DNAJB6 - DnaJ heat shock protein family (Hsp40) member B6 Gene

Also Known as DJ4; MRJ; DnaJ; HSJ2; HHDJ1; HSJ-2; MSJ-1; LGMD1D; LGMD1E; LGMDD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10049

About DNAJB6

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:157,337,004-157,417,439 (from NCBI)

This gene has 18 transcripts (splice variants), 197 orthologues, 11 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 36.6), bone marrow (RPKM 32.4) and 25 other tissues.

Summary

This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

DNAJB6 Products (3)

mRNA	Protein	Name
NM_001363676.1	NP_001350605.1	dnaJ homolog subfamily B member 6 isoform d
NM_005494.3	NP_005485.1	dnaJ homolog subfamily B member 6 isoform b
NM_058246.4	NP_490647.1	dnaJ homolog subfamily B member 6 isoform a

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	11896048	GOA
enables heat shock protein binding	IDA IDA: Inferred from direct assay	10954706	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22366786	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10954706	GOA
enables protein-folding chaperone binding	IDA IDA: Inferred from direct assay	11896048	GOA
enables protein-folding chaperone binding	IPI IPI: Inferred from physical interaction	21231916	GOA
enables unfolded protein binding	IDA IDA: Inferred from direct assay	21231916	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intermediate filament organization	IDA IDA: Inferred from direct assay	10954706	GOA
involved in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	11896048	GOA
involved in negative regulation of inclusion body assembly	IDA IDA: Inferred from direct assay	21231916	GOA
involved in negative regulation of inclusion body assembly	IMP IMP: Inferred from mutant phenotype	20889486	GOA
involved in protein folding	IDA IDA: Inferred from direct assay	11896048	GOA
involved in regulation of protein localization	IMP IMP: Inferred from mutant phenotype	20889486	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Z disc	IDA IDA: Inferred from direct assay	22366786	GOA
located in cytosol	IDA IDA: Inferred from direct assay	21231916	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10954706	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	10954706	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

DNAJB6 Protein Structure

DnaJ

0
100
200
300
326 a.a.

Protein Preferred Names	Protein Names
dnaJ homolog subfamily B member 6	DnaJ (Hsp40) homolog, subfamily B, member 6

DNAJB6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DNAJB6	O75190	MLF2	Homo sapiens	Q15773	Lumier	25036637
Intra	DNAJB6	O75190	MLF2	Homo sapiens	Q15773	Y2H Fragment Pooling	23414517
Intra	DNAJB6	O75190	KRT18	Homo sapiens	P05783	Y2H	10954706
Intra	DNAJB6	O75190	KRT18	Homo sapiens	P05783	Anti Bait CoIP	10954706
Intra	DNAJB6	O75190	KRT18	Homo sapiens	P05783	Cosedimentation	10954706
Intra	DNAJB6	O75190	MLF1	Homo sapiens	P58340	Lumier	25036637
Intra	DNAJB6	O75190	MLF1	Homo sapiens	P58340	Y2H Fragment Pooling	23414517

