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    DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 [ Homo sapiens (human) ]

    Gene ID: 27000, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DNAJC2provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member C2provided by HGNC
    Primary source
    HGNC:HGNC:13192
    See related
    Ensembl:ENSG00000105821 MIM:605502; AllianceGenome:HGNC:13192
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZRF1; ZUO1; MPP11; MPHOSPH11
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 19.0), testis (RPKM 17.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAJC2 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (103312289..103344767, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104626740..104659211, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102952736..102985214, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375434 Neighboring gene ribosomal protein L23a pseudogene 95 Neighboring gene DPY19L2 pseudogene 2 Neighboring gene S100A11 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102921045-102921566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26441 Neighboring gene peptidase, mitochondrial processing subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26442 Neighboring gene ribosomal protein S29 pseudogene 16 Neighboring gene solute carrier family 26 member 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:103021047-103021334 Neighboring gene proteasome 26S subunit, ATPase 2 Neighboring gene Sharpr-MPRA regulatory region 10264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:103086027-103086603 Neighboring gene SLC26A5 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A putative oncogenic role for MPP11 in head and neck squamous cell cancer. Resto VA, et al. Cancer Res, 2000 Oct 1. PMID 11034098
    2. Overexpression of ZRF1 is related to tumor malignant potential and a poor outcome of gastric carcinoma. Imamura T, et al. Carcinogenesis, 2018 Feb 9. PMID 29228320
    3. On-site remodeling at chromatin: How multiprotein complexes are rebuilt during DNA repair and transcriptional activation. Papadopoulou T, et al. Bioessays, 2016 Nov. PMID 27599465
    4. ZRF1 mediates remodeling of E3 ligases at DNA lesion sites during nucleotide excision repair. Gracheva E, et al. J Cell Biol, 2016 Apr 25. PMID 27091446, Free PMC Article
    5. DNAJC2 is reversely regulated by miR‑627‑3p, promoting the proliferation of colorectal cancer. Liu H, et al. Mol Med Rep, 2021 Aug. PMID 34165158, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. p113 isoform encoded by CUX1 circular RNA drives tumor progression via facilitating ZRF1/BRD4 transactivation.
      Title: p113 isoform encoded by CUX1 circular RNA drives tumor progression via facilitating ZRF1/BRD4 transactivation.
    2. DNAJC2 is reversely regulated by miR6273p, promoting the proliferation of colorectal cancer.
      Title: DNAJC2 is reversely regulated by miR‑627‑3p, promoting the proliferation of colorectal cancer.
    3. These findings suggest that ZRF1 plays a crucial role in tumor malignant potential through its overexpression and highlight its usefulness as a prognostic factor and potential therapeutic target in gastric cancer
      Title: Overexpression of ZRF1 is related to tumor malignant potential and a poor outcome of gastric carcinoma.
    4. Unexplored functions of ZRF1-mediated remodeling in replication and double strand break repair are discussed.
      Title: On-site remodeling at chromatin: How multiprotein complexes are rebuilt during DNA repair and transcriptional activation.
    5. In response to UV irradiation, DICER is recruited to chromatin in a ZRF1-mediated manner. The H2A-ubiquitin binding protein ZRF1 and DICER together impact on the chromatin conformation via PARP1.
      Title: DICER and ZRF1 contribute to chromatin decondensation during nucleotide excision repair.
    6. ZRF1 mediates remodeling of this E3 ligase complex directly at the DNA lesion site.
      Title: ZRF1 mediates remodeling of E3 ligases at DNA lesion sites during nucleotide excision repair.
    7. The antibody response to ZRF1 was higher in sera of patients with invasive ductal carcinoma than in sera of patients with other histological types of breast tumors.
      Title: Autoantibody Response to ZRF1 and KRR1 SEREX Antigens in Patients with Breast Tumors of Different Histological Types and Grades.
    8. Zrf1 is transcriptional regulator of neural fate downstream of Id1 in embryonic stem cells.During embryonic stem cell differentiation, Id1 levels decrease allowing Zrf1 to activate neural genes.
      Title: Direct interaction between Id1 and Zrf1 controls neural differentiation of embryonic stem cells.
    9. our data reveal that ZRF1 is a key transcriptional regulator in leukemia progression
      Title: ZRF1 controls the retinoic acid pathway and regulates leukemogenic potential in acute myeloid leukemia.
    10. Zrf1 plays an essential role in neural progenitor cell generation and maintenance
      Title: Zrf1 is required to establish and maintain neural progenitor identity.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase activator activity TAS
    Traceable Author Statement
    more info
    		  
