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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
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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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