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Aliases for HSPB2 Gene

Aliases for HSPB2 Gene

  • Heat Shock Protein Family B (Small) Member 2 2 3 5
  • Heat Shock 27kDa Protein 2 2 3
  • DMPK-Binding Protein 3 4
  • MKBP 3 4
  • Heat Shock Protein Beta-2 3
  • Heat-Shock Protein Beta-2 3
  • Heat Shock 27kD Protein 2 2
  • LOH11CR1K 3
  • Hs.78846 3
  • HSP27 3
  • HspB2 4

External Ids for HSPB2 Gene

Previous GeneCards Identifiers for HSPB2 Gene

  • GC11P114136
  • GC11P113295
  • GC11P111817
  • GC11P111320
  • GC11P111321
  • GC11P111288
  • GC11P111782
  • GC11P107707

Summaries for HSPB2 Gene

Entrez Gene Summary for HSPB2 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 protein is expressed preferentially in the heart and skeletal muscle. This protein regulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012]

GeneCards Summary for HSPB2 Gene

HSPB2 (Heat Shock Protein Family B (Small) Member 2) is a Protein Coding gene. Diseases associated with HSPB2 include Cataract and Cataract 16, Multiple Types. Among its related pathways are Proteoglycans in cancer and Epstein-Barr virus infection. Gene Ontology (GO) annotations related to this gene include enzyme activator activity. An important paralog of this gene is HSPB2-C11orf52.

UniProtKB/Swiss-Prot for HSPB2 Gene

  • May regulate the kinase DMPK.

Gene Wiki entry for HSPB2 Gene

Additional gene information for HSPB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPB2 Gene

Genomics for HSPB2 Gene

GeneHancer (GH) Regulatory Elements for HSPB2 Gene

Promoters and enhancers for HSPB2 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
GH11J111908 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.4 -439 6.3 HDAC1 HDGF NFXL1 TCF12 GATA2 SCRT2 CREM ZNF263 RXRA ZBTB2 C11orf52 HSPB2 HSPB2-C11orf52 CRYAB PPP2R1B DLAT RPL37AP8
GH11J111934 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 +27.8 27823 11.8 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 DIXDC1 BCO2 PPP2R1B SDHD C11orf52 HSPB2 HSPB2-C11orf52 ENSG00000255292 TIMM8B FDXACB1
GH11J111974 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 +64.8 64752 5 PKNOX1 KLF17 MZF1 SIN3A FEZF1 RAD21 ZNF335 GLIS2 ELK1 SCRT2 DIXDC1 C11orf52 PPP2R1B CRYAB HSPB2 HSPB2-C11orf52 SDHD SIK2 ENSG00000255286 ENSG00000255334
GH11J111870 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.6 -40.9 -40920 2.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF207 ALG9 C11orf1 PPP2R1B DIXDC1 HSPB2 HSPB2-C11orf52 C11orf52 CRYAB NKAPD1 PIH1D2
GH11J111981 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.5 +70.7 70659 2.9 HDAC1 FOXA2 ARNT ARID4B SIN3A RAD21 YY1 ZNF766 ARID2 ATF7 RNA5SP351 DIXDC1 CRYAB C11orf52 HSPB2 HSPB2-C11orf52 PPP2R1B ENSG00000255334 ENSG00000255286
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSPB2 gene promoter:
  • Sp1
  • NF-kappaB
  • NF-kappaB1
  • c-Myc
  • Max1
  • HFH-3
  • FOXI1

Genomic Locations for HSPB2 Gene

Genomic Locations for HSPB2 Gene
chr11:111,912,242-111,914,093
(GRCh38/hg38)
Size:
1,852 bases
Orientation:
Plus strand
chr11:111,782,966-111,789,574
(GRCh37/hg19)
Size:
6,609 bases
Orientation:
Plus strand

Genomic View for HSPB2 Gene

Genes around HSPB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPB2 Gene

Proteins for HSPB2 Gene

  • Protein details for HSPB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16082-HSPB2_HUMAN
    Recommended name:
    Heat shock protein beta-2
    Protein Accession:
    Q16082
    Secondary Accessions:
    • Q6I9U7

    Protein attributes for HSPB2 Gene

    Size:
    182 amino acids
    Molecular mass:
    20233 Da
    Quaternary structure:
    • Interacts with DMPK; may enhance its kinase activity.

neXtProt entry for HSPB2 Gene

Post-translational modifications for HSPB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSPB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HSPB2 Gene

Domains & Families for HSPB2 Gene

Gene Families for HSPB2 Gene

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

Protein Domains for HSPB2 Gene

Suggested Antigen Peptide Sequences for HSPB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q16082

