This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012] See more...

Aliases for HSPB6 Gene

Aliases for HSPB6 Gene

  • Heat Shock Protein Family B (Small) Member 6 2 3 5
  • Heat Shock Protein, Alpha-Crystallin-Related, B6 2 3
  • Protein Phosphatase 1, Regulatory Subunit 91 2 3
  • Heat Shock 20 KDa-Like Protein P20 3 4
  • Heat Shock Protein Beta-6 3 4
  • PPP1R91 2 3
  • Hsp20 2 3
  • Heat Shock Protein Family B (Small) Member B6 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Epididymis Luminal Protein 55 3
  • FLJ32389 2
  • HEL55 3
  • HSPB6 5
  • HspB6 4

External Ids for HSPB6 Gene

Previous GeneCards Identifiers for HSPB6 Gene

  • GC19M040938
  • GC19M040939
  • GC19M036245
  • GC19M032750
  • GC19M035774
  • GC19M035913
  • GC19M038993
  • GC19M039131
  • GC19M039196
  • GC19M041410
  • GC19M035938
  • GC19M036806
  • GC19M037406
  • GC19M037736
  • GC19M038031
  • GC19M038329
  • GC19M038624
  • GC19M038864

Summaries for HSPB6 Gene

Entrez Gene Summary for HSPB6 Gene

  • This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012]

GeneCards Summary for HSPB6 Gene

HSPB6 (Heat Shock Protein Family B (Small) Member 6) is a Protein Coding gene. Diseases associated with HSPB6 include Cerebral Amyloid Angiopathy, Cst3-Related and Myopathy, Myofibrillar, 6. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and structural constituent of eye lens. An important paralog of this gene is CRYAB.

UniProtKB/Swiss-Prot Summary for HSPB6 Gene

  • Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state. Seems to have versatile functions in various biological processes. Plays a role in regulating muscle function such as smooth muscle vasorelaxation and cardiac myocyte contractility. May regulate myocardial angiogenesis implicating KDR. Overexpression mediates cardioprotection and angiogenesis after induced damage. Stabilizes monomeric YWHAZ thereby supporting YWHAZ chaperone-like activity.

Gene Wiki entry for HSPB6 Gene

Additional gene information for HSPB6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSPB6 Gene

Genomics for HSPB6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSPB6 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
GH19J035753 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.8 1759 6.6 SP1 CREB1 HNRNPL TEAD4 PRDM10 ZNF629 RFX1 SIX5 LEF1 ZNF692 PROSER3 ENSG00000267328 HSPB6 lnc-HSPB6-2 U2AF1L4 COX6B1 HAUS5 ENSG00000267049 KMT2B TMEM147-AS1
GH19J035939 Promoter 0.5 EPDnew 600.1 -181.6 -181559 0.1 ZNF600 HIC1 HSPB6 LRFN3 lnc-LRFN3-1 ENSG00000267786 LOC105372383 RF00017-2948 SDHAF1
GH19J035749 Enhancer 0.8 FANTOM5 ENCODE 0.4 +7.6 7639 1.2 CREB1 PRDM10 ZNF600 SIN3A KLF9 DPF2 ELF1 ZBTB1 HIC1 ZNF658 COX6B1 U2AF1L4 UPK1A LRFN3 MAG ENSG00000188223 ENSG00000267439 LIN37 NONHSAG025600.2 HSPB6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPB6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSPB6

Top Transcription factor binding sites by QIAGEN in the HSPB6 gene promoter:
  • ATF
  • COMP1
  • FOXO4
  • GATA-1
  • GATA-2
  • GATA-3
  • GCNF
  • POU2F1
  • POU2F1a

Genomic Locations for HSPB6 Gene

Genomic Locations for HSPB6 Gene
chr19:35,754,566-35,758,079
(GRCh38/hg38)
Size:
3,514 bases
Orientation:
Minus strand
chr19:36,245,469-36,248,980
(GRCh37/hg19)
Size:
3,512 bases
Orientation:
Minus strand

Genomic View for HSPB6 Gene

Genes around HSPB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPB6 Gene

Proteins for HSPB6 Gene

  • Protein details for HSPB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14558-HSPB6_HUMAN
    Recommended name:
    Heat shock protein beta-6
    Protein Accession:
    O14558
    Secondary Accessions:
    • O14551
    • Q6NVI3
    • Q96MG9

