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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 27kDa Protein 8 2 3
  • Heat Shock 22kDa Protein 8 2 3
  • E2-Induced Gene 1 Protein 3 4
  • Alpha-Crystallin C Chain 3 