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 macroautop... See more...

Aliases for HSPB8 Gene

Aliases for HSPB8 Gene

  • Heat Shock Protein Family B (Small) Member 8 2 3 5
  • Small Stress Protein-Like Protein HSP22 3 4
  • Heat Shock 22kDa Protein 8 2 3
  • Heat Shock 27kDa Protein 8 2 3
  • Heat Shock Protein Beta-8 3 4
  • E2-Induced Gene 1 Protein 3 4
  • Alpha-Crystallin C Chain 3 4
  • Protein Kinase H11 3 4
  • E2IG1 3 4
  • HSP22 3 4
  • CMT2L 3
  • DHMN2 3
  • HMN2A 3
  • CRYAC 4
  • HspB8 4
  • HMN2 3
  • H11 3

External Ids for HSPB8 Gene

Previous GeneCards Identifiers for HSPB8 Gene

  • GC12P118028
  • GC12P118079
  • GC12P119616
  • GC12P116624

Summaries for HSPB8 Gene

Entrez Gene Summary for HSPB8 Gene

  • 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]

GeneCards Summary for HSPB8 Gene

HSPB8 (Heat Shock Protein Family B (Small) Member 8) is a Protein Coding gene. Diseases associated with HSPB8 include Neuronopathy, Distal Hereditary Motor, Type Iia and Charcot-Marie-Tooth Disease, Axonal, Type 2L. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is HSPB1.

UniProtKB/Swiss-Prot Summary for HSPB8 Gene

Gene Wiki entry for HSPB8 Gene

Additional gene information for HSPB8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSPB8 Gene

Genomics for HSPB8 Gene

GeneHancer (GH) Regulatory Elements for HSPB8 Gene

Promoters and enhancers for HSPB8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J119174 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 756.7 +1.1 1111 10.1 POLR2A MNT SP1 ZNF280D NCOA3 MAFK SP7 PRDM1 GLIS2 PKNOX1 HSPB8 NONHSAG012478.2 piR-45035-050 LOC100287653 ENSG00000256609 LOC105370024
GH12J119235 Enhancer 0.6 Ensembl ENCODE 11.1 +57.5 57459 2.6 CTCF TEAD1 TEAD3 TEAD2 ENSG00000256311 HSPB8 LOC105370024 LOC105370025 NONHSAG012479.2
GH12J119245 Enhancer 0.6 Ensembl 10.7 +67.5 67458 0.6 HLF SP1 CEBPG CEBPA GATAD2A SOX13 USF1 ATF3 JUND NFIL3 HSPB8 LOC105370024 ENSG00000257095 SRRM4 LOC105370025 ENSG00000256311 NONHSAG012479.2
GH12J119423 Enhancer 0.5 Ensembl 10.2 +244.9 244900 0.5 SIX5 HCFC1 ZNF143 POLR2A ELF1 SUZ12 ETS1 THAP11 GCN1 HSPB8 LOC105370024 PRKAB1 piR-50133-002 lnc-CIT-8 CCDC60 NONHSAG012483.2 ENSG00000248636 LOC105370027
GH12J119145 Enhancer 0.4 Ensembl ENCODE 11.9 -33.4 -33441 1.6 CBX8 LOC105370024 HSPB8 ENSG00000257095 SRRM4 lnc-CIT-11 piR-61532-081
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPB8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSPB8 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • HNF-4alpha1
  • NF-Y
  • NF-YA
  • ZIC2

Genomic Locations for HSPB8 Gene

Genomic Locations for HSPB8 Gene
chr12:119,178,642-119,221,131
(GRCh38/hg38)
Size:
42,490 bases
Orientation:
Plus strand
chr12:119,616,447-119,658,936
(GRCh37/hg19)
Size:
42,490 bases
Orientation:
Plus strand

Genomic View for HSPB8 Gene

Genes around HSPB8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPB8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPB8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPB8 Gene

Proteins for HSPB8 Gene

  • Protein details for HSPB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJY1-HSPB8_HUMAN
    Recommended name:
    Heat shock protein beta-8
    Protein Accession:
    Q9UJY1
    Secondary Accessions:
    • B2R6A6
    • Q6FIH3
    • Q9UKS3

    Protein attributes for HSPB8 Gene

    Size:
    196 amino acids
    Molecular mass:
    21604 Da
    Quaternary structure:
    • Monomer. Interacts with HSPB1. Interacts with DNAJB6. Interacts with BAG3 (PubMed:28144995).

