Human Gene DNAJB2 (ENST00000336576.10_10) from GENCODE V47lift37
  Description: DnaJ heat shock protein family (Hsp40) member B2, transcript variant 2 (from RefSeq NM_006736.6)
Gencode Transcript: ENST00000336576.10_10
Gencode Gene: ENSG00000135924.17_15
Transcript (Including UTRs)
   Position: hg19 chr2:220,144,088-220,151,617 Size: 7,530 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr2:220,144,556-220,149,709 Size: 5,154 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:220,144,088-220,151,617)mRNA (may differ from genome)Protein (324 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DNJB2_HUMAN
DESCRIPTION: RecName: Full=DnaJ homolog subfamily B member 2; AltName: Full=DnaJ protein homolog 1; AltName: Full=Heat shock 40 kDa protein 3; AltName: Full=Heat shock protein J1; Short=HSJ-1;
TISSUE SPECIFICITY: Brain (neuronal layers). Weakly, in skeletal muscle and spleen.
SIMILARITY: Contains 1 J domain.
SIMILARITY: Contains 2 UIM (ubiquitin-interacting motif) repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNAJB2
Diseases sorted by gene-association score: spinal muscular atrophy, distal, autosomal recessive, 5* (1650), charcot-marie-tooth disease, axonal, type 2t* (294), charcot-marie-tooth disease type 2t* (247), roussy-levy syndrome* (121), charcot-marie-tooth disease* (101), charcot-marie-tooth disease, type 2r (10), charcot-marie-tooth disease, recessive intermediate d (10), spastic paraplegia 55, autosomal recessive (8), charcot-marie-tooth disease type 2a2 (8), charcot-marie-tooth disease, axonal, type 2k (8), charcot-marie-tooth disease, axonal, type 2p (8), charcot-marie-tooth disease, axonal, type 2h (7), charcot-marie-tooth disease, type 2b2 (7), charcot-marie-tooth disease, type 2b1 (7), spastic paraplegia 46, autosomal recessive (7), spinal and bulbar muscular atrophy of kennedy (7), amyotrophic lateral sclerosis type 5 (6), charcot-marie-tooth disease intermediate type (6), spinal muscular atrophy (5), hereditary neuropathies (5), charcot-marie-tooth disease, axonal, type 2s (4), charcot-marie-tooth disease, type 2e (1), amyotrophic lateral sclerosis 1 (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 110.25 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 2190.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -90.80189-0.480 Picture PostScript Text
3' UTR -864.901908-0.453 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001623 - DnaJ_N
IPR018253 - Heat_shock_DnaJ_CS
IPR003095 - Hsp_DnaJ
IPR003903 - Ubiquitin-int_motif

Pfam Domains:
PF00226 - DnaJ domain
PF02809 - Ubiquitin interaction motif

SCOP Domains:
46565 - Chaperone J-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2LGW - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P25686
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001671 ATPase activator activity
GO:0005515 protein binding
GO:0030544 Hsp70 protein binding
GO:0031593 polyubiquitin binding
GO:0031625 ubiquitin protein ligase binding
GO:0051082 unfolded protein binding
GO:0051087 chaperone binding
GO:0070628 proteasome binding

Biological Process:
GO:0006986 response to unfolded protein
GO:0008285 negative regulation of cell proliferation
GO:0030308 negative regulation of cell growth
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0031396 regulation of protein ubiquitination
GO:0031398 positive regulation of protein ubiquitination
GO:0032091 negative regulation of protein binding
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032781 positive regulation of ATPase activity
GO:0032880 regulation of protein localization
GO:0042026 protein refolding
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0061077 chaperone-mediated protein folding
GO:0090084 negative regulation of inclusion body assembly
GO:0090086 negative regulation of protein deubiquitination
GO:1903644 regulation of chaperone-mediated protein folding

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0016234 inclusion body
GO:0031227 intrinsic component of endoplasmic reticulum membrane
GO:0031965 nuclear membrane
GO:0000502 proteasome complex