UniProtKB/Swiss-Prot:

HSPB2_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 HSPB2: view

Function for HSPB2 Gene

Molecular function for HSPB2 Gene

UniProtKB/Swiss-Prot Function:
May regulate the kinase DMPK.
GENATLAS Biochemistry:
heat shock protein 2,located near the 5 flanking region of the CRYAB gene in a head to orientation manner,expressed in muscle and heart,localized to the cross sections of individual myofibrils at the Z membrane as well as at the neuromuscular junction,complexing with HSPB3 during myogenic differentiation,binding and activating MDPK,may be involved in the pathogenesis of DM,not induced by heat shock,potentially involved in chaperone activity and maintenance of cytoskeletal network in muscle,alpha crystallin/small hsp family

Gene Ontology (GO) - Molecular Function for HSPB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14594798
GO:0008047 enzyme activator activity TAS 9490724
genes like me logo Genes that share ontologies with HSPB2: view
genes like me logo Genes that share phenotypes with HSPB2: view

Animal Models for HSPB2 Gene

MGI Knock Outs for HSPB2:
  • Hspb2 Hspb2<tm1.1(KOMP)Vlcg>

Animal Model Products

miRNA for HSPB2 Gene

miRTarBase miRNAs that target HSPB2

Clone Products

  • Addgene plasmids for HSPB2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSPB2 Gene

Localization for HSPB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPB2 Gene

Cytoplasm. Nucleus. Note=Localizes to nuclear foci.

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 HSPB2 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for HSPB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 19464326
GO:0005737 cytoplasm IEA,IDA 19464326
GO:0005829 cytosol TAS 9490724
genes like me logo Genes that share ontologies with HSPB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSPB2 Gene

Pathways & Interactions for HSPB2 Gene

genes like me logo Genes that share pathways with HSPB2: view

Pathways by source for HSPB2 Gene

2 BioSystems pathways for HSPB2 Gene
2 KEGG pathways for HSPB2 Gene

Gene Ontology (GO) - Biological Process for HSPB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006986 response to unfolded protein NAS 9344664
GO:0043085 positive regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with HSPB2: view

No data available for SIGNOR curated interactions for HSPB2 Gene

Drugs & Compounds for HSPB2 Gene

(22) Drugs for HSPB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(12) Additional Compounds for HSPB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HSPB2: view

Transcripts for HSPB2 Gene

mRNA/cDNA for HSPB2 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(86) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HSPB2 Gene

Heat shock 27kDa protein 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for HSPB2

Alternative Splicing Database (ASD) splice patterns (SP) for HSPB2 Gene

No ASD Table

Relevant External Links for HSPB2 Gene

GeneLoc Exon Structure for
HSPB2
ECgene alternative splicing isoforms for
HSPB2

Expression for HSPB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSPB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HSPB2 Gene

This gene is overexpressed in Fetal heart (25.0), Tonsil (18.9), and Heart (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSPB2 Gene



Protein tissue co-expression partners for HSPB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of HSPB2 Gene:

HSPB2

SOURCE GeneReport for Unigene cluster for HSPB2 Gene:

Hs.709660

mRNA Expression by UniProt/SwissProt for HSPB2 Gene:

Q16082-HSPB2_HUMAN
Tissue specificity: Expressed preferentially in skeletal muscle and heart but not in the lens.

Evidence on tissue expression from TISSUES for HSPB2 Gene

  • Muscle(4.5)
  • Heart(2.2)
  • Nervous system(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with HSPB2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPB2 Gene

