Aliases for DNAJC2 Gene
Aliases for DNAJC2 Gene
External Ids for DNAJC2 Gene
- HGNC: 13192
- Entrez Gene: 27000
- Ensembl: ENSG00000105821
- OMIM: 605502
- UniProtKB: Q99543
Previous HGNC Symbols for DNAJC2 Gene
- ZRF1
Previous GeneCards Identifiers for DNAJC2 Gene
- GC07M102741
- GC07M102952
- GC07M097315
Summaries for DNAJC2 Gene
-
This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for DNAJC2 Gene
DNAJC2 (DnaJ Heat Shock Protein Family (Hsp40) Member C2) is a Protein Coding gene. Among its related pathways are Translational Control and Cellular response to heat stress. Gene Ontology (GO) annotations related to this gene include histone binding. An important paralog of this gene is DNAJC1.
UniProtKB/Swiss-Prot for DNAJC2 Gene
-
Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb-repressed genes to an active state: specifically recruited at histone H2A ubiquitinated at Lys-119 (H2AK119ub), and promotes the displacement of the polycomb PRC1 complex from chromatin, thereby facilitating transcription activation. Specifically binds DNA sequence 5-GTCAAGC-3.
Additional gene information for DNAJC2 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC2 Gene
Genomics for DNAJC2 Gene
GeneHancer (GH) Regulatory Elements for DNAJC2 Gene
Promoters and enhancers for DNAJC2 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 DNAJC2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DNAJC2 gene promoter:
-
- Max
- c-Myc
- Pax-5
- Tal-1beta
- E47
- SRF (504 AA)
- SRF
- PPAR-gamma2
- Egr-2
- PPAR-gamma1
Regulatory Element Products
Genomic Locations for DNAJC2 Gene
Genomic Locations for DNAJC2 Gene
- chr7:103,312,474-103,344,873
- (GRCh38/hg38)
- Size:
- 32,400 bases
- Orientation:
- Minus strand
- chr7:102,952,921-102,985,320
- (GRCh37/hg19)
- Size:
- 32,400 bases
- Orientation:
- Minus strand
Genomic View for DNAJC2 Gene
Genes around DNAJC2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q22.1 by Entrez Gene
- 7q22.1 by HGNC
- 7q22.1 by Ensembl
DNAJC2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DNAJC2 Gene
Proteins for DNAJC2 Gene
-
Protein details for DNAJC2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99543-DNJC2_HUMAN
- Recommended name:
- DnaJ homolog subfamily C member 2
- Protein Accession:
- Q99543
- A4VCI0
- Q9BVX1
Protein attributes for DNAJC2 Gene
- Size:
- 621 amino acids
- Molecular mass:
- 71996 Da
- Quaternary structure:
-
- Interacts (via ZRF1-UBD region) with ID1 (By similarity). Component of ribosome-associated complex (RAC), a heterodimer composed of Hsp70/DnaK-type chaperone HSPA14 and Hsp40/DnaJ-type chaperone DNAJC2.
- Miscellaneous:
-
- Constitutes a myeloid leukemia-associated antigen and might be a target for leukemia T-cell therapy.
- SequenceCaution:
-
- Sequence=AAI39752.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA66913.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for DNAJC2 Gene
Post-translational modifications for DNAJC2 Gene
- Phosphorylated in M (mitotic) phase.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for DNAJC2 Gene
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-
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Assay Products
No data available for DME Specific Peptides for DNAJC2 Gene
Domains & Families for DNAJC2 Gene
Gene Families for DNAJC2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for DNAJC2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for DNAJC2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99543UniProtKB/Swiss-Prot:
DNJC2_HUMAN :- The ZRF1-UBD region specifically recognizes and binds H2AK119ub. The ZRF1-UBD region is also involved in protein-protein interactions with other proteins, suggesting that it may be masked by some regulator, thereby preventing its association with H2AK119ub.
- Domain:
-
- The ZRF1-UBD region specifically recognizes and binds H2AK119ub. The ZRF1-UBD region is also involved in protein-protein interactions with other proteins, suggesting that it may be masked by some regulator, thereby preventing its association with H2AK119ub.
Function for DNAJC2 Gene
Molecular function for DNAJC2 Gene
- UniProtKB/Swiss-Prot Function:
- Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb-repressed genes to an active state: specifically recruited at histone H2A ubiquitinated at Lys-119 (H2AK119ub), and promotes the displacement of the polycomb PRC1 complex from chromatin, thereby facilitating transcription activation. Specifically binds DNA sequence 5-GTCAAGC-3.
- UniProtKB/Swiss-Prot Induction:
- Expression is repressed by CEBPA. Strongly overexpressed in leukemic cells.
