This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016] See more...

Aliases for DNAJC28 Gene

Aliases for DNAJC28 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C28 2 3 5
  • C21orf78 2 3 4
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 28 2 3
  • DnaJ Homolog Subfamily C Member 28 3 4
  • C21orf55 3 4
  • Chromosome 21 Open Reading Frame 55 2
  • DNAJC28 5
  • Orf28 2

External Ids for DNAJC28 Gene

Previous HGNC Symbols for DNAJC28 Gene

  • C21orf55

Previous GeneCards Identifiers for DNAJC28 Gene

  • GC21M033782
  • GC21M034860
  • GC21M020338

Summaries for DNAJC28 Gene

Entrez Gene Summary for DNAJC28 Gene

  • This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016]

GeneCards Summary for DNAJC28 Gene

DNAJC28 (DnaJ Heat Shock Protein Family (Hsp40) Member C28) is a Protein Coding gene. Diseases associated with DNAJC28 include Mullegama-Klein-Martinez Syndrome and Microphthalmia, Syndromic 10. An important paralog of this gene is COG4.

UniProtKB/Swiss-Prot Summary for DNAJC28 Gene

Gene Wiki entry for DNAJC28 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJC28 Gene

Genomics for DNAJC28 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNAJC28 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJC28 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJC28

Top Transcription factor binding sites by QIAGEN in the DNAJC28 gene promoter:
  • Arnt
  • E2F
  • E2F-1
  • GATA-1
  • Ik-2
  • Pax-6

Genomic Locations for DNAJC28 Gene

Latest Assembly
chr21:33,485,530-33,491,716
(GRCh38/hg38)
Size:
6,187 bases
Orientation:
Minus strand

Previous Assembly
chr21:34,860,362-34,864,023
(GRCh37/hg19 by Entrez Gene)
Size:
3,662 bases
Orientation:
Minus strand

chr21:34,860,497-34,864,027
(GRCh37/hg19 by Ensembl)
Size:
3,531 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr21(ALT_REF_LOCI_1):92,184-95,846 (-)

Genomic View for DNAJC28 Gene

Genes around DNAJC28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC28 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC28 Gene

Proteins for DNAJC28 Gene

  • Protein details for DNAJC28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX36-DJC28_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 28
    Protein Accession:
    Q9NX36
    Secondary Accessions:
    • D3DSF2

    Protein attributes for DNAJC28 Gene

    Size:
    388 amino acids
    Molecular mass:
    45806 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DNAJC28 Gene

Post-translational modifications for DNAJC28 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAJC28 Gene

No data available for DME Specific Peptides for DNAJC28 Gene

Domains & Families for DNAJC28 Gene

Gene Families for DNAJC28 Gene

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

Protein Domains for DNAJC28 Gene

Suggested Antigen Peptide Sequences for DNAJC28 Gene

GenScript: Design optimal peptide antigens:
  • DnaJ homolog subfamily C member 28 (DJC28_HUMAN)
genes like me logo Genes that share domains with DNAJC28: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DNAJC28 Gene

Function for DNAJC28 Gene

Molecular function for DNAJC28 Gene

UniProtKB/Swiss-Prot Function:
May have a role in protein folding or as a chaperone.

Phenotypes From GWAS Catalog for DNAJC28 Gene

Gene Ontology (GO) - Molecular Function for DNAJC28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24407287
genes like me logo Genes that share ontologies with DNAJC28: view
genes like me logo Genes that share phenotypes with DNAJC28: view

Animal Models for DNAJC28 Gene

MGI Knock Outs for DNAJC28:

miRNA for DNAJC28 Gene

miRTarBase miRNAs that target DNAJC28

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC28

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DNAJC28 Gene

Localization for DNAJC28 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 DNAJC28 gene
Compartment Confidence
golgi apparatus 4
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DNAJC28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017119 Golgi transport complex IBA 21873635
genes like me logo Genes that share ontologies with DNAJC28: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for DNAJC28 Gene

