HSPB3 - heat shock protein family B (small) member 3 Gene

Also Known as HMN2C; DHMN2C; HSPL27

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8988

About HSPB3

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:54,455,699-54,456,377 (from NCBI)

This gene has 1 transcript (splice variant), 155 orthologues, 8 paralogues and is associated with 2 phenotypes.

Summary

This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]

HSPB3 Products (1)

mRNA	Protein	Name
NM_006308.3	NP_006299.1	heat shock protein beta-3

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19464326	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19464326	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

HSPB3 Protein Structure

HSP20

0
100
150 a.a.

Protein Preferred Names	Protein Names
heat shock protein beta-3	HSP 17

Related Diseases

Diseases	Alias
Neuronopathy, Distal Hereditary Motor, Type Iic	HMN2C Hmn Iic Dhmn2c Distal Hereditary Motor Neuronopathy Type 2c Distal Hereditary Motor Neuropathy Type Iic Neuronopathy, Distal Hereditary Motor, Type 2c Neuropathy, Distal Hereditary Motor, Type Iic Neuronopathy, Distal Hereditary Motor, 2c Dhmn Iic Neuropathy, Motor, Distal, Hereditary, Type 2c
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
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
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Charcot-Marie-Tooth Disease, Axonal, Type 2f	Charcot-Marie-Tooth Disease Axonal Type 2f CMT2F Charcot-Marie-Tooth Disease, Neuronal, Type 2f Charcot-Marie-Tooth Neuropathy, Type 2f Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Neuropathy Type 2f Charcot-Marie-Tooth Neuronal Type 2f Charcot-Marie-Tooth Disease Type 2f Cmt 2f Charcot Marie Tooth Disease Type 2f Charcot-Marie-Tooth Disease 2f Charcot-Marie-Tooth Disease Neuronal Type 2f Charcot-Marie-Tooth Disease, Type 2f
Alexander Disease	Alexander'S Disease ALXDRD Alexanders Leukodystrophy Axd Demyelinogenic Leukodystrophy Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia Alx Dysmyelinogenic Leukodystrophy Fibrinoid Degeneration Of Astrocytes Leukodystrophy With Rosenthal Fibers Alexander Disease Type Ii Axd Type Ii Alexander Disease Type I Axd Type I Alexanders Disease Alexander'S Leukodystrophy
Charcot-Marie-Tooth Disease, Axonal, Type 2l	Charcot-Marie-Tooth Disease Axonal Type 2l CMT2L Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy Axonal Type 2l Charcot-Marie-Tooth Disease 2l Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l Charcot-Marie-Tooth Disease Neuronal Type 2l Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Disease, Type 2l Charcot-Marie-Tooth Disease, Type 2i
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
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Sexual Sadism	Sadism
Warburg Micro Syndrome 3	WARBM3 Micro Syndrome 3
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
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

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-RS06440	HSPB3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HSPB3	VGNC	VGNC:102229
Macaca mulatta	HSPB3	VGNC	VGNC:84391
Mus musculus	HSPB3	MGD	MGI:1928479
Rattus norvegicus	HSPB3	RGD	RGD:68345
Others	HSPB3	NCBI