HSPB8 - heat shock protein family B (small) member 8 Gene

Also Known as H11; HMN2; CMT2L; DHMN2; E2IG1; HMN2A; HSP22

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26353

About HSPB8

Cytogenetic location: 12q24.23 Genomic coordinates (GRCh38): 12:119,178,931-119,194,746 (from NCBI)

This gene has 14 transcripts (splice variants), 219 orthologues, 8 paralogues and is associated with 5 phenotypes. Broad expression in heart (RPKM 181.8), esophagus (RPKM 96.6) and 15 other tissues.

Summary

The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast Cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, Apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]

HSPB8 Products (1)

mRNA Protein Name
NM_014365.3 NP_055180.1 heat shock protein beta-8
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
14594798 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14594798 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
18006506 GOA
NOT enables protein kinase activity IDA
IDA: Inferred from direct assay
14985082 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to unfolded protein IMP
IMP: Inferred from mutant phenotype
18006506 GOA
involved in positive regulation of aggrephagy IMP
IMP: Inferred from mutant phenotype
18006506 GOA
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
part of protein folding chaperone complex IDA
IDA: Inferred from direct assay
18006506 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

HSPB8 Protein Structure

HSP20

HSP20: Hsp20/alpha crystallin family (96 - 174)

  • 0
  • 100
  • 196 a.a.
Protein Preferred Names Protein Names

heat shock protein beta-8

  • E2-induced gene 1 protein

HSPB8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HSPB8 Q9UJY1 MLF2 Homo sapiens Q15773 25036637
Intra
HSPB8 Q9UJY1 MLF2 Homo sapiens Q15773 32707033
Intra
HSPB8 Q9UJY1 QRICH1 Homo sapiens Q2TAL8 33961781
Intra
HSPB8 Q9UJY1 HSPB1 Homo sapiens P04792 14594798
Intra
HSPB8 Q9UJY1 HSPB1 Homo sapiens P04792
Y2H
14594798
Intra
HSPB8 Q9UJY1 DUSP12 Homo sapiens Q9UNI6 25416956
Intra
HSPB8 Q9UJY1 DUSP12 Homo sapiens Q9UNI6 25416956
Intra
HSPB8 Q9UJY1 HSPB7 Homo sapiens Q9UBY9
Y2H
14594798
Intra
HSPB8 Q9UJY1 BAG3 Homo sapiens O95817 33961781
Intra
HSPB8 Q9UJY1 BAG3 Homo sapiens O95817 28514442
Intra
HSPB8 Q9UJY1 BAG3 Homo sapiens O95817 32707033
Intra
HSPB8 Q9UJY1 HSPB7 Homo sapiens Q9UBY9 25416956
Intra
HSPB8 Q9UJY1 BAG3 Homo sapiens O95817 25036637
Intra
HSPB8 Q9UJY1 HSPB7 Homo sapiens Q9UBY9 25416956
Intra
HSPB8 Q9UJY1 HSPB7 Homo sapiens Q9UBY9 16189514
Intra
HSPB8 Q9UJY1 HSPB2 Homo sapiens Q16082
Y2H
14594798
Intra
HSPB8 Q9UJY1 HSPB2 Homo sapiens Q16082 14594798
Intra
HSPB8 Q9UJY1 ATOSB Homo sapiens Q7L5A3 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HSPB8 Proteins

Cat. No. Product Name Accession Purity
HY-P70933 HSPB8 Protein, Human (His) Q9UJY1 (M1-T196) ≥ 90%, as determined by reducing SDS-PAGE.

HSPB8 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82872 HspB8 Antibody (YA2617) WB, IHC-P, ICC/IF Human, Mouse, Rat
HY-P85746 HspB8 Antibody (YA5438) WB Human, Rat, Mouse

Related Diseases

Diseases Alias
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

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

Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome
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

Estrogen-Receptor Positive Breast Cancer
Miyoshi Muscular Dystrophy
  • Distal Myopathy

  • Distal Muscular Dystrophy

  • Miyoshi Myopathy

  • Distal Myopathies

  • Dystrophy, Muscular, Miyoshi

  • Myopathy, Distal

  • Distal Muscular Dystrophies

Tooth Disease
  • Tooth Diseases

  • Teeth Disease

  • Tooth Disorders

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

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

Muscular Atrophy
  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy

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

Neuronopathy, Distal Hereditary Motor, Type Iib
  • HMN2B

  • Hmn Iib

  • Neuropathy, Distal Hereditary Motor, Type Iib

  • Dhmn2b

  • Distal Hereditary Motor Neuropathy Type 2b

  • Distal Hereditary Motor Neuropathy Type Iib

  • Neuronopathy, Distal Hereditary Motor, Type 2b

  • Neuronopathy, Distal Hereditary Motor, 2b

  • Dhmn Ii

  • Neuropathy, Motor, Distal, Hereditary, Type 2b

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

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

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Myopathy, Myofibrillar, 6
  • Myofibrillar Myopathy 6

