Human Gene DNAJB2 (ENST00000336576.10_10) from GENCODE V47lift37

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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 Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Other Names	GeneReviews	Model Information	Methods

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 Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid 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 D013749 Tetrachlorodibenzodioxin D016604 Aflatoxin B1 D001564 Benzo(a)pyrene D001554 Benzene D002922 Ciguatoxins D016572 Cyclosporine D004041 Dietary Fats D004237 Diuron D004958 Estradiol C568608 PCI 5002 D011794 Quercetin D012524 Sarin D015032 Zinc C006632 arsenic trioxide C044887 beta-methylcholine C515055 darinaparsin C029424 hydrazine C482199 lipopolysaccharide, E coli O55-B5 C041786 palm oil C006253 pirinixic acid C031280 pyrazole C057693 troglitazone C080163 trovafloxacin

Common Gene Haplotype Alleles


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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


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-90.80	189	-0.480	Picture	PostScript	Text
3' UTR	-864.90	1908	-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


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

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


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Methods, Credits, and Use Restrictions


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