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DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 [ Homo sapiens (human) ]

Gene ID: 7266, updated on 3-Nov-2024

Summary

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Official Symbol
DNAJC7provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member C7provided by HGNC
Primary source
HGNC:HGNC:12392
See related
Ensembl:ENSG00000168259 MIM:601964; AllianceGenome:HGNC:12392
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
DJ11; DJC7; TPR2; TTC2
Summary
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 chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in brain (RPKM 25.3), lymph node (RPKM 14.6) and 25 other tissues See more
Orthologs
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Genomic context

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See DNAJC7 in Genome Data Viewer
Location:
17q21.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41976435..42017439, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42832931..42873970, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40128453..40169457, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATP citrate lyase Neighboring gene uncharacterized LOC124904005 Neighboring gene MPRA-validated peak2844 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:40066298-40067497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8505 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40085993-40086896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12176 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40091696-40092276 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:40102816-40102967 Neighboring gene outer dynein arm docking complex subunit 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40110957-40111564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40111565-40112170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40112171-40112776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40112777-40113382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40119287-40119844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40119845-40120402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40120403-40120960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12179 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40140463-40140963 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40139962-40140462 Neighboring gene 2',3'-cyclic nucleotide 3' phosphodiesterase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:40162959-40163488 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:40168666-40169865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40180775-40181563 Neighboring gene NFKB inhibitor interacting Ras like 2 Neighboring gene zinc finger protein 385C Neighboring gene chromosome 17 open reading frame 113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8511

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 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. DnaJC7 in Amyotrophic Lateral Sclerosis. Dilliott AA, et al. Int J Mol Sci, 2022 Apr 7. PMID 35456894, Free PMC Article
  2. Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis. Tohnai G, et al. Neurobiol Aging, 2022 May. PMID 35039179
  3. Validation of the pathogenic role of rare DNAJC7 variants in Chinese patients with amyotrophic lateral sclerosis. He J, et al. Neurobiol Aging, 2021 Oct. PMID 34233860
  4. Mutations of DNAJC7 are rare in Chinese amyotrophic lateral sclerosis patients. Sun X, et al. Amyotroph Lateral Scler Frontotemporal Degener, 2021 May. PMID 32897108
  5. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Farhan SMK, et al. Nat Neurosci, 2019 Dec. PMID 31768050, Free PMC Article

See all (172) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS.
    Title: Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS.
  2. DnaJC7 in Amyotrophic Lateral Sclerosis.
    Title: DnaJC7 in Amyotrophic Lateral Sclerosis.
  3. Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.
    Title: Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.
  4. Validation of the pathogenic role of rare DNAJC7 variants in Chinese patients with amyotrophic lateral sclerosis.
    Title: Validation of the pathogenic role of rare DNAJC7 variants in Chinese patients with amyotrophic lateral sclerosis.
  5. Mutations of DNAJC7 are rare in Chinese amyotrophic lateral sclerosis patients.
    Title: Mutations of DNAJC7 are rare in Chinese amyotrophic lateral sclerosis patients.
  6. results highlight DNAJC7 as a novel gene for ALS.
    Title: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
  7. The data from the current study for the first time demonstrated increased serum polyglutamylated DNAJC7 as a potential biomarker for renal cell carcinoma early detection
    Title: Reduced cytosolic carboxypeptidase 6 (CCP6) level leads to accumulation of serum polyglutamylated DNAJC7 protein: A potential biomarker for renal cell carcinoma early detection.
  8. ubiquitin-proteasomal regulation of CCRP and HSP70 are important contributors to the regulation of cytoplasmic CAR levels, and hence the ability of CAR to respond to PB or PB-like inducers
    Title: Coordinated regulation of nuclear receptor CAR by CCRP/DNAJC7, HSP70 and the ubiquitin-proteasome system.
  9. these findings strongly suggest that DnaJC7 participates in p53/MDM2 negative feedback regulatory pathway, and thereby enhancing the stability and activity of p53.
    Title: Co-chaperon DnaJC7/TPR2 enhances p53 stability and activity through blocking the complex formation between p53 and MDM2.
  10. TPR2 exhibited strong interaction with glucocorticoid receptor and progesterone receptors.
    Title: Differential impact of tetratricopeptide repeat proteins on the steroid hormone receptors.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif is identified to have a physical interaction with DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7) at amino acid residues 11-12 and 435-436 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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 heat shock protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chaperone cofactor-dependent protein refolding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein folding TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cellular response to heat TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
dnaJ homolog subfamily C member 7
Names
DnaJ (Hsp40) homolog, subfamily C, member 7
TPR repeat protein 2
tetratricopeptide repeat domain 2
tetratricopeptide repeat protein 2

