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 m... See more...

Aliases for DNAJC21 Gene

Aliases for DNAJC21 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C21 2 3 5
  • DNAJA5 2 3 4
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 21 2 3
  • DnaJ Homolog Subfamily C Member 21 3 4
  • DnaJ Homolog Subfamily A Member 5 3 4
  • JJJ1 2 3
  • GS3 2 3
  • JJJ1 DnaJ Domain Protein Homolog (S. Cerevisiae) 2
  • DnaJ Homology Subfamily A Member 5 3
  • JJJ1 DnaJ Domain Protein Homolog 3
  • Protein GS3 4
  • DNAJC21 5
  • BMFS3 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 Pancytopenia. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is DNAJC18.

UniProtKB/Swiss-Prot Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJC21 Gene

Genomics for DNAJC21 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 CraniofacialAtlas 625.4 +0.5 461 3.2 SP1 HNRNPL IKZF1 ZNF692 POLR2A BACH1 TARDBP FOXA1 LARP7 PRDM1 DNAJC21 piR-50444-362 RF00017-4570 AGXT2
GH05J034936 Promoter 0.3 EPDnew 600.4 +6.7 6655 0.1 piR-50444-362 DNAJC21 RF00017-4570 AGXT2
GH05J034914 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 18.7 -13.9 -13850 4.8 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 ZNF512 LEF1 BRIX1 RAD1 lnc-AGXT2-1 DNAJC21 TTC23L RF00017-4570
GH05J034922 Enhancer 1.1 Ensembl ENCODE 18.7 -5.5 -5539 2.8 CREB1 ZNF629 LEF1 ZNF692 BACH1 JUND DDX20 PRDM1 MTA2 MTA1 DNAJC21 BRIX1 ENSG00000215158 RF00017-4571 RAD1 RF00017-4570
GH05J034863 Enhancer 0.6 Ensembl ENCODE 12.6 -65.3 -65339 2.8 POLR2A CEBPG TAF1 NANOG POU5F1 DNAJC21 TTC23L ENSG00000250140 lnc-RAD1-4 piR-48965-114 BRIX1 RF00017-4569 RF00017-4570
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJC21 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJC21

Top Transcription factor binding sites by QIAGEN in the DNAJC21 gene promoter:
  • AML1a
  • Evi-1
  • FOXD3
  • GR
  • GR-alpha
  • Pax-3
  • RORalpha1

Genomic Locations for DNAJC21 Gene

Genomic Locations for DNAJC21 Gene
chr5:34,929,540-34,958,964
(GRCh38/hg38)
Size:
29,425 bases
Orientation:
Plus strand
chr5:34,929,698-34,959,069
(GRCh37/hg19)
Size:
29,372 bases
Orientation:
Plus strand

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=Truncated N-terminus.; 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

Protein Domains for DNAJC21 Gene

Suggested Antigen Peptide Sequences for DNAJC21 Gene

GenScript: Design optimal peptide antigens:
  • Protein GS3 (DJC21_HUMAN)
genes like me logo Genes that share domains with DNAJC21: view

No data available for Graphical View of Domain Structure and 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:0003676 nucleic acid binding IEA --
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

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
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

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

PathCards logo

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

mRNA/cDNA for DNAJC21 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for DNAJC21 Gene

GeneLoc Exon Structure for
DNAJC21

Expression for DNAJC21 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Skin(4.4)
  • Nervous system(4.4)
  • Liver(4.4)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with DNAJC21: view

No data available for 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 30 31
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DNAJC21 30 31
  • 90.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DNAJC21 30 31
  • 88.89 (n)
OneToMany
-- 31
  • 81 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Dnajc21 30 17 31
  • 85.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dnajc21 30
  • 84.24 (n)
Oppossum
(Monodelphis domestica)
Mammalia DNAJC21 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC21 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DNAJC21 30 31
  • 71.79 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DNAJC21 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dnajc21 30
  • 72.19 (n)
Str.6320 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.21744 30
Zebrafish
(Danio rerio)
Actinopterygii dnajc21 30 31
  • 63.07 (n)
OneToOne
wufa66c02 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009943 30
  • 54.41 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG2790 30 31
  • 53.71 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea dnj-17 30 31
  • 54.87 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JJJ1 30 31 33
  • 51.46 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19602g 30
  • 50.1 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABL194C 30
  • 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 Vase (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

Variants for DNAJC21 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJC21 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
636932 Uncertain Significance: not provided 34,949,597(+) G/T NONSENSE,INTRON_VARIANT
714249 Benign: not provided 34,937,544(+) G/A SYNONYMOUS_VARIANT
717195 Likely Benign: not provided 34,929,870(+) G/A SYNONYMOUS_VARIANT
719870 Likely Benign: not provided 34,953,922(+) C/A INTRON_VARIANT
721326 Benign: not provided 34,938,935(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DNAJC21 Gene

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

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

Disorder Aliases PubMed IDs
bone marrow failure syndrome 3
  • bmfs3
pancytopenia
inherited bone marrow failure syndromes
  • bmfs
pectus excavatum
  • funnel chest
tongue disease
  • abnormality of the tongue
- 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.
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
  2. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. (PMID: 28942353) Warren AJ (Advances in biological regulation 2018) 2 3
  3. 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
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for DNAJC21 Gene

Sources for DNAJC21 Gene