Cross: Cross-species interaction Intra: Intraspecies interaction

DNAJB6 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82959	DNAJB6 Antibody (YA2704)	WB, IHC-P	Human, Mouse, Rat
HY-P82959A	DNAJB6 Antibody (YA2704)(PBS only)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscular Dystrophy, Limb-Girdle, Type 1e Lgmd1d Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d LGMDD1 Lgmd1e Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1 Limb-Girdle Muscular Dystrophy Type 1d Muscular Dystrophy, Limb-Girdle, Type 1d Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly Lgmd1d, Formerly Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Muscular Dystrophy Limb-Girdle Type 1d Muscular Dystrophy Limb-Girdle Type 1e Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 Dnajb6-Related Lgmd D1 Lgmd Type 1d Limb-Girdle Muscular Dystrophy 1e Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1 Dystrophy, Muscular, Limb-Girdle, Type 1e
Autosomal Dominant Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Dominant
Hereditary Late-Onset Parkinson Disease	Autosomal Dominant Late-Onset Parkinson Disease Lopd Hereditary Late Onset Parkinson Disease
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Lgmd1g Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g LGMDD3 Muscular Dystrophy, Limb-Girdle, Type 1g Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3 Limb-Girdle Muscular Dystrophy, Type 1g Muscular Dystrophy Limb-Girdle Type 1g Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3 Hnrnpdl-Related Lgmd D3 Lgmd Type 1g Limb-Girdle Muscular Dystrophy Type 1g Limb-Girdle Muscular Dystrophy 1g Dystrophy, Muscular, Limb-Girdle, Type 1g
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Muscular Dystrophy, Limb-Girdle, Type 1h	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h LGMD1H Muscular Dystrophy Limb-Girdle Type 1h Dystrophy, Muscular, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Muscular Dystrophy, Limb-Girdle, Type 1f Lgmd1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f LGMDD2 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2 Muscular Dystrophy Limb-Girdle Type 1f Tnp03-Related Limb-Girdle Muscular Dystrophy D2 Lgmd Type 1f Limb-Girdle Muscular Dystrophy Type 1f Limb-Girdle Muscular Dystrophy 1f Dystrophy, Muscular, Limb-Girdle, Type 1f
Neuronopathy, Distal Hereditary Motor, Type Iia	HMN2A Hmn Iia Neuropathy, Distal Hereditary Motor, Type Iia Dhmn2a Distal Hereditary Motor Neuronopathy Type 2a Distal Hereditary Motor Neuropathy Type Iia Neuronopathy, Distal Hereditary Motor, Type 2a Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia Charcot-Marie-Tooth Disease, Spinal, Iia Autosomal Dominant Adult Spinal Muscular Atrophy Iia Spinal Charcot-Marie-Tooth Disease Iia Neuronopathy, Distal Hereditary Motor, 2a Charcot-Marie-Tooth Disease Spinal Iia Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia Neuropathy, Motor, Distal, Hereditary, Type 2a
Fatal Infantile Hypertonic Myofibrillar Myopathy
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Myopathy, Myofibrillar, 2	Alpha-B Crystallinopathy Myofibrillar Myopathy 2 MFM2 Myopathy, Myofibrillar, Alpha-B Crystallin-Related Myopathy, Desmin-Related, Associated With Mutation In The Cryab Gene Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy Alpha-B Crystallin-Related Late-Onset Myopathy Alpha-B Crystallin-Related Late-Onset Distal Myopathy Late-Onset Distal Crystallinopathy Alpha-B Crystallinopathy With Cataract Desmin-Related Myopathy With Cataract Mfm Alpha-B Crystallin-Related Myofibrillar Myopathy Alpha-B Crystallin-Related Myofibrillar Myopathy With Or Without Cataract And/Or Cardiomyopathy Myopathy Cardioskeletal Desmin-Related With Cataract Myopathy Desmin-Related Associated With Mutation In The Cryab Gene Myopathy, Cardioskeletal, Desmin-Related, With Cataract Myopathy, Myofibrillar, Type 2
Myopathy	Muscular Diseases Myopathies
Myopathy, Myofibrillar, 3	Myotilinopathy Myofibrillar Myopathy 3 MFM3 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Lgmd1a Muscular Dystrophy, Limb-Girdle, Type 1a Myopathy, Myofibrillar, Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1, Formerly Lgmd1, Formerly Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly Lgmd1a, Formerly Qualitative Or Quantitative Defects Of Myotilin Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency Distal Myotilinopathy Lgmd1 Limb-Girdle Muscular Dystrophy 1a Mfm Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1 Myopathy Myofibrillar Myotylin-Related Myopathy, Myofibrillar, Type 3
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure Hmerf Myopathy, Proximal, With Early Respiratory Muscle Involvement Edstrom Myopathy Mfm-Titinopathy MFM9 Mprm Hereditary Inclusion Body Myopathy With Early Respiratory Failure Hibm-Erf Myofibrillar Myopathy-Titinopathy Myofibrillar Myopathy With Early Respiratory Failure Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant Myofibrillar Myopathy 9 Myofibrillar Myopathy 9 With Early Respiratory Failure Autosomal Dominant Distal Myopathy With Early Respiratory Failure Proximal Myopathy With Early Respiratory Muscle Involvement Hereditary Proximal Myopathy With Early Respiratory Failure Admerf Edström Myopathy Hmerf-Erf
Myopathy, Myofibrillar, 1	Desmin-Related Myofibrillar Myopathy Desmin-Related Myopathy MFM1 Myopathy, Myofibrillar, Desmin-Related Drm Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Myofibrillar Myopathy 1 Desminopathy Muscular Dystrophy, Limb-Girdle, Type 2r Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 Desminopathy, Primary Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly Arvd7, Formerly Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly Arvc7, Formerly Inclusion Body Myopathy 1, Autosomal Dominant, Formerly Ibm1, Formerly Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly Cmd1f And Lgmd1d, Formerly Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy Cdcd3, Formerly Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly Lgmd2r, Formerly Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r Arrhythmogenic Right Ventricular Cardiomyopathy 7 Arvc7 Arvd7 Autosomal Dominant Inclusion Body Myopathy 1 Cdcd3 Cmd1f And Lgmd1d Desminopathy Primary Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy Familial Arrhythmogenic Right Ventricular Dysplasia 7 Lgmd2r Limb-Girdle Muscular Dystrophy 2r Mfm Desmin-Related Myopathy Myofibrillar Desmin-Related Dystrophy, Muscular, Limb-Girdle, Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency Lgmd2q Muscular Dystrophy, Limb-Girdle, Type 2q
Nonaka Myopathy	Gne Myopathy Hibm Distal Myopathy With Rimmed Vacuoles Hereditary Inclusion Body Myopathy Ibm2 Inclusion Body Myopathy, Quadriceps-Sparing Qsm Dmrv Distal Myopathy, Nonaka Type Inclusion Body Myopathy 2 Inclusion Body Myopathy, Autosomal Recessive NM Nonaka Distal Myopathy Myopathy, Distal, With Or Without Rimmed Vacuoles Inclusion Body Myopathy, Hereditary, Autosomal Recessive Inclusion Body Myopathy Type 2 Quadriceps-Sparing Myopathy Quadriceps Sparing Myopathy Rimmed Vacuole Myopathy Inclusion Body Myopathy 2, Autosomal Recessive, Formerly Ibm2, Formerly Hibm2 Hereditary Inclusion Body Myopathy Type 2 Inclusion Body Myopathy 2, Autosomal Recessive Myopathy, Distal, With Rimmed Vacuoles Inclusion Body Myopathy Autosomal Recessive Myopathy, Inclusion Body, Type 2 Myopathy, Nonaka
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Myopathy, Spheroid Body	Spheroid Body Myopathy Autosomal Dominant Spheroid Body Myopathy SBM
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03869	DNAJB6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21116	Dnajb6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27635	Dnajb6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DNAJB6	VGNC	VGNC:81304
Felis catus	DNAJB6	VGNC	VGNC:78441
Bos taurus	DNAJB6	VGNC	VGNC:53635
Rattus norvegicus	DNAJB6	RGD	RGD:1308207
Canis familiaris	DNAJB6	VGNC	VGNC:51797
Mus musculus	DNAJB6	MGD	MGI:1344381
Others	DNAJB6	NCBI