Phenotype Ontology for DNAJC21 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAJC21 Gene

MGI Knock Outs for DNAJC21:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC21

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DNAJC21 Gene

Localization for DNAJC21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC21 Gene

Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Within the nucleus, localizes primarily to the nucleolus. {ECO:0000269 PubMed:27346687}.

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 DNAJC21 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNAJC21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
GO:0005840 ribosome NAS 16952052
genes like me logo Genes that share ontologies with DNAJC21: view

Pathways & Interactions for DNAJC21 Gene

SuperPathways for DNAJC21 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAJC21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 16952052
genes like me logo Genes that share ontologies with DNAJC21: view

No data available for Pathways by source and SIGNOR curated interactions for DNAJC21 Gene

Drugs & Compounds for DNAJC21 Gene

No Compound Related Data Available

Transcripts for DNAJC21 Gene

Unigene Clusters for DNAJC21 Gene

DnaJ (Hsp40) homolog, subfamily C, member 21:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC21

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC21 Gene

No ASD Table

Relevant External Links for DNAJC21 Gene

GeneLoc Exon Structure for
DNAJC21
ECgene alternative splicing isoforms for
DNAJC21

Expression for DNAJC21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAJC21 Gene

Protein differential expression in normal tissues from HIPED for DNAJC21 Gene

This gene is overexpressed in Lung (54.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNAJC21 Gene



Protein tissue co-expression partners for DNAJC21 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNAJC21 Gene:

DNAJC21

SOURCE GeneReport for Unigene cluster for DNAJC21 Gene:

Hs.131887

mRNA Expression by UniProt/SwissProt for DNAJC21 Gene:

Q5F1R6-DJC21_HUMAN
Tissue specificity: Expressed in brain, placenta, kidney and pancreas.

Evidence on tissue expression from TISSUES for DNAJC21 Gene

  • Liver(4.3)
  • Nervous system(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with DNAJC21: 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 DNAJC21 Gene

Orthologs for DNAJC21 Gene

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

Orthologs for DNAJC21 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJC21 34 33
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNAJC21 34 33
  • 90.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DNAJC21 34 33
  • 88.89 (n)
OneToMany
-- 34
  • 81 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dnajc21 16 34 33
  • 85.79 (n)
rat
(Rattus norvegicus)
Mammalia Dnajc21 33
  • 84.24 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAJC21 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC21 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJC21 34 33
  • 71.79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAJC21 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc21 33
  • 72.19 (n)
Str.6320 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.21744 33
zebrafish
(Danio rerio)
Actinopterygii dnajc21 34 33
  • 63.07 (n)
OneToOne
wufa66c02 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009943 33
  • 54.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2790 34 33
  • 53.71 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dnj-17 34 33
  • 54.87 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JJJ1 36 34 33
  • 51.46 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19602g 33
  • 50.1 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL194C 33
  • 49.14 (n)
Species where no ortholog for DNAJC21 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for DNAJC21 Gene

ENSEMBL:
Gene Tree for DNAJC21 (if available)
TreeFam:
Gene Tree for DNAJC21 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAJC21: view image

Paralogs for DNAJC21 Gene

(1) SIMAP similar genes for DNAJC21 Gene using alignment to 1 proteins:

  • DJC21_HUMAN
genes like me logo Genes that share paralogs with DNAJC21: view

No data available for Paralogs for DNAJC21 Gene

Variants for DNAJC21 Gene

Sequence variations from dbSNP and Humsavar for DNAJC21 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs150576702 pathogenic, Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3 34,937,404(+) C/T coding_sequence_variant, stop_gained
rs368148362 pathogenic, Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3 34,941,184(+) G/A/T splice_donor_variant
rs770282904 pathogenic, Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3 34,938,907(+) G/C/T coding_sequence_variant, missense_variant, stop_gained
rs879253818 pathogenic, Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3, Bone marrow failure syndrome 3 (BMFS3) [MIM:617052] 34,929,913(+) C/G coding_sequence_variant, missense_variant
VAR_036163 A breast cancer sample p.Asp214Asn

Structural Variations from Database of Genomic Variants (DGV) for DNAJC21 Gene

Variant ID Type Subtype PubMed ID
dgv5629n100 CNV gain 25217958
esv28154 CNV loss 19812545
esv3604679 CNV gain 21293372
esv3604691 CNV gain 21293372
nsv1028968 CNV gain 25217958
nsv4789 CNV deletion 18451855
nsv597809 CNV gain 21841781
nsv597810 CNV gain 21841781

Variation tolerance for DNAJC21 Gene

Residual Variation Intolerance Score: 49.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.37; 42.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJC21 Gene

Human Gene Mutation Database (HGMD)
DNAJC21
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC21

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC21 Gene

Disorders for DNAJC21 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DNAJC21 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DJC21_HUMAN
  • Bone marrow failure syndrome 3 (BMFS3) [MIM:617052]: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra hematopoietic features. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive. {ECO:0000269 PubMed:27346687}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DNAJC21

genes like me logo Genes that share disorders with DNAJC21: view

No data available for Genatlas for DNAJC21 Gene

Publications for DNAJC21 Gene

  1. Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain. (PMID: 15067379) Chen J … Mao Y (International journal of molecular medicine 2004) 2 3 4 58
  2. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. (PMID: 27346687) Tummala H … Vulliamy T (American journal of human genetics 2016) 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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

Products for DNAJC21 Gene

Sources for DNAJC21 Gene

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