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_001144766.3 → NP_001138238.1  dnaJ homolog subfamily C member 7 isoform 2

    See identical proteins and their annotated locations for NP_001138238.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC105024, AC125257, AK298860, BQ445927
    Consensus CDS
    CCDS45678.1
    UniProtKB/TrEMBL
    B7Z9W6
    Related
    ENSP00000394327.2, ENST00000426588.7
    Conserved Domains (4) summary
    COG0484
    Location:324 → 413
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    sd00006
    Location:201 → 228
    TPR; TPR repeat [structural motif]
    cl26002
    Location:3 → 302
    TPR_11; TPR repeat
    cl26005
    Location:197 → 297
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

  2. NM_003315.4 → NP_003306.3  dnaJ homolog subfamily C member 7 isoform 1

    See identical proteins and their annotated locations for NP_003306.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC011837, BQ445927, BX647209
    Consensus CDS
    CCDS45677.1
    UniProtKB/Swiss-Prot
    Q7Z784, Q99615
    UniProtKB/TrEMBL
    A0A6I8PU73
    Related
    ENSP00000406463.2, ENST00000457167.9
    Conserved Domains (4) summary
    PLN03088
    Location:253 → 353
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
    COG0484
    Location:380 → 469
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    TIGR00990
    Location:19 → 353
    3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
    sd00006
    Location:257 → 284
    TPR; TPR repeat [structural motif]

RNA

  1. NR_029431.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC105024, BC003601, BQ445927
    Related
    ENST00000588814.5

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    41976435..42017439 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525167.4 → XP_011523469.1  dnaJ homolog subfamily C member 7 isoform X1

    See identical proteins and their annotated locations for XP_011523469.1

    UniProtKB/TrEMBL
    B7Z9W6
    Related
    ENSP00000313311.7, ENST00000316603.12
    Conserved Domains (4) summary
    COG0484
    Location:324 → 413
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    sd00006
    Location:201 → 228
    TPR; TPR repeat [structural motif]
    cl26002
    Location:3 → 302
    TPR_11; TPR repeat
    cl26005
    Location:197 → 297
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

  2. XM_011525169.4 → XP_011523471.1  dnaJ homolog subfamily C member 7 isoform X1

    See identical proteins and their annotated locations for XP_011523471.1

    UniProtKB/TrEMBL
    B7Z9W6
    Related
    ENSP00000501364.1, ENST00000674166.1
    Conserved Domains (4) summary
    COG0484
    Location:324 → 413
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    sd00006
    Location:201 → 228
    TPR; TPR repeat [structural motif]
    cl26002
    Location:3 → 302
    TPR_11; TPR repeat
    cl26005
    Location:197 → 297
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

  3. XM_017024994.3 → XP_016880483.1  dnaJ homolog subfamily C member 7 isoform X1

    UniProtKB/TrEMBL
    B7Z9W6
    Related
    ENSP00000501366.1, ENST00000674252.1
    Conserved Domains (4) summary
    COG0484
    Location:324 → 413
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    sd00006
    Location:201 → 228
    TPR; TPR repeat [structural motif]
    cl26002
    Location:3 → 302
    TPR_11; TPR repeat
    cl26005
    Location:197 → 297
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

RNA

  1. XR_007065438.1 RNA Sequence

  2. XR_001752603.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    42832931..42873970 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317039.1 → XP_054173014.1  dnaJ homolog subfamily C member 7 isoform X1

  2. XM_054317040.1 → XP_054173015.1  dnaJ homolog subfamily C member 7 isoform X1

  3. XM_054317041.1 → XP_054173016.1  dnaJ homolog subfamily C member 7 isoform X1

RNA

  1. XR_008484930.1 RNA Sequence

  2. XR_008484931.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99615.2 GenPept UniProtKB/Swiss-Prot:Q99615

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