    enables Hsp70 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Hsp70 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-modified histone reader activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 'de novo' cotranslational protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 'de novo' cotranslational protein folding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cellular response to heat TAS
    Traceable Author Statement
    more info
    		  
    involved_in regulation of translational fidelity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dnaJ homolog subfamily C member 2
    Names
    DnaJ (Hsp40) homolog, subfamily C, member 2
    M-phase phosphoprotein 11
    zuotin-related factor 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001129887.3 → NP_001123359.1  dnaJ homolog subfamily C member 2 isoform 2

      See identical proteins and their annotated locations for NP_001123359.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC004668, AI140595, X98260
      Consensus CDS
      CCDS47679.1
      UniProtKB/Swiss-Prot
      Q99543
      Related
      ENSP00000249270.7, ENST00000249270.11
      Conserved Domains (4) summary
      smart00717
      Location:498 → 549
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      COG5269
      Location:75 → 361
      ZUO1; Ribosome-associated chaperone zuotin [Translation, ribosomal structure and biogenesis / Posttranslational modification, protein turnover, chaperones]
      cd00167
      Location:500 → 547
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00226
      Location:88 → 158
      DnaJ; DnaJ domain

    2. NM_001362667.2 → NP_001349596.1  dnaJ homolog subfamily C member 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in its 5' UTR, resulting in the use of a downstream start codon relative to variant 1. The encoded protein (isoform 3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AI140595, BC000859, BC056682, BX279826, DA691752
      Conserved Domains (3) summary
      COG5269
      Location:1 → 294
      ZUO1; Ribosome-associated chaperone zuotin [Translation, ribosomal structure and biogenesis / Posttranslational modification, protein turnover, chaperones]
      cd00167
      Location:479 → 526
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam16717
      Location:270 → 346
      RAC_head; Ribosome-associated complex head domain

    3. NM_001362668.2 → NP_001349597.1  dnaJ homolog subfamily C member 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in its 5' UTR, resulting in the use of a downstream start codon relative to variant 1. The encoded protein (isoform 3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AI140595, BC000859, BC056682, BX279826, DA691752
      Conserved Domains (3) summary
      cd00167
      Location:407 → 454
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam16717
      Location:198 → 274
      RAC_head; Ribosome-associated complex head domain
      cl28246
      Location:1 → 222
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    4. NM_014377.3 → NP_055192.1  dnaJ homolog subfamily C member 2 isoform 1

      See identical proteins and their annotated locations for NP_055192.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI140595, AI621015, BC000859, BC012376, DA272314, DA691752, X98260
      Consensus CDS
      CCDS43628.1
      UniProtKB/Swiss-Prot
      A4VCI0, Q99543, Q9BVX1
      Related
      ENSP00000368565.3, ENST00000379263.8
      Conserved Domains (5) summary
      smart00717
      Location:551 → 602
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      COG5269
      Location:75 → 368
      ZUO1; Ribosome-associated chaperone zuotin [Translation, ribosomal structure and biogenesis / Posttranslational modification, protein turnover, chaperones]
      cd00167
      Location:553 → 600
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam00226
      Location:88 → 158
      DnaJ; DnaJ domain
      pfam16717
      Location:349 → 420
      RAC_head; Ribosome-associated complex head domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      103312289..103344767 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516030.3 → XP_011514332.1  dnaJ homolog subfamily C member 2 isoform X1

      Conserved Domains (3) summary
      COG5269
      Location:2 → 165
      ZUO1; Ribosome-associated chaperone zuotin [Translation, ribosomal structure and biogenesis / Posttranslational modification, protein turnover, chaperones]
      cd00167
      Location:350 → 397
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam16717
      Location:141 → 217
      RAC_head; Ribosome-associated complex head domain

    2. XM_047420191.1 → XP_047276147.1  dnaJ homolog subfamily C member 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      104626740..104659211 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357878.1 → XP_054213853.1  dnaJ homolog subfamily C member 2 isoform X1

    2. XM_054357877.1 → XP_054213852.1  dnaJ homolog subfamily C member 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99543.4 GenPept UniProtKB/Swiss-Prot:Q99543

    Gene LinkOut

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