Phenotypes From GWAS Catalog for DNAJC2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | ISM | 19274049 |
| GO:0001671 | ATPase activator activity | TAS | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IDA | 21179169 |
| GO:0003723 | RNA binding | HDA | 22658674 |
Phenotypes for DNAJC2 Gene
- GenomeRNAi human phenotypes for DNAJC2:
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJC2 Gene
Localization for DNAJC2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DNAJC2 Gene
- Nucleus. Cytoplasm, cytosol.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 8885239 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 8885239 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0031965 | nuclear membrane | IDA | -- |
Pathways & Interactions for DNAJC2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cellular response to heat stress | ||
| 2 | Translational Control | ||
| 3 | Cellular Senescence (REACTOME) | ||
Pathways by source for DNAJC2 Gene
3 Reactome pathways for DNAJC2 Gene
1 Cell Signaling Technology pathway for DNAJC2 Gene
Interacting Proteins for DNAJC2 Gene
Selected Interacting proteins:
ENSP00000368565
Q99543-DNJC2_HUMAN
for DNAJC2 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for DNAJC2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006260 | DNA replication | IEA | -- |
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
No data available for SIGNOR curated interactions for DNAJC2 Gene
Transcripts for DNAJC2 Gene
mRNA/cDNA for DNAJC2 Gene
- (9) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (156) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000249270 1846 bps (uc010lix.4)
- ENST00000475065 1952 bps (uc064gra.1)
- ENST00000379263 2167 bps (uc003vbo.4)
- ENST00000492497 2167 bps (uc064grb.1)
- ENST00000464253 1809 bps (uc064grc.1)
Unigene Clusters for DNAJC2 Gene
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-
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| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
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| SP2: | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP6: |
Expression for DNAJC2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Primary Oocyte Primary Follicle
-
Gonad
- Primary Oocyte Primary Follicle
- Bone (Muscoskeletal System)
- Blood (Hematopoietic System)
This gene is overexpressed in Breast (11.6), Testis (9.3), Lymph node (7.1), and Peripheral blood mononuclear cells (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNAJC2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of DNAJC2 Gene:
DNAJC2SOURCE GeneReport for Unigene cluster for DNAJC2 Gene:
Hs.558476mRNA Expression by UniProt/SwissProt for DNAJC2 Gene:
Q99543-DNJC2_HUMAN
Tissue specificity:
Widely expressed.
Evidence on tissue expression from TISSUES for DNAJC2 Gene
- Blood(4.2)
Primer Products
-
OriGene qPCR primer pairs for DNAJC2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC2 Gene
Orthologs for DNAJC2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DNAJC2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DNAJC2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | DNAJC2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Dnajc2 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | DNAJC2 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Dnajc2 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | DNAJC2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DNAJC2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DNAJC2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dnajc2 33 |
|
||
| LOC394933 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | dnajc2 34 33 |
|
OneToOne | |
| Dr.19599 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG10565 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007541 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | dnj-11 34 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ZUO1 36 34 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F03124g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGL339C 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT3G11450 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os04g0377932 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | zuo1 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4829 34 |
|
OneToOne | |
| Cin.2458 33 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU03009 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2458 33 |
|
- Species where no ortholog for DNAJC2 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- 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 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for DNAJC2 Gene
- ENSEMBL:
- Gene Tree for DNAJC2 (if available)
- TreeFam:
- Gene Tree for DNAJC2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DNAJC2: view image
Paralogs for DNAJC2 Gene
(1) SIMAP similar genes for DNAJC2 Gene using alignment to 7 proteins:
- DNJC2_HUMAN
- C9IZ83_HUMAN
- F2Z3H0_HUMAN
- F2Z3N9_HUMAN
- H7C3L7_HUMAN
- Q08AR5_HUMAN
- Q6P5S9_HUMAN
Pseudogenes.org Pseudogenes for DNAJC2 Gene
Variants for DNAJC2 Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000003336 | -- | 103,344,183(-) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000267442 | -- | 103,320,966(-) | G/C | intron_variant | |
| rs1000273187 | -- | 103,332,394(-) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000442108 | -- | 103,315,041(-) | G/A | intron_variant | |
| rs1000465639 | -- | 103,337,974(-) | A/C | genic_upstream_transcript_variant, intron_variant |
Residual Variation Intolerance Score:
22.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.12;
38.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DNAJC2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC2 Gene
Disorders for DNAJC2 Gene
Additional Disease Information for DNAJC2
No disorders were found for DNAJC2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DNAJC2 Gene
Publications for DNAJC2 Gene
- Identification of a novel peptide derived from the M-phase phosphoprotein 11 (MPP11) leukemic antigen recognized by human CD8+ cytotoxic T lymphocytes. (PMID: 20231810) Al Qudaihi G … Dermime S (Hematology/oncology and stem cell therapy 2010) 3 4 22 58
- The chaperones MPP11 and Hsp70L1 form the mammalian ribosome-associated complex. (PMID: 16002468) Otto H … Rospert S (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 58
- Characterization of several leukemia-associated antigens inducing humoral immune responses in acute and chronic myeloid leukemia. (PMID: 12800198) Greiner J … Schmitt M (International journal of cancer 2003) 3 4 22 58
- Identification of novel M phase phosphoproteins by expression cloning. (PMID: 8885239) Matsumoto-Taniura N … Westendorf JM (Molecular biology of the cell 1996) 2 3 4 58
- Transcriptional activation of polycomb-repressed genes by ZRF1. (PMID: 21179169) Richly H … Di Croce L (Nature 2010) 3 4 58
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- Boster Bio Antibodies for DNAJC2
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Sources for DNAJC2 Gene
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- (47) Atlas
- (48) Cell Signaling Technology
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