  • MFM6

  • Myopathy, Myofibrillar, Bag3-Related

  • Bag3-Related Myofibrillar Myopathy

  • Muscular Dystrophy, Selcen Type

  • Mfm Bag3-Related

  • Muscular Dystrophy Selcen Type

  • Myopathy Myofibrillar Bag3-Related

Giant Axonal Neuropathy 2
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 Distal Hereditary Motor Neuronopathy
  • Autosomal Dominant Distal Hereditary Motor Neuropathy

  • Autosomal Dominant Dhmn

  • Autosomal Dominant Distal Spinal Muscular Atrophy

Charcot-Marie-Tooth Disease And Deafness
  • Charcot-Marie-Tooth Disease Type 1e

  • CMT1E

  • Charcot-Marie-Tooth Disease Type 1

  • Hereditary Motor And Sensory Neuropathy Type 1

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

  • Charcot-Marie-Tooth Disease, Type I

  • Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

  • Charcot-Marie-Tooth Disease, Type 1e

  • Charcot-Marie-Tooth Disease Demyelinating Type 1e

  • Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

  • Cmt1

  • Charcot-Marie-Tooth Neuropathy Type 1

  • Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

  • Charcot-Marie-Tooth Disease-Deafness

  • Charcot-Marie-Tooth Type 1

  • Hmsn1

  • Hereditary Motor And Sensory Neuropathy 1

  • Cmt 1e

  • Charcot Marie Tooth Disease Type 1e

  • Charcot-Marie-Tooth Disease-Deafness Syndrome

  • Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

  • Charcot-Marie-Tooth Disease 1e

  • Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

  • Charcot-Marie-Tooth Neuropathy Type 1e

  • Charcot-Marie-Tooth Disease, Type Ie

  • Hereditary Motor And Sensory Neuropathy Type I

Charcot-Marie-Tooth Disease, Axonal, Type 2a1
  • CMT2A1

  • Charcot-Marie-Tooth Disease Type 2a1

  • Hereditary Motor And Sensory Neuropathy Iia1

  • Hmsn Iia1

  • Hmsn2a1

  • Charcot-Marie-Tooth Disease, Type 2a1

  • Charcot-Marie-Tooth Disease Neuronal Type 2a1

  • Charcot-Marie-Tooth Neuropathy Type 2a1

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2a1

  • Charcot-Marie-Tooth Neuropathy, Type 2a1

  • Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1

  • Charcot-Marie-Tooth Disease 2a1

  • Charcot-Marie-Tooth Disease Axonal Type 2a1

Hereditary Motor And Sensory Neuropathy, Type Iic
  • CMT2C

  • Charcot-Marie-Tooth Disease Axonal Type 2c

  • HMSN2C

  • Hmsn Iic

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

  • Charcot-Marie-Tooth Neuropathy Type 2c

  • Hereditary Motor And Sensory Neuropathy Type Iic

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c

  • Charcot-Marie-Tooth Neuropathy, Type 2c

  • Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c

  • Charcot-Marie-Tooth Disease 2c

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c

  • Charcot-Marie-Tooth Disease, Type 2c

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

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, Axonal, Type 2i
  • CMT2I

  • Charcot-Marie-Tooth Disease, Type 2i

  • Charcot-Marie-Tooth Disease Type 2i

  • Charcot-Marie-Tooth Neuropathy Type 2i

  • Charcot-Marie-Tooth Neuropathy, Type 2i

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i

  • Charcot-Marie-Tooth Disease 2i

  • Charcot-Marie-Tooth Disease Axonal Type 2i

  • Charcot-Marie-Tooth Disease Neuronal Type 2i

Charcot-Marie-Tooth Disease, Axonal, Type 2d
  • Charcot-Marie-Tooth Disease Type 2d

  • CMT2D

  • Charcot-Marie-Tooth Disease, Type 2d

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

  • Charcot-Marie-Tooth Disease Neuronal Type 2d

  • Charcot-Marie-Tooth Neuropathy Type 2d

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2d

  • Charcot-Marie-Tooth Neuropathy, Type 2d

  • Charcot-Marie-Tooth Disease 2d

  • Charcot-Marie-Tooth Disease Axonal Type 2d

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

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

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]

Charcot-Marie-Tooth Disease, Recessive Intermediate A
  • Charcot-Marie-Tooth Disease Recessive Intermediate A

