DNAJB2 - DnaJ heat shock protein family (Hsp40) member B2 Gene

Also Known as HSJ1; CMT2T; DSMA5; HSJ-1; HSPF3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3300

About DNAJB2

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,279,366-219,286,895 (from NCBI)

This gene has 20 transcripts (splice variants), 152 orthologues, 11 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 54.3), testis (RPKM 27.3) and 25 other tissues.

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]

DNAJB2 Products (2)

mRNA	Protein	Name
NM_001039550.2	NP_001034639.1	dnaJ homolog subfamily B member 2 isoform a
NM_006736.6	NP_006727.2	dnaJ homolog subfamily B member 2 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase activator activity	IDA IDA: Inferred from direct assay	7957263	GOA
enables Hsp70 protein binding	IDA IDA: Inferred from direct assay	21625540	GOA
enables Hsp70 protein binding	IPI IPI: Inferred from physical interaction	15936278	GOA
enables polyubiquitin modification-dependent protein binding	IDA IDA: Inferred from direct assay	15936278	GOA
enables proteasome binding	IDA IDA: Inferred from direct assay	15936278	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12754272	GOA
enables protein serine/threonine kinase binding	IPI IPI: Inferred from physical interaction	28031292	GOA
enables protein-folding chaperone binding	IPI IPI: Inferred from physical interaction	21231916	GOA
enables ubiquitin binding	IDA IDA: Inferred from direct assay	28031292	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	20889486	GOA
enables ubiquitin-modified protein reader activity	IDA IDA: Inferred from direct assay	28031292	GOA
enables unfolded protein binding	IDA IDA: Inferred from direct assay	21231916	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ERAD pathway	IDA IDA: Inferred from direct assay	15936278	GOA
involved in chaperone-mediated protein folding	IMP IMP: Inferred from mutant phenotype	24023695	GOA
involved in negative regulation of cell growth	IGI IGI: Inferred from genetic interaction	9553041	GOA
involved in negative regulation of cell population proliferation	IGI IGI: Inferred from genetic interaction	9553041	GOA
involved in negative regulation of inclusion body assembly	IDA IDA: Inferred from direct assay	15936278	GOA
involved in negative regulation of inclusion body assembly	IMP IMP: Inferred from mutant phenotype	20889486	GOA
involved in negative regulation of protein binding	IDA IDA: Inferred from direct assay	7957263	GOA
involved in negative regulation of protein deubiquitination	IDA IDA: Inferred from direct assay	15936278	GOA
involved in positive regulation of ATP-dependent activity	IDA IDA: Inferred from direct assay	7957263	GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	15936278	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	15936278	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	21625540	GOA
involved in protein refolding	IDA IDA: Inferred from direct assay	21231916	GOA
involved in regulation of chaperone-mediated protein folding	IDA IDA: Inferred from direct assay	7957263	GOA
involved in regulation of protein localization	IMP IMP: Inferred from mutant phenotype	20889486	GOA
involved in regulation of protein ubiquitination	IMP IMP: Inferred from mutant phenotype	24023695	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	12754272	GOA
located in cytosol	IDA IDA: Inferred from direct assay	21231916	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	12754272	GOA
located in inclusion body	IDA IDA: Inferred from direct assay	15936278	GOA
NOT located in nucleus	IDA IDA: Inferred from direct assay	12754272	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12754272	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	28031292	GOA
part of proteasome complex	IDA IDA: Inferred from direct assay	15936278	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNAJB2 Protein Structure

DnaJ

0
100
200
300
324 a.a.

Protein Preferred Names	Protein Names
dnaJ homolog subfamily B member 2	DnaJ (Hsp40) homolog, subfamily B, member 2

