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    DNAJB12 DnaJ heat shock protein family (Hsp40) member B12 [ Homo sapiens (human) ]

    Gene ID: 54788, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DNAJB12provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member B12provided by HGNC
    Primary source
    HGNC:HGNC:14891
    See related
    Ensembl:ENSG00000148719 MIM:608376; AllianceGenome:HGNC:14891
    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
    DJ10
    Summary
    DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in testis (RPKM 9.5), kidney (RPKM 9.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (72332863..72354919, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (73203895..73225949, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74092621..74114677, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74030711-74031211 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74032179-74032702 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74032703-74033226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:74035325-74035848 Neighboring gene DDIT4 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74046277-74046777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2471 Neighboring gene Sharpr-MPRA regulatory region 1217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2472 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74057879-74058535 Neighboring gene DNA damage inducible transcript 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:74069939-74070924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3540 Neighboring gene Sharpr-MPRA regulatory region 14427 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:74081426-74082625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74084563-74085524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3549 Neighboring gene mitochondrial calcium uptake 1 Neighboring gene RNA, U6 small nuclear 805, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74182311-74183044 Neighboring gene sorting nexin 19 pseudogene 4

    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. Endoplasmic reticulum stress-induced degradation of DNAJB12 stimulates BOK accumulation and primes cancer cells for apoptosis. Sopha P, et al. J Biol Chem, 2017 Jul 14. PMID 28536268, Free PMC Article
    2. Expression of DNAJB12 or DNAJB14 causes coordinate invasion of the nucleus by membranes associated with a novel nuclear pore structure. Goodwin EC, et al. PLoS One, 2014. PMID 24732912, Free PMC Article
    3. A novel ER J-protein DNAJB12 accelerates ER-associated degradation of membrane proteins including CFTR. Yamamoto YH, et al. Cell Struct Funct, 2010. PMID 21150129
    4. The endoplasmic reticulum-associated Hsp40 DNAJB12 and Hsc70 cooperate to facilitate RMA1 E3-dependent degradation of nascent CFTRDeltaF508. Grove DE, et al. Mol Biol Cell, 2011 Feb 1. PMID 21148293, Free PMC Article
    5. The E3 Ubiquitin Ligase Ring Finger Protein 5 Ameliorates NASH Through Ubiquitin-Mediated Degradation of 3-Hydroxy-3-Methylglutaryl CoA Reductase Degradation Protein 1. Yang Q, et al. Hepatology, 2021 Dec. PMID 34272738

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNAJB12 and DNJB14 are non-redundant Hsp40 redox chaperones involved in endoplasmic reticulum protein reflux.
      Title: DNAJB12 and DNJB14 are non-redundant Hsp40 redox chaperones involved in endoplasmic reticulum protein reflux.
    2. ER-located J-protein chaperones were identified as key regulators for the iogenesis and physiological function of ERG K+ channels. They regulate two distinct aspects of K+ channel biogenesis, the stabilization and assembly of channel subunits.
      Title: Tetrameric Assembly of K(+) Channels Requires ER-Located Chaperone Proteins.
    3. Data suggest that endoplasmic reticulum (ER) stress-induced apoptosis in hepatoma cells is regulated by highly labile and ER-associated BCL-2 family member BOK, which is controlled at level of protein stability by ER-associated degradation components; DNAJB12 is required in hepatoma cells to maintain BOK at low levels and suppress ER stress. (DNAJB12 = DnaJ (Hsp40) homolog, subfamily B, member 12)
      Title: Endoplasmic reticulum stress-induced degradation of DNAJB12 stimulates BOK accumulation and primes cancer cells for apoptosis.
    4. Over-expression of DNAJB12 or DNAJB14 causes the formation of elaborate membranous structures within cell nuclei, designated DJANGOS for DNAJ-associated nuclear globular structures.
      Title: Expression of DNAJB12 or DNAJB14 causes coordinate invasion of the nucleus by membranes associated with a novel nuclear pore structure.
    5. JB12 cooperates with cytosolic Hsc70 and the ubiquitin ligase RMA1 to target CFTR and CFTRDeltaF508 for degradation.
      Title: The endoplasmic reticulum-associated Hsp40 DNAJB12 and Hsc70 cooperate to facilitate RMA1 E3-dependent degradation of nascent CFTRDeltaF508.
    6. DNAJB12 is a novel mammalian ER-localized J-protein that plays a vital role in the quality control of membrane proteins
      Title: A novel ER J-protein DNAJB12 accelerates ER-associated degradation of membrane proteins including CFTR.
    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

    • DKFZp586B2023

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 
    Process Evidence Code Pubs
    involved_in ERAD pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to misfolded protein IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to misfolded protein IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chaperone cofactor-dependent protein refolding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chaperone cofactor-dependent protein refolding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    dnaJ homolog subfamily B member 12
    Names
    DnaJ (Hsp40) homolog, subfamily B, member 12

    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_001002762.5 → NP_001002762.3  dnaJ homolog subfamily B member 12 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2 and 4 encode the same protein.
      Source sequence(s)
      AC091769, AL833358, BC011812, BC064920, DC397260
      Consensus CDS
      CCDS7316.3
      UniProtKB/Swiss-Prot
      B7Z7I3, Q9H6H0, Q9NXW2
      UniProtKB/TrEMBL
      J3KPS0
      Related
      ENSP00000345575.3, ENST00000338820.7
      Conserved Domains (2) summary
      pfam09320
      Location:268 → 368
      DUF1977; Domain of unknown function (DUF1977)
      cl28246
      Location:110 → 236
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    2. NM_001365080.3 → NP_001352009.1  dnaJ homolog subfamily B member 12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC091769
      UniProtKB/TrEMBL
      J3KPS0
      Conserved Domains (2) summary
      pfam09320
      Location:268 → 368
      DUF1977; Domain of unknown function (DUF1977)
      cl28246
      Location:110 → 236
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    3. NM_001365081.3 → NP_001352010.1  dnaJ homolog subfamily B member 12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC091769
      Consensus CDS
      CCDS7316.3
      UniProtKB/Swiss-Prot
      B7Z7I3, Q9H6H0, Q9NXW2
      UniProtKB/TrEMBL
      J3KPS0
      Conserved Domains (2) summary
      pfam09320
      Location:268 → 368
      DUF1977; Domain of unknown function (DUF1977)
      cl28246
      Location:110 → 236
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    4. NM_017626.7 → NP_060096.4  dnaJ homolog subfamily B member 12 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1, 2 and 4 encode the same protein.
      Source sequence(s)
      AL833358, BC064920, DC397260
      Consensus CDS
      CCDS7316.3
      UniProtKB/Swiss-Prot
      B7Z7I3, Q9H6H0, Q9NXW2
      UniProtKB/TrEMBL
      J3KPS0
      Related
      ENSP00000403313.2, ENST00000444643.8
      Conserved Domains (2) summary
      pfam09320
      Location:268 → 368
      DUF1977; Domain of unknown function (DUF1977)
      cl28246
      Location:110 → 236
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    RNA

    1. NR_157570.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091769

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      72332863..72354919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      73203895..73225949 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXW2.5 GenPept UniProtKB/Swiss-Prot:Q9NXW2

    Gene LinkOut

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

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