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DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 [ Homo sapiens (human) ]

Gene ID: 10049, updated on 10-Apr-2024

Summary

Official Symbol
DNAJB6provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member B6provided by HGNC
Primary source
HGNC:HGNC:14888
See related
Ensembl:ENSG00000105993 MIM:611332; AllianceGenome:HGNC:14888
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
DJ4; MRJ; DnaJ; HSJ2; HHDJ1; HSJ-2; MSJ-1; LGMD1D; LGMD1E; LGMDD1
Summary
This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
Annotation information
Note: We recognize that OMIM uses LGMD1E to refer to the locus on chromosome 7. There are many citations, however, including PubMed 8533766, 15316618, 20682716, and 21376592 which define LGMD1D as the locus on chromosome 7. We are retaining the usage of the HUGO Gene Nomenclature Committee (HGNC). [25 Nov 2014]
Expression
Ubiquitous expression in testis (RPKM 36.6), bone marrow (RPKM 32.4) and 25 other tissues See more
Orthologs
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Genomic context

See DNAJB6 in Genome Data Viewer
Location:
7q36.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (157337004..157417439)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (158524848..158605388)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (157129698..157210133)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ubiquitin protein ligase E3C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157064509-157065277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157065278-157066047 Neighboring gene ribosomal protein L36a pseudogene 30 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157074692-157075645 Neighboring gene uncharacterized LOC124901803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157081913-157082520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157082521-157083126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157084407-157085020 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:157092843-157093017 Neighboring gene Sharpr-MPRA regulatory region 5233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157100891-157101432 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157101433-157101972 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157101973-157102514 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:157102515-157103054 and GRCh37_chr7:157103055-157103596 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157103597-157104136 Neighboring gene Sharpr-MPRA regulatory region 5385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157129146-157129648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157129649-157130152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157133233-157133753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157141921-157142490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26928 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:157166121-157166319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157182939-157183539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157193377-157193935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157194192-157195182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157198555-157199224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157201081-157202080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157202081-157203080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:157203081-157204078 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:157220516-157220681 Neighboring gene MPRA-validated peak6870 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:157225071-157225580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:157234065-157234596 Neighboring gene uncharacterized LOC101927914 Neighboring gene Sharpr-MPRA regulatory region 4962 Neighboring gene MPRA-validated peak6872 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26930 Neighboring gene uncharacterized LOC105375610

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
MedGen: C4721885 OMIM: 603511 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-10-29)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-10-29)

ClinGen Genome Curation Page

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Rev rev The expression of HSP40B6 (DNAJB6) inhibits HIV-1 Rev expression at the posttranscriptional levels, leading to the reduction of HIV-1 RNA accumulation PubMed
Vpr vpr The nuclear localization of HIV-1 Vpr is facilitated by DNAJB6 (MRJ-L) PubMed
capsid gag HSP40B6 (DNAJB6) inhibits HIV-1 production as measured by the level of viral p24 capsid in the culture supernatant. The HSP40B6 (1-97) mutant lacking most of the C-terminal portion is more potent in inhibiting HIV-1 production than its wild-type PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC1152, FLJ42837, MGC117297, DKFZp566D0824

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ATPase activator activity TAS
Traceable Author Statement
more info
 
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables Hsp70 protein binding IEA
Inferred from Electronic Annotation
more info
 
enables heat shock protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein folding chaperone IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein-folding chaperone binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein-folding chaperone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein-folding chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables unfolded protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in chaperone-mediated protein folding IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in chorio-allantoic fusion IEA
Inferred from Electronic Annotation
more info
 
involved_in chorion development IEA
Inferred from Electronic Annotation
more info
 
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
involved_in intermediate filament organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of inclusion body assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of inclusion body assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein folding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
involved_in regulation of protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in syncytiotrophoblast cell differentiation involved in labyrinthine layer development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Z disc IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm 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 membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
dnaJ homolog subfamily B member 6
Names
DnaJ (Hsp40) homolog, subfamily B, member 6
DnaJ-like 2 protein
heat shock protein J2

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.