-  Descriptions from all associated GenBank mRNAs
  AK312723 - Homo sapiens cDNA, FLJ93128, Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), mRNA.
AK293888 - Homo sapiens cDNA FLJ57912 complete cds, highly similar to DnaJ homolog subfamily B member 2.
BC011609 - Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2, mRNA (cDNA clone MGC:3506 IMAGE:3619734), complete cds.
JD264976 - Sequence 246000 from Patent EP1572962.
BC040494 - Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2, mRNA (cDNA clone IMAGE:5297011), with apparent retained intron.
AK292761 - Homo sapiens cDNA FLJ76633 complete cds, highly similar to Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2, transcript variant 1, mRNA.
AK289626 - Homo sapiens cDNA FLJ78532 complete cds, highly similar to Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), mRNA.
BC047056 - Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2, mRNA (cDNA clone MGC:35384 IMAGE:5185009), complete cds.
S37374 - Homo sapiens HSJ1b (HSJ1) mRNA, complete cds; alternatively spliced.
S37375 - Homo sapiens HSJ1a (HSJ1) mRNA, complete cds; alternatively spliced.
CU690366 - Synthetic construct Homo sapiens gateway clone IMAGE:100021129 5' read DNAJB2 mRNA.
KJ905784 - Synthetic construct Homo sapiens clone ccsbBroadEn_15454 DNAJB2 gene, encodes complete protein.
HQ447139 - Synthetic construct Homo sapiens clone IMAGE:100070427; CCSB006133_01 DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2) gene, encodes complete protein.
KJ891402 - Synthetic construct Homo sapiens clone ccsbBroadEn_00796 DNAJB2 gene, encodes complete protein.
AB590657 - Synthetic construct DNA, clone: pFN21AB8114, Homo sapiens DNAJB2 gene for DnaJ (Hsp40) homolog, subfamily B, member 2, without stop codon, in Flexi system.
GQ129430 - Synthetic construct Homo sapiens clone HAIB:100068716; DKFZo004G0636 DnaJ (Hsp40) homolog, subfamily B, member 2 protein (DNAJB2) gene, partial cds.
EU831577 - Synthetic construct Homo sapiens clone HAIB:100066606; DKFZo004H0818 DnaJ (Hsp40) homolog, subfamily B, member 2 protein (DNAJB2) gene, encodes complete protein.
EU831490 - Synthetic construct Homo sapiens clone HAIB:100066519; DKFZo008H0817 DnaJ (Hsp40) homolog, subfamily B, member 2 protein (DNAJB2) gene, encodes complete protein.
GQ129431 - Synthetic construct Homo sapiens clone HAIB:100068619; DKFZo008G0635 DnaJ (Hsp40) homolog, subfamily B, member 2 protein (DNAJB2) gene, complete cds.
BT007088 - Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 mRNA, complete cds.
DQ587711 - Homo sapiens piRNA piR-54823, complete sequence.
AK296297 - Homo sapiens cDNA FLJ57513 complete cds, highly similar to Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), mRNA.
DQ573398 - Homo sapiens piRNA piR-41510, complete sequence.
JD076028 - Sequence 57052 from Patent EP1572962.
JD483463 - Sequence 464487 from Patent EP1572962.
JD541012 - Sequence 522036 from Patent EP1572962.
JD232091 - Sequence 213115 from Patent EP1572962.
JD199815 - Sequence 180839 from Patent EP1572962.
JD141610 - Sequence 122634 from Patent EP1572962.
JD369182 - Sequence 350206 from Patent EP1572962.
JD346882 - Sequence 327906 from Patent EP1572962.
JD443641 - Sequence 424665 from Patent EP1572962.
JD234444 - Sequence 215468 from Patent EP1572962.
JD526843 - Sequence 507867 from Patent EP1572962.
JD512280 - Sequence 493304 from Patent EP1572962.
JD498728 - Sequence 479752 from Patent EP1572962.
JD435665 - Sequence 416689 from Patent EP1572962.
JD409857 - Sequence 390881 from Patent EP1572962.
JD241535 - Sequence 222559 from Patent EP1572962.
JD203344 - Sequence 184368 from Patent EP1572962.
JD519234 - Sequence 500258 from Patent EP1572962.
JD119505 - Sequence 100529 from Patent EP1572962.
JD124766 - Sequence 105790 from Patent EP1572962.
JD439794 - Sequence 420818 from Patent EP1572962.
JD055513 - Sequence 36537 from Patent EP1572962.
JD055514 - Sequence 36538 from Patent EP1572962.
JD069407 - Sequence 50431 from Patent EP1572962.
JD216937 - Sequence 197961 from Patent EP1572962.
JD220555 - Sequence 201579 from Patent EP1572962.
JD164279 - Sequence 145303 from Patent EP1572962.
JD492280 - Sequence 473304 from Patent EP1572962.
JD140999 - Sequence 122023 from Patent EP1572962.
JD122114 - Sequence 103138 from Patent EP1572962.
JD294373 - Sequence 275397 from Patent EP1572962.
JD102349 - Sequence 83373 from Patent EP1572962.
JD178583 - Sequence 159607 from Patent EP1572962.
JD202177 - Sequence 183201 from Patent EP1572962.
JD477173 - Sequence 458197 from Patent EP1572962.
JD448948 - Sequence 429972 from Patent EP1572962.
JD346991 - Sequence 328015 from Patent EP1572962.
JD209545 - Sequence 190569 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9P6, DNAJB2 , DNJB2_HUMAN, ENST00000336576.1, ENST00000336576.2, ENST00000336576.3, ENST00000336576.4, ENST00000336576.5, ENST00000336576.6, ENST00000336576.7, ENST00000336576.8, ENST00000336576.9, HSJ1 , HSPF3 , NM_006736, P25686, Q53QD7, Q8IUK1, Q8IUK2, Q96F52, uc317unz.1, uc317unz.2
UCSC ID: ENST00000336576.10_10
RefSeq Accession: NM_006736.6
Protein: P25686 (aka DNJB2_HUMAN or DJB2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAJB2:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.