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

Homo sapiens

Also known as HMN2C; DHMN2C; HSPL27

Gene ID: 8988 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06440	HSPB3 Human Pre-designed siRNA Set A		/	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

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