Genomic

  1. NG_032573.1 RefSeqGene

    Range
    4989..85424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363676.1NP_001350605.1  dnaJ homolog subfamily B member 6 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC006372, AK223601, AK297497, AK301152
    Consensus CDS
    CCDS87571.1
    UniProtKB/TrEMBL
    B4DMJ9, E9PH18
    Related
    ENSP00000396267.1, ENST00000443280.5
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  2. NM_005494.3NP_005485.1  dnaJ homolog subfamily B member 6 isoform b

    See identical proteins and their annotated locations for NP_005485.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and has a distinct 3' UTR, compared to transcript variant 1. The resulting isoform (b) is shorter and distinct, compared to isoform a.
    Source sequence(s)
    AC079306
    Consensus CDS
    CCDS47755.1
    UniProtKB/TrEMBL
    A7UJ17
    Related
    ENSP00000397556.2, ENST00000429029.6
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  3. NM_058246.4NP_490647.1  dnaJ homolog subfamily B member 6 isoform a

    See identical proteins and their annotated locations for NP_490647.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript variant and encodes the longer isoform (a).
    Source sequence(s)
    AC006372, AC079306
    Consensus CDS
    CCDS5946.1
    UniProtKB/Swiss-Prot
    A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
    UniProtKB/TrEMBL
    B4DNN5
    Related
    ENSP00000262177.4, ENST00000262177.9
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    157337004..157417439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715823.3XP_006715886.1  dnaJ homolog subfamily B member 6 isoform X3

    UniProtKB/TrEMBL
    C9J2C4
    Conserved Domains (2) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    pfam00226
    Location:366
    DnaJ; DnaJ domain
  2. XM_005249515.4XP_005249572.1  dnaJ homolog subfamily B member 6 isoform X1

    See identical proteins and their annotated locations for XP_005249572.1

    UniProtKB/TrEMBL
    A0A0J9YX62, B4DNN5
    Related
    ENSP00000488263.1, ENST00000459889.5
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  3. XM_047419698.1XP_047275654.1  dnaJ homolog subfamily B member 6 isoform X2

    UniProtKB/Swiss-Prot
    A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
  4. XM_047419696.1XP_047275652.1  dnaJ homolog subfamily B member 6 isoform X2

    UniProtKB/Swiss-Prot
    A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
  5. XM_047419697.1XP_047275653.1  dnaJ homolog subfamily B member 6 isoform X2

    UniProtKB/Swiss-Prot
    A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
  6. XM_005249516.3XP_005249573.1  dnaJ homolog subfamily B member 6 isoform X1

    See identical proteins and their annotated locations for XP_005249573.1

    UniProtKB/TrEMBL
    A0A0J9YX62, B4DNN5
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  7. XM_047419695.1XP_047275651.1  dnaJ homolog subfamily B member 6 isoform X1

    UniProtKB/TrEMBL
    A0A0J9YX62
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  8. XM_011515704.2XP_011514006.1  dnaJ homolog subfamily B member 6 isoform X1

    See identical proteins and their annotated locations for XP_011514006.1

    UniProtKB/TrEMBL
    A0A0J9YX62, B4DNN5
    Related
    ENSP00000488740.1, ENST00000634080.1
    Conserved Domains (1) summary
    COG0484
    Location:2106
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    158524848..158605388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356975.1XP_054212950.1  dnaJ homolog subfamily B member 6 isoform X3

  2. XM_054356969.1XP_054212944.1  dnaJ homolog subfamily B member 6 isoform X1

    UniProtKB/TrEMBL
    A0A0J9YX62
  3. XM_054356974.1XP_054212949.1  dnaJ homolog subfamily B member 6 isoform X2

    UniProtKB/Swiss-Prot
    A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
  4. XM_054356973.1XP_054212948.1  dnaJ homolog subfamily B member 6 isoform X2

    UniProtKB/Swiss-Prot
    A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6
  5. XM_054356971.1XP_054212946.1  dnaJ homolog subfamily B member 6 isoform X1

    UniProtKB/TrEMBL
    A0A0J9YX62
  6. XM_054356970.1XP_054212945.1  dnaJ homolog subfamily B member 6 isoform X1

    UniProtKB/TrEMBL
    A0A0J9YX62
  7. XM_054356972.1XP_054212947.1  dnaJ homolog subfamily B member 6 isoform X2

    UniProtKB/Swiss-Prot
    A4D232, A8K7D8, A8KAG0, B4DN73, E9PCZ2, O75190, O95806, Q53EN8, Q59EF2, Q6FIC8, Q75MA2, Q9UIK6