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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 Family B (Small) Member B6 3
  • Epididymis Luminal Protein 55 3
  • Heat Shock Protein Beta-6 3
  • PPP1R91 3
  • HEL55 3
  • Hsp20 3
  • HspB6 4

External Ids for HSPB6 Gene

Previous GeneCards Identifiers for HSPB6 Gene

  • GC19M040938
  • GC19M040939
  • GC19M036245
  • GC19M032750
  • GC19M035774
  • GC19M035913
  • GC19M035938
  • GC19M036806
  • GC19M037406
  • GC19M037736
  • GC19M038031

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. 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 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 , fRNAdb sequence ontologies and piRNA Summary for HSPB6 Gene

Genomics for HSPB6 Gene

GeneHancer (GH) Regulatory Elements for HSPB6 Gene

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
GH19I035753 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.8 1821 6.4 HDGF PKNOX1 SMAD1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 SLC30A9 PROSER3 HSPB6 GC19M038818 ENSG00000267328 U2AF1L4 COX6B1 ZBTB32 ENSG00000267049 KMT2B ENSG00000261754
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSPB6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSPB6 gene promoter:

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)

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

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

Other Protein References for HSPB6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for HSPB6

No data available for DME Specific Peptides for HSPB6 Gene

Domains & Families for HSPB6 Gene

Gene Families for HSPB6 Gene

Suggested Antigen Peptide Sequences for HSPB6 Gene

GenScript: Design optimal peptide antigens:

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.

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

Phenotypes for HSPB6 Gene

genes like me logo Genes that share phenotypes with HSPB6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HSPB6

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 3
cytoskeleton 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for HSPB6 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSPB6 Gene

Pathways & Interactions for HSPB6 Gene

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

Unigene Clusters for HSPB6 Gene

Heat shock protein, alpha-crystallin-related, B6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
HSPB6

Expression for HSPB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for HSPB6 Gene



Protein tissue co-expression partners for HSPB6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSPB6 Gene:

HSPB6

SOURCE GeneReport for Unigene cluster for HSPB6 Gene:

Hs.534538

Evidence on tissue expression from TISSUES for HSPB6 Gene

  • Muscle(4.9)
  • Liver(4.3)
  • Skin(4)
  • Heart(3.8)
  • Nervous system(2.5)
  • Intestine(2.4)
  • Adrenal gland(2)
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 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia HSPB6 33 34
  • 90.28 (n)
cow
(Bos Taurus)
Mammalia HSPB6 33 34
  • 85.83 (n)
mouse
(Mus musculus)
Mammalia Hspb6 33 16 34
  • 82.64 (n)
rat
(Rattus norvegicus)
Mammalia Hspb6 33
  • 81.94 (n)
oppossum
(Monodelphis domestica)
Mammalia HSPB6 34
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSPB6 34
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hspb6 34
  • 37 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.195 34
  • 32 (a)
OneToMany
Species where no ortholog for HSPB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for HSPB6 Gene

Paralogs for HSPB6 Gene

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

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

Variants for HSPB6 Gene

Sequence variations from dbSNP and Humsavar for HSPB6 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000309698 -- 35,757,631(-) T/C upstream_transcript_variant
rs1000338983 -- 35,757,364(-) T/ upstream_transcript_variant
rs1000726103 -- 35,758,288(-) C/T upstream_transcript_variant
rs1001557310 -- 35,757,740(-) T/G upstream_transcript_variant
rs1002502974 -- 35,756,793(-) C/A intron_variant

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

(1) MalaCards diseases for HSPB6 Gene - From: HGMD, DISEASES, and Novoseek

Disorder Aliases PubMed IDs
cerebral amyloid angiopathy, cst3-related
  • amyloidosis, cerebroarterial, icelandic type
- 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
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 22 44 58
  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 22 58
  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 22 58
  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 58
  5. Hsp20 functions as a novel cardiokine in promoting angiogenesis via activation of VEGFR2. (PMID: 22427880) Zhang X … Fan GC (PloS one 2012) 3 4 58

Products for HSPB6 Gene

  • Addgene plasmids for HSPB6

Sources for HSPB6 Gene

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