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

Homo sapiens

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

Gene ID: 3300 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

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

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