Pathways & Interactions for DNAJC28 Gene

PathCards logo

SuperPathways for DNAJC28 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAJC28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA 21873635
GO:0007030 Golgi organization IBA 21873635
GO:0048213 Golgi vesicle prefusion complex stabilization IBA 21873635
genes like me logo Genes that share ontologies with DNAJC28: view

No data available for Pathways by source and SIGNOR curated interactions for DNAJC28 Gene

Drugs & Compounds for DNAJC28 Gene

No Compound Related Data Available

Transcripts for DNAJC28 Gene

mRNA/cDNA for DNAJC28 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC28

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC28 Gene

No ASD Table

Relevant External Links for DNAJC28 Gene

GeneLoc Exon Structure for
DNAJC28

Expression for DNAJC28 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAJC28 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAJC28 Gene

This gene is overexpressed in Testis (x4.1).

Protein differential expression in normal tissues from HIPED for DNAJC28 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DNAJC28 Gene



Protein tissue co-expression partners for DNAJC28 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJC28

SOURCE GeneReport for Unigene cluster for DNAJC28 Gene:

Hs.458308

mRNA Expression by UniProt/SwissProt for DNAJC28 Gene:

Q9NX36-DJC28_HUMAN
Tissue specificity: Expressed in the fetal and adult brain, testis, uterus, spleen and liver.
genes like me logo Genes that share expression patterns with DNAJC28: view

Primer products for research

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC28 Gene

Orthologs for DNAJC28 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAJC28 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DNAJC28 29 30
  • 99.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DNAJC28 29 30
  • 88.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC100856290 29
  • 87.88 (n)
-- 30
  • 82 (a)
OneToMany
-- 30
  • 82 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Dnajc28 29 16 30
  • 78.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dnajc28 29
  • 78.39 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC28 30
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DNAJC28 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C21ORF55 29
  • 67.39 (n)
DNAJC28 30
  • 57 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DNAJC28 30
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dnajc28 29
  • 63.51 (n)
Zebrafish
(Danio rerio)
Actinopterygii dnajc28 29 30
  • 55.04 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009787 29
  • 50.61 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG43322 29 30
  • 49.01 (n)
OneToOne
Species where no ortholog for DNAJC28 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for DNAJC28 Gene

ENSEMBL:
Gene Tree for DNAJC28 (if available)
TreeFam:
Gene Tree for DNAJC28 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAJC28: view image
Alliance of Genome Resources:
Additional Orthologs for DNAJC28

Paralogs for DNAJC28 Gene

Paralogs for DNAJC28 Gene

genes like me logo Genes that share paralogs with DNAJC28: view

Variants for DNAJC28 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJC28 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs147358478 Uncertain Significance: not specified 33,488,892(-) C/A
NM_017833.4(DNAJC28):c.502G>T (p.Glu168Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNAJC28 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DNAJC28 Gene

Variant ID Type Subtype PubMed ID
nsv191 CNV insertion 15895083
nsv3497 CNV insertion 18451855
nsv509795 CNV insertion 20534489
nsv524420 CNV loss 19592680

Variation tolerance for DNAJC28 Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.97; 79.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJC28 Gene

Human Gene Mutation Database (HGMD)
DNAJC28
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC28
Leiden Open Variation Database (LOVD)
DNAJC28

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC28 Gene

Disorders for DNAJC28 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DNAJC28 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNAJC28

genes like me logo Genes that share disorders with DNAJC28: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAJC28 Gene

Publications for DNAJC28 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. (PMID: 12036298) Gardiner K … Davisson M (Genomics 2002) 3 4
  3. A High-Density Human Mitochondrial Proximity Interaction Network. (PMID: 32877691) Antonicka H … Shoubridge EA (Cell metabolism 2020) 3
  4. The mutational constraint spectrum quantified from variation in 141,456 humans. (PMID: 32461654) Karczewski KJ … MacArthur DG (Nature 2020) 3
  5. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. (PMID: 32487729) Rausell A … Abel L (Proceedings of the National Academy of Sciences of the United States of America 2020) 3

Products for DNAJC28 Gene

  • Biorbyt antibodies for DNAJC28

Sources for DNAJC28 Gene