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    DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 [ Homo sapiens (human) ]

    Gene ID: 3338, updated on 3-Apr-2024

    Summary

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    Official Symbol
    DNAJC4provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member C4provided by HGNC
    Primary source
    HGNC:HGNC:5271
    See related
    Ensembl:ENSG00000110011 MIM:604189; AllianceGenome:HGNC:5271
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSPF2; MCG18; DANJC4
    Summary
    Predicted to be involved in response to unfolded protein. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 43.6), spleen (RPKM 17.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64230432..64234281)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64220128..64224226)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63997904..64001753)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene FERM domain containing kindlin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63992564-63993286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63993887-63994406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63994407-63994924 Neighboring gene tRNA phosphotransferase 1 Neighboring gene uncharacterized LOC124902687 Neighboring gene nudix hydrolase 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3467 Neighboring gene vascular endothelial growth factor B Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64007574-64008476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64008477-64009377 Neighboring gene Uncharacterized protein LOC114841035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64010280-64011180 Neighboring gene FKBP prolyl isomerase 2

    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. Characterisation of a new human and murine member of the DnaJ family of proteins. Silins G, et al. Biochem Biophys Res Commun, 1998 Feb 4. PMID 9473517
    2. Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature. Ohtsuka K, et al. Cell Stress Chaperones, 2000 Apr. PMID 11147971, Free PMC Article
    3. Regulation of epidermal growth factor receptor trafficking by lysine deacetylase HDAC6. Deribe YL, et al. Sci Signal, 2009 Dec 22. PMID 20029029
    4. Huntingtin interacting proteins are genetic modifiers of neurodegeneration. Kaltenbach LS, et al. PLoS Genet, 2007 May 11. PMID 17500595, Free PMC Article
    5. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC19482, MGC57189, MGC71863

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein folding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to unfolded protein TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dnaJ homolog subfamily C member 4
    Names
    DnaJ (Hsp40) homolog, subfamily C, member 4
    dnaJ-like protein HSPF2
    heat shock 40kD protein 2
    multiple endocrine neoplasia type 1 candidate protein number 18

    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_001307980.1 → NP_001294909.1  dnaJ homolog subfamily C member 4 isoform 1

      See identical proteins and their annotated locations for NP_001294909.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF036874, AP001453, BC032137, BC044584
      Consensus CDS
      CCDS76424.1
      UniProtKB/TrEMBL
      J3KNJ8, Q86VG4
      Related
      ENSP00000320548.5, ENST00000321460.5
      Conserved Domains (1) summary
      pfam00226
      Location:34 → 96
      DnaJ; DnaJ domain

    2. NM_001307981.1 → NP_001294910.1  dnaJ homolog subfamily C member 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site at an internal exon. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AP001453, BC044584, BC051008
      UniProtKB/TrEMBL
      Q86VG4
      Conserved Domains (1) summary
      pfam00226
      Location:34 → 96
      DnaJ; DnaJ domain

    3. NM_005528.4 → NP_005519.2  dnaJ homolog subfamily C member 4 isoform 3

      See identical proteins and their annotated locations for NP_005519.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' and 3' UTRs and uses alternate splice sites in the 3' coding region, resulting in a frameshift and novel 3' coding region compared to variant 1. It encodes isoform 3, which is shorter than and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC053947
      Consensus CDS
      CCDS41666.1
      UniProtKB/Swiss-Prot
      O14716, Q9NNZ3
      Related
      ENSP00000486499.2, ENST00000628077.3
      Conserved Domains (1) summary
      pfam00226
      Location:34 → 96
      DnaJ; DnaJ domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64230432..64234281
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426865.1 → XP_047282821.1  dnaJ homolog subfamily C member 4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64220128..64224226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368615.1 → XP_054224590.1  dnaJ homolog subfamily C member 4 isoform X2

    2. XM_054368617.1 → XP_054224592.1  dnaJ homolog subfamily C member 4 isoform X3

      UniProtKB/Swiss-Prot
      O14716, Q9NNZ3

    3. XM_054368616.1 → XP_054224591.1  dnaJ homolog subfamily C member 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NNZ3.1 GenPept UniProtKB/Swiss-Prot:Q9NNZ3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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