Orthologs for HSPB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HSPB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
HSPB2 33
  • 90.84 (n)
rat
(Rattus norvegicus)
Mammalia Hspb2 33
  • 92.53 (n)
mouse
(Mus musculus)
Mammalia Hspb2 16 34 33
  • 91.52 (n)
cow
(Bos Taurus)
Mammalia HSPB2 34 33
  • 91.11 (n)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
OneToMany
chicken
(Gallus gallus)
Aves HSPB2 34 33
  • 65.41 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hspb2 33
  • 56.73 (n)
zebrafish
(Danio rerio)
Actinopterygii hspb2 34 33
  • 56.94 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta l(2)efl 34
  • 28 (a)
ManyToMany
CG7409 34
  • 25 (a)
ManyToMany
Hsp23 34
  • 25 (a)
ManyToMany
Hsp27 34
  • 23 (a)
ManyToMany
Hsp26 34
  • 21 (a)
ManyToMany
Hsp22 34
  • 21 (a)
ManyToMany
Hsp67Bc 34
  • 21 (a)
ManyToMany
CG4461 34
  • 20 (a)
ManyToMany
CG14207 34
  • 19 (a)
ManyToMany
CG13133 34
  • 18 (a)
ManyToMany
Hsp67Ba 34
  • 11 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea hsp-12.2 34
  • 30 (a)
ManyToMany
F08H9.4 34
  • 29 (a)
ManyToMany
hsp-12.1 34
  • 28 (a)
ManyToMany
hsp-12.6 34
  • 26 (a)
ManyToMany
hsp-16.2 34
  • 25 (a)
ManyToMany
hsp-16.11 34
  • 25 (a)
ManyToMany
hsp-16.1 34
  • 25 (a)
ManyToMany
hsp-16.48 34
  • 24 (a)
ManyToMany
hsp-16.49 34
  • 24 (a)
ManyToMany
hsp-16.41 34
  • 23 (a)
ManyToMany
hsp-17 34
  • 23 (a)
ManyToMany
hsp-12.3 34
  • 22 (a)
ManyToMany
Y55F3BR.6 34
  • 22 (a)
ManyToMany
F08H9.3 34
  • 20 (a)
ManyToMany
sip-1 34
  • 19 (a)
ManyToMany
hsp-25 34
  • 17 (a)
ManyToMany
hsp-43 34
  • 9 (a)
ManyToMany
Species where no ortholog for HSPB2 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)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for HSPB2 Gene

ENSEMBL:
Gene Tree for HSPB2 (if available)
TreeFam:
Gene Tree for HSPB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPB2: view image

Paralogs for HSPB2 Gene

Paralogs for HSPB2 Gene

(4) SIMAP similar genes for HSPB2 Gene using alignment to 2 proteins:

  • HSPB2_HUMAN
  • A8KAH6_HUMAN
genes like me logo Genes that share paralogs with HSPB2: view

Variants for HSPB2 Gene

Sequence variations from dbSNP and Humsavar for HSPB2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs149787233 uncertain-significance, likely-benign, not specified, Posterior polar cataract, Alpha-B crystallinopathy, Myofibrillar Myopathy, Dominant 111,911,609(+) G/A upstream_transcript_variant
rs2228387 benign, not specified, Dilated cardiomyopathy 1II, Cardiovascular phenotype, Alpha-B crystallinopathy, Posterior polar cataract, Myofibrillar Myopathy, Dominant 111,911,560(+) C/G/T upstream_transcript_variant
rs2234704 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Alpha-B crystallinopathy, Myofibrillar Myopathy, Dominant, Posterior polar cataract, Dilated cardiomyopathy 1II 111,911,573(+) G/A upstream_transcript_variant
rs281865141 pathogenic, Alpha-B crystallinopathy 111,911,665(+) GGGGG/GGGG upstream_transcript_variant
rs374981255 likely-benign, Dilated cardiomyopathy 1II 111,911,605(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HSPB2 Gene

Variant ID Type Subtype PubMed ID
nsv1070987 CNV deletion 25765185

Variation tolerance for HSPB2 Gene

Residual Variation Intolerance Score: 61.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPB2 Gene

Disorders for HSPB2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HSPB2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract
  • cataracts
cataract 16, multiple types
  • ctrct16
corticobasal degeneration
  • cbgd
charcot-marie-tooth disease, axonal, type 2l
  • cmt2l
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search HSPB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HSPB2

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 HSPB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSPB2 Gene

Publications for HSPB2 Gene

  1. MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. (PMID: 9490724) Suzuki A … Ohno S (The Journal of cell biology 1998) 2 3 4 22 58
  2. Identification and characterization of the gene encoding a new member of the alpha-crystallin/small hsp family, closely linked to the alphaB-crystallin gene in a head-to-head manner. (PMID: 9344664) Iwaki A … Fukumaki Y (Genomics 1997) 2 3 4 58
  3. Heat shock protein 27 confers resistance to androgen ablation and chemotherapy in prostate cancer cells through eIF4E. (PMID: 20101233) Andrieu C … Rocchi P (Oncogene 2010) 3 22 58
  4. Analysis of multiple candidate genes in association with phenotypes of multiple sclerosis. (PMID: 20378664) Sombekke MH … Uitdehaag BM (Multiple sclerosis (Houndmills, Basingstoke, England) 2010) 3 44 58
  5. HSPB7 is a SC35 speckle resident small heat shock protein. (PMID: 19464326) Vos MJ … Kampinga HH (Biochimica et biophysica acta 2009) 3 4 58

Products for HSPB2 Gene

  • Addgene plasmids for HSPB2

Sources for HSPB2 Gene

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