    Protein attributes for HSPB6 Gene

    Size:
    160 amino acids
    Molecular mass:
    17136 Da
    Quaternary structure:
    • Homodimer. Small heat shock proteins form high molecular mass oligomers containing variable number of monomers; these oligomers display a very flexible quaternary structure easily exchanging their subunits. Heterooligomer with HSPB1; formed through oligomerization of HSPB1:HSBP6 dimers; subunit exchange leads to formation of at least two different heterooligomeric complexes, differing in variable quantities of HSPB1 and HSPB6 homodimers in addition to HSPB1:HSPB6 heterodimers. Heterooligomer with CRYAB; large heterooligomers consist of CRYAB homodimers and HSPB5:HSPB6 heterodimers but lacking HSPB6 homodimers. Interacts with BAG3. Interacts (phosphorylated) with YWHAZ. Interacts with PDE4A and PDE4D; required for maintenance of the non-phosphorylated state of HSPB6 under basal conditions. Interacts with KDR. Interacts with PRKD1.

    Three dimensional structures from OCA and Proteopedia for HSPB6 Gene

neXtProt entry for HSPB6 Gene

Post-translational modifications for HSPB6 Gene

  • The N-terminus is blocked.
  • Phosphorylated at Ser-16 by PKA and probably PKD1K; required to protect cardiomyocytes from apoptosis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSPB6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HSPB6 Gene

Domains & Families for HSPB6 Gene

Gene Families for HSPB6 Gene

Protein Domains for HSPB6 Gene

InterPro:
Blocks:
  • Heat shock protein Hsp20
ProtoNet:

Suggested Antigen Peptide Sequences for HSPB6 Gene

GenScript: Design optimal peptide antigens:
  • Heat shock 20 kDa-like protein p20 (HSPB6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14558

UniProtKB/Swiss-Prot:

HSPB6_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 HSPB6: view

Function for HSPB6 Gene

Molecular function for HSPB6 Gene

UniProtKB/Swiss-Prot Function:
Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state. Seems to have versatile functions in various biological processes. Plays a role in regulating muscle function such as smooth muscle vasorelaxation and cardiac myocyte contractility. May regulate myocardial angiogenesis implicating KDR. Overexpression mediates cardioprotection and angiogenesis after induced damage. Stabilizes monomeric YWHAZ thereby supporting YWHAZ chaperone-like activity.

Phenotypes From GWAS Catalog for HSPB6 Gene

Gene Ontology (GO) - Molecular Function for HSPB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 16225851
GO:0042803 protein homodimerization activity IEA,ISS --
GO:0051082 unfolded protein binding IDA 19845507
GO:0051087 chaperone binding IPI 23948568
genes like me logo Genes that share ontologies with HSPB6: view
genes like me logo Genes that share phenotypes with HSPB6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPB6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HSPB6 Gene

Localization for HSPB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPB6 Gene

Cytoplasm. Nucleus. Secreted. Note=Translocates to nuclear foci during heat shock. {ECO:0000269 PubMed:19464326}.

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 HSPB6 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
golgi apparatus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSPB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 22427880
GO:0005634 nucleus IEA,IDA 19464326
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 19464326
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with HSPB6: view

Pathways & Interactions for HSPB6 Gene

PathCards logo

SuperPathways for HSPB6 Gene

No Data Available

SIGNOR curated interactions for HSPB6 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for HSPB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006937 regulation of muscle contraction IEA --
GO:0010667 negative regulation of cardiac muscle cell apoptotic process IEA --
GO:0045766 positive regulation of angiogenesis IDA 22427880
GO:0061077 chaperone-mediated protein folding IDA 14717697
genes like me logo Genes that share ontologies with HSPB6: view

No data available for Pathways by source for HSPB6 Gene

Drugs & Compounds for HSPB6 Gene

(5) Drugs for HSPB6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HSPB6: view

Transcripts for HSPB6 Gene

mRNA/cDNA for HSPB6 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
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 HSPB6

Alternative Splicing Database (ASD) splice patterns (SP) for HSPB6 Gene

No ASD Table

Relevant External Links for HSPB6 Gene

GeneLoc Exon Structure for
HSPB6

Expression for HSPB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSPB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSPB6 Gene

This gene is overexpressed in Muscle - Skeletal (x8.4) and Heart - Left Ventricle (x5.8).