  • CMTRIA

  • Ri-Cmta

  • Charcot-Marie-Tooth Disease, Recessive Intermediate, A

  • Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A

  • Charcot-Marie-Tooth Neuropathy Recessive Intermediate A

  • Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A

  • Ri-Cmt Type A

  • Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A

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

Autosomal Dominant Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

Spastic Paraplegia 17, Autosomal Dominant
  • Silver Syndrome

  • SPG17

  • Silver Spastic Paraplegia Syndrome

  • Spastic Paraplegia With Amyotrophy Of Hands And Feet

  • Hereditary Spastic Paraplegia 17

  • Autosomal Dominant Spastic Paraplegia Type 17

  • Spastic Paraplegia 17

  • Spastic Paraplegia-Amyotrophy Of Hands And Feet

  • Autosomal Dominant Spastic Paraplegia 17

  • Dhmn5b

  • Distal Hereditary Motor Neuropathy Type 5b

  • Paraplegia, Spastic, Autosomal Dominant, Type 17

  • Russell-Silver Syndrome

  • Neuronopathy, Distal Hereditary Motor, Type Vb

Spinal And Bulbar Muscular Atrophy, X-Linked 1
  • Kennedy Disease

  • Sbma

  • Spinal And Bulbar Muscular Atrophy

  • Kennedy'S Disease

  • X-Linked Spinal And Bulbar Muscular Atrophy

  • SMAX1

  • Kd

  • Kennedy Spinal And Bulbar Muscular Atrophy

  • Spinobulbar Muscular Atrophy

  • Bulbospinal Muscular Atrophy, X-Linked

  • Bulbospinal Neuronopathy, X-Linked Recessive

  • Xbsn

  • Spinal And Bulbar Muscular Atrophy Of Kennedy

  • Bulbospinal Muscular Atrophy

  • X-Linked Bulbospinal Amyotrophy

  • Bulbo-Spinal Atrophy, X-Linked

  • Spinal Bulbar Muscular Atrophy

  • X-Linked Bulbo-Spinal Atrophy

  • X-Linked Spinal Bulbar Muscular Atrophy

  • X-Linked Bsma

  • X-Linked Bulbospinal Muscular Atrophy

  • Spinal And Bulbar Muscular Atrophy X-Linked 1

  • Bulbospinal Muscular Atrophy X-Linked

  • Bulbospinal Neuronopathy X-Linked Recessive

  • Kennedy Disease)

  • Kennedy Syndrome

  • Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

  • Atrophy, Muscular, Spinobulbar

  • Bulbospinal Neuronopathy

Myopathy, Myofibrillar, 5
  • Myofibrillar Myopathy 5

  • MFM5

  • Myopathy, Myofibrillar, Filamin C-Related

  • Filaminopathy, Autosomal Dominant

  • Filaminopathy

  • Muscle Filaminopathy

  • Autosomal Dominant Filaminopathy

  • Mfm Filamin C-Related

  • Myopathy Myofibrillar Filamin C-Related

  • Myopathy, Myofibrillar, Type 5

Charcot-Marie-Tooth Disease, Axonal, Type 2b
  • Charcot-Marie-Tooth Disease Type 2b

  • CMT2B

  • Hmsn Iib

  • Hmsn2b

  • Charcot-Marie-Tooth Disease, Type 2b

  • Hereditary Motor And Sensory Neuropathy Iib

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

  • Charcot-Marie-Tooth Neuropathy Type 2b

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

  • Charcot-Marie-Tooth Neuropathy, Type 2b

  • Hereditary Motor And Sensory Nueropathy Iib

  • Cmt 2b

  • Charcot Marie Tooth Disease Type 2b

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2b

  • Hereditary Motor And Sensory Neuropathy 2 B

  • Peripheral Sensory Neuropathy, Autosomal Dominant

  • Charcot-Marie-Tooth Disease 2b

  • Charcot-Marie-Tooth Disease Axonal Type 2b

  • Charcot-Marie-Tooth Disease Neuronal Type 2b

  • Peripheral Sensory Neuropathy Autosomal Dominant

  • Psn

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

Myopathy
  • Muscular Diseases

  • Myopathies

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

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

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]

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

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

Orthologs Information

Species Symbol Source ID
Felis catus HSPB8 VGNC VGNC:80443
Mus musculus HSPB8 MGD MGI:2135756
Bos taurus HSPB8 VGNC VGNC:53907
Canis familiaris HSPB8 VGNC VGNC:52935
Rattus norvegicus HSPB8 RGD RGD:71003
Macaca mulatta HSPB8 VGNC VGNC:99943
Others HSPB8 NCBI