DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJB2provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member B2provided by HGNC
Primary source: HGNC:HGNC:5228
See related: Ensembl:ENSG00000135924 MIM:604139; AllianceGenome:HGNC:5228
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: HSJ1; CMT2T; DSMA5; HMNR5; HSJ-1; HSPF3
Summary: This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]
Expression: Ubiquitous expression in brain (RPKM 54.3), testis (RPKM 27.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (219279366..219286895)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (219764122..219771651)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (220144088..220151617)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The heat shock protein DNAJB2 as a novel biomarker for essential thrombocythemia diagnosis associated with immune infiltration.
Title: The heat shock protein DNAJB2 as a novel biomarker for essential thrombocythemia diagnosis associated with immune infiltration.
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.
Title: DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.
DNAJB2 expression in healthy human palatal mucosa is strongly negatively correlated with serum cotinine levels
Title: Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.
Study describes the identi fi cation of the fi rst deletion reported at the DNAJB2 locus, further expanding its phenotypic and genotypic spectrums as well as its disease-associated mechanisms with spinal muscular atrophy and parkinsonism.
Title: Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.
Our results disclose a novel interplay between ubiquitin- and phosphorylation-dependent signalling, and represent the first report of a regulatory mechanism for UIM-dependent function. They also suggest that CK2 inhibitors could release the full neuroprotective potential of HSJ1, and deserve future interest as therapeutic strategies for neurodegenerative disease.
Title: Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.
The results of this study confirm that HSJ1 mutations are a rare but detectable cause of autosomal recessive dHMN and CMT2.
Title: HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
HSJ1a acts on mutant SOD1 through a combination of chaperone, co-chaperone and pro-ubiquitylation activity.
Title: Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.
a mutation causing a loss-of-function of HSJ1 is linked to a pure lower motor neuron disease, strongly suggesting that HSJ1 also plays an important and specific role in motor neurons.
Title: A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
Data show that DNAJB2 is expressed in skeletal muscle at the neuromuscular junction of normal fibers, in the cytoplasm and membrane of regenerating fibers, and in protein aggregates and vacuoles in protein aggregate myopathies.
Title: DNAJB2 expression in normal and diseased human and mouse skeletal muscle.
Observational study of gene-disease association. (HuGE Navigator)
Title: Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease type 2 MedGen: C0270914 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs
Neuronopathy, distal hereditary motor, autosomal recessive 5 MedGen: C4749918 OMIM: 614881 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif is identified to have a physical interaction with DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Vpr	vpr	HIV-1 Vpr downregulates DNAJ protein homolog HSJ1 in PHA-stimulated PBMC	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cda0vf12 (e-PCR)
- UniSTS:50458

G67373 (e-PCR)
- UniSTS:186402

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase activator activity	IDA Inferred from Direct Assay more info	PubMed
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
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-modified protein reader activity	IDA Inferred from Direct Assay 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 ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in chaperone-mediated protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in chaperone-mediated protein folding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell growth	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of inclusion body assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron cellular homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein refolding	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of chaperone-mediated protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to unfolded protein	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	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	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily B member 2

Names: DnaJ (Hsp40) homolog, subfamily B, member 2; dnaJ protein homolog 1; heat shock 40 kDa protein 3; heat shock protein J1; heat shock protein, neuronal DNAJ-like 1

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

NG_029553.1 RefSeqGene

Range

5049..12578

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001039550.2 → NP_001034639.1 dnaJ homolog subfamily B member 2 isoform a

See identical proteins and their annotated locations for NP_001034639.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform a.

Source sequence(s)

AC114803, BC047056

Consensus CDS

CCDS46519.1

UniProtKB/TrEMBL

C9JXB9

Related

ENSP00000375936.4, ENST00000392086.8

Conserved Domains (1) summary

COG0484
Location:3 → 110

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_006736.6 → NP_006727.2 dnaJ homolog subfamily B member 2 isoform b

See identical proteins and their annotated locations for NP_006727.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) is alternatively spliced at the 3' end compared to variant 1. This results in a longer isoform (b) with a distinct C-terminus compared to isoform a.

Source sequence(s)

AC114803, BC047056, BF795662, BT007088, BX478051, CA392563

Consensus CDS

CCDS2439.1

UniProtKB/Swiss-Prot

A8K9P6, P25686, Q53QD7, Q8IUK1, Q8IUK2, Q96F52

UniProtKB/TrEMBL

A8K0R1

Related

ENSP00000338019.5, ENST00000336576.10

Conserved Domains (1) summary

COG0484
Location:3 → 110

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]