neXtProt entry for HSPB8 Gene

Post-translational modifications for HSPB8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSPB8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for HSPB8

No data available for DME Specific Peptides for HSPB8 Gene

Domains & Families for HSPB8 Gene

Gene Families for HSPB8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for HSPB8 Gene

Suggested Antigen Peptide Sequences for HSPB8 Gene

GenScript: Design optimal peptide antigens:
  • Small stress protein-like protein HSP22 (HSPB8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UJY1

UniProtKB/Swiss-Prot:

HSPB8_HUMAN :
  • Belongs to the small heat shock protein (HSP20) family.
Family:
  • Belongs to the small heat shock protein (HSP20) family.
genes like me logo Genes that share domains with HSPB8: view

Function for HSPB8 Gene

Molecular function for HSPB8 Gene

UniProtKB/Swiss-Prot Function:
Displays temperature-dependent chaperone activity.
UniProtKB/Swiss-Prot Induction:
By 17-beta-estradiol.

Phenotypes From GWAS Catalog for HSPB8 Gene

Gene Ontology (GO) - Molecular Function for HSPB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 NOT protein kinase activity IDA 14985082
GO:0005515 protein binding IPI 14594798
GO:0042802 identical protein binding IPI 14594798
GO:0042803 protein homodimerization activity IDA 18006506
genes like me logo Genes that share ontologies with HSPB8: view
genes like me logo Genes that share phenotypes with HSPB8: view

Human Phenotype Ontology for HSPB8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSPB8 Gene

MGI Knock Outs for HSPB8:

Animal Model Products

  • Taconic Biosciences Mouse Models for HSPB8

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPB8

Clone Products

  • Addgene plasmids for HSPB8

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HSPB8 Gene

Localization for HSPB8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPB8 Gene

Cytoplasm. Nucleus. Note=Translocates to nuclear foci during heat shock.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSPB8 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
golgi apparatus 2
cytoskeleton 1
lysosome 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HSPB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA,IEA 19464326
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 19464326
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with HSPB8: view

Pathways & Interactions for HSPB8 Gene

PathCards logo

SuperPathways for HSPB8 Gene

No Data Available

SIGNOR curated interactions for HSPB8 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HSPB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0034620 cellular response to unfolded protein IMP 18006506
GO:1900034 regulation of cellular response to heat TAS --
GO:1905337 positive regulation of aggrephagy IMP 18006506
genes like me logo Genes that share ontologies with HSPB8: view

No data available for Pathways by source for HSPB8 Gene

Drugs & Compounds for HSPB8 Gene

(11) Drugs for HSPB8 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist Tubulin Inhibitor 132
Riluzole Approved, Investigational Pharma Activator Sodium channel protein inhibitor 76
Anticonvulsants Pharma 3346
Antimitotic Agents Pharma 6660
Antirheumatic Agents Pharma 12912

(1) Additional Compounds for HSPB8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HSPB8: view

Transcripts for HSPB8 Gene

mRNA/cDNA for HSPB8 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(347) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPB8

Clone Products

  • Addgene plasmids for HSPB8

Alternative Splicing Database (ASD) splice patterns (SP) for HSPB8 Gene

No ASD Table

Relevant External Links for HSPB8 Gene

GeneLoc Exon Structure for
HSPB8
ECgene alternative splicing isoforms for
HSPB8

Expression for HSPB8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSPB8 Gene

mRNA differential expression in normal tissues according to GTEx for HSPB8 Gene

This gene is overexpressed in Muscle - Skeletal (x7.3) and Heart - Left Ventricle (x4.5).

Protein differential expression in normal tissues from HIPED for HSPB8 Gene

This gene is overexpressed in Cervix (23.8), Placenta (7.1), and Heart (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSPB8 Gene



NURSA nuclear receptor signaling pathways regulating expression of HSPB8 Gene:

HSPB8

SOURCE GeneReport for Unigene cluster for HSPB8 Gene:

Hs.400095

mRNA Expression by UniProt/SwissProt for HSPB8 Gene:

Q9UJY1-HSPB8_HUMAN
Tissue specificity: Predominantly expressed in skeletal muscle and heart.

Evidence on tissue expression from TISSUES for HSPB8 Gene

  • Nervous system(4.9)
  • Muscle(3.2)
  • Heart(3)
  • Eye(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPB8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with HSPB8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for HSPB8 Gene

Orthologs for HSPB8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HSPB8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPB8 33 32
  • 99.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HSPB8 33 32
  • 90.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HSPB8 33 32
  • 90.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hspb8 32
  • 88.61 (n)
mouse
(Mus musculus)
Mammalia Hspb8 17 33 32
  • 87.24 (n)
oppossum
(Monodelphis domestica)
Mammalia HSPB8 33
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPB8 33 32
  • 71.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSPB8 33
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspb8 32
  • 64.29 (n)
Str.13095 32
African clawed frog
(Xenopus laevis)
Amphibia MGC64408 32
zebrafish
(Danio rerio)
Actinopterygii hspb8 33 32
  • 62.34 (n)
OneToOne
wufc09c11 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.195 33
  • 33 (a)
OneToMany
Species where no ortholog for HSPB8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HSPB8 Gene

ENSEMBL:
Gene Tree for HSPB8 (if available)
TreeFam:
Gene Tree for HSPB8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPB8: view image

Paralogs for HSPB8 Gene

(3) SIMAP similar genes for HSPB8 Gene using alignment to 2 proteins:

  • HSPB8_HUMAN
  • H0YG30_HUMAN
genes like me logo Genes that share paralogs with HSPB8: view

Variants for HSPB8 Gene

Sequence variations from dbSNP and Humsavar for HSPB8 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000728639 uncertain-significance, Charcot-Marie-Tooth disease, type 2L 119,193,790(+) T/C/G coding_sequence_variant, missense_variant
rs104894345 pathogenic, Distal hereditary motor neuronopathy type 2A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type 2L, Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] 119,187,080(+) G/C/T coding_sequence_variant, missense_variant
rs104894351 uncertain-significance, pathogenic, Charcot-Marie-Tooth disease, type 2L, Distal hereditary motor neuronopathy type 2A, Charcot-Marie-Tooth disease, Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] 119,187,078(+) A/C/G coding_sequence_variant, missense_variant
rs11038 likely-benign, Charcot-Marie-Tooth disease, type 2, Distal hereditary motor neuronopathy 119,194,502(+) A/G 3_prime_UTR_variant
rs112052602 likely-benign, benign, Distal hereditary motor neuronopathy, Charcot-Marie-Tooth disease, type 2, not specified, Charcot-Marie-Tooth disease, type 2L 119,193,819(+) C/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for HSPB8 Gene

Variant ID Type Subtype PubMed ID
esv3580499 CNV loss 25503493
nsv902 CNV deletion 18451855
nsv983367 CNV duplication 23825009

Variation tolerance for HSPB8 Gene

Residual Variation Intolerance Score: 56.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPB8 Gene

Human Gene Mutation Database (HGMD)
HSPB8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPB8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPB8 Gene

Disorders for HSPB8 Gene

MalaCards: The human disease database

(21) MalaCards diseases for HSPB8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

HSPB8_HUMAN
  • Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269 PubMed:15122253, ECO:0000269 PubMed:28144995}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:15565283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HSPB8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HSPB8: view

No data available for Genatlas for HSPB8 Gene

Publications for HSPB8 Gene

  1. A novel human gene similar to the protein kinase (PK) coding domain of the large subunit of herpes simplex virus type 2 ribonucleotide reductase (ICP10) codes for a serine-threonine PK and is expressed in melanoma cells. (PMID: 10833516) Smith CC … Aurelian L (The Journal of biological chemistry 2000) 2 3 4 23 56
  2. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. (PMID: 15122253) Irobi J … Timmerman V (Nature genetics 2004) 3 4 23 56
  3. Characterization of two novel human small heat shock proteins: protein kinase-related HspB8 and testis-specific HspB9. (PMID: 11470154) Kappé G … De Jong WW (Biochimica et biophysica acta 2001) 3 4 23 56
  4. Effects of estrogen on global gene expression: identification of novel targets of estrogen action. (PMID: 11085516) Charpentier AH … Aldaz CM (Cancer research 2000) 2 3 4 56
  5. Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. (PMID: 28144995) Echaniz-Laguna A … Stojkovic T (Human mutation 2017) 3 4 56

Products for HSPB8 Gene

Sources for HSPB8 Gene