Protein differential expression in normal tissues from HIPED for HSPB6 Gene

This gene is overexpressed in Cardia (14.2), Tonsil (7.4), and Rectum (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSPB6 Gene



Protein tissue co-expression partners for HSPB6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSPB6

SOURCE GeneReport for Unigene cluster for HSPB6 Gene:

Hs.534538

Evidence on tissue expression from TISSUES for HSPB6 Gene

  • Muscle(4.9)
  • Liver(4.5)
  • Skin(4.4)
  • Heart(4)
  • Intestine(3.1)
  • Nervous system(3)
  • Kidney(2.8)
  • Lung(2.5)
  • Adrenal gland(2.5)
  • Eye(2.3)
  • Blood(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with HSPB6: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPB6 Gene

Orthologs for HSPB6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HSPB6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HSPB6 30 31
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HSPB6 30 31
  • 90.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HSPB6 30 31
  • 85.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hspb6 30 17 31
  • 82.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hspb6 30
  • 81.94 (n)
Oppossum
(Monodelphis domestica)
Mammalia HSPB6 31
  • 76 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HSPB6 31
  • 57 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii hspb6 31
  • 37 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.195 31
  • 32 (a)
OneToMany
Species where no ortholog for HSPB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HSPB6 Gene

ENSEMBL:
Gene Tree for HSPB6 (if available)
TreeFam:
Gene Tree for HSPB6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPB6: view image

Paralogs for HSPB6 Gene

(5) SIMAP similar genes for HSPB6 Gene using alignment to 2 proteins:

  • HSPB6_HUMAN
  • K7EP04_HUMAN
genes like me logo Genes that share paralogs with HSPB6: view

Variants for HSPB6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSPB6 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs11549029 - p.Pro20Leu

Additional dbSNP identifiers (rs#s) for HSPB6 Gene

Structural Variations from Database of Genomic Variants (DGV) for HSPB6 Gene

Variant ID Type Subtype PubMed ID
nsv579422 CNV loss 21841781
nsv579423 CNV loss 21841781
nsv819381 CNV gain 19587683
nsv953286 CNV deletion 24416366

Variation tolerance for HSPB6 Gene

Gene Damage Index Score: 1.36; 26.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPB6 Gene

Human Gene Mutation Database (HGMD)
HSPB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPB6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPB6 Gene

Disorders for HSPB6 Gene

MalaCards: The human disease database

(7) MalaCards diseases for HSPB6 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebral amyloid angiopathy, cst3-related
  • amyloidosis, cerebroarterial, icelandic type
myopathy, myofibrillar, 6
  • mfm6
neuronopathy, distal hereditary motor, type iia
  • hmn2a
distal hereditary motor neuronopathy type 2
  • dsma2
myofibrillar myopathy
  • myopathy, myofibrillar, desmin-related
- elite association - COSMIC cancer census association via MalaCards
Search HSPB6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HSPB6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HSPB6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSPB6 Gene

Publications for HSPB6 Gene

  1. Human mutation in the anti-apoptotic heat shock protein 20 abrogates its cardioprotective effects. (PMID: 18790732) Nicolaou P … Kranias EG (The Journal of biological chemistry 2008) 3 4 23 41
  2. Some properties of human small heat shock protein Hsp20 (HspB6). (PMID: 14717697) Bukach OV … Gusev NB (European journal of biochemistry 2004) 2 3 4 23
  3. Identification of the key structural motifs involved in HspB8/HspB6-Bag3 interaction. (PMID: 19845507) Fuchs M … Landry J (The Biochemical journal 2009) 3 4 23
  4. Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy. (PMID: 23948568) Nefedova VV … Gusev NB (Archives of biochemistry and biophysics 2013) 3 4
  5. Monomeric 14-3-3ζ has a chaperone-like activity and is stabilized by phosphorylated HspB6. (PMID: 22794279) Sluchanko NN … Gusev NB (Biochemistry 2012) 3 4

Products for HSPB6 Gene

Sources for HSPB6 Gene