Related Diseases

Diseases	Alias
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5	DSMA5 Distal Spinal Muscular Atrophy, Autosomal Recessive, 5 Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 5
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	Dnajb2-Related Cmt2
Charcot-Marie-Tooth Disease, Axonal, Type 2t	CMT2T Charcot-Marie-Tooth Disease Axonal Type 2t Charcot-Marie-Tooth Neuropathy, Type 2t Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t Ar-Cmt2t Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy Type 2t Charcot-Marie-Tooth Disease Type 2t Mme-Related Autosomal Dominant Cmt2 Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Disease 2t Charcot-Marie-Tooth Neuropathy Axonal Type 2t
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	CMTX1 Cmtx Charcot-Marie-Tooth Disease X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 X-Linked Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked Cmt1x X-Linked Charcot-Marie-Tooth Disease Type 1 X-Linked Hereditary Motor And Sensory Neuropathy Hereditary Motor And Sensory Neuropathy, X-Linked Hmsn, X-Linked Charcot-Marie-Tooth Neuropathy, X-Linked, 1 Cmt2, Formerly Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy X-Linked 1 Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked Hereditary Motor And Sensory Neuropathy X-Linked Hmsn X-Linked Charcot-Marie-Tooth, X-Linked Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1 Charcot-Marie-Tooth Disease, X-Linked, 1
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Charcot-Marie-Tooth Disease Recessive Intermediate C CMTRIC Ri-Cmtc Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C Ri-Cmt Type C Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C Charcot-Marie-Tooth Neuropathy Recessive Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Charcot-Marie-Tooth Disease Recessive Intermediate D CMTRID Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D Ri-Cmt Type D Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, D
Epidural Spinal Canal Neoplasm	Extradural Tumor Epidural Neoplasms Epidural Neoplasm
Charcot-Marie-Tooth Disease, Axonal, Type 2r	Charcot-Marie-Tooth Disease Type 2r CMT2R Charcot-Marie-Tooth Neuropathy, Type 2r Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r Charcot-Marie-Tooth Disease, Type 2r Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r Charcot-Marie-Tooth Neuropathy Type 2r Charcot-Marie-Tooth Disease 2r Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Neuropathy Axonal Type 2r
Charcot-Marie-Tooth Disease, Axonal, Type 2b2	Charcot-Marie-Tooth Disease Type 2b2 CMT2B2 Arcmt2b Charcot-Marie-Tooth Disease, Type 2b2 Ar-Cmt2b2 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2 Autosomal Recessive Axonal Cmt4c3 Charcot-Marie-Tooth Disease Neuronal Type 2b2 Charcot-Marie-Tooth Neuropathy Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2 Charcot-Marie-Tooth Disease, Neuronal, Type 2b2 Charcot-Marie-Tooth Neuropathy, Type 2b2 Charcot-Marie-Tooth Disease 2b2 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2 Charcot-Marie-Tooth Disease Axonal Type 2b2
Charcot-Marie-Tooth Disease, Dominant Intermediate E	CMTDIE Charcot-Marie-Tooth Disease Dominant Intermediate E Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E Charcot-Marie-Tooth Disease-Nephropathy Syndrome Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E
Charcot-Marie-Tooth Disease, Axonal, Type 2h	CMT2H Charcot-Marie-Tooth Disease Axonal Type 2h Ar-Cmt2c Autosomal Recessive Axonal Cmt4c2 Axonal Charcot-Marie-Tooth Disease With Pyramidal Involvement Charcot-Marie-Tooth Disease Type 2h Charcot-Marie-Tooth Disease, Axonal, With Pyramidal Features, Autosomal Recessive Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Pyramidal Features Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy With Pyramidal Features Charcot-Marie-Tooth Disease, Type 2h
Charcot-Marie-Tooth Disease Type 2a2a	Charcot-Marie-Tooth Disease, Type 2a2a Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2 Charcot-Marie-Tooth Neuronal Type 2a2 Charcot-Marie-Tooth Neuropathy Type 2a2 Cmt2a2a Hereditary Motor And Sensory Neuropathy Iia2 Hmsn Iia2 Hmsn2a2
Charcot-Marie-Tooth Disease, Type 4a	Charcot-Marie-Tooth Disease Type 4a CMT4A Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a Charcot-Marie-Tooth Neuropathy, Type 4a Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a Charcot-Marie-Tooth Neuropathy Type 4a Charcot-Marie-Tooth Disease 4a Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a Charcot-Marie-Tooth Disease Neuropathy Type 4a
Charcot-Marie-Tooth Disease, Axonal, Type 2b1	Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease, Type 2b1 CMT2B1 Autosomal Recessive Axonal Cmt4c1 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease Neuronal Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1 Charcot-Marie-Tooth Neuropathy, Type 2b1 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 Ar-Cmt2b1 Charcot-Marie-Tooth Disease 2b1 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 Charcot-Marie-Tooth Disease Axonal Type 2b1
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Charcot-Marie-Tooth Disease Intermediate Type	Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Dominant Intermediate Charcot-Marie-Tooth Disease Recessive Intermediate Intermediate Cmt Intermediate Hereditary Motor And Sensory Neuropathy Charcot-Marie-Tooth Disease, Intermediate Type Charcot-Marie-Tooth, Intermediate
Spastic Paraplegia 55, Autosomal Recessive	SPG55 Hereditary Spastic Paraplegia 55 Autosomal Recessive Spastic Paraplegia Type 55 Autosomal Recessive Spastic Paraplegia 55 Paraplegia, Spastic, Autosomal Recessive, Type 55
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Charcot-Marie-Tooth Disease, Type 4b3	Charcot-Marie-Tooth Disease Type 4b3 CMT4B3 Charcot-Marie-Tooth Disease With Focally Folded Myelin Charcot-Marie-Tooth Disease 4b3 Charcot-Marie-Tooth Neuropathy Type 4b3
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03866	DNAJB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DNAJB2	RGD	RGD:1591035
Bos taurus	DNAJB2	VGNC	VGNC:49052
Macaca mulatta	DNAJB2	VGNC	VGNC:84228
Felis catus	DNAJB2	VGNC	VGNC:80182
Mus musculus	DNAJB2	MGD	MGI:1928739
Others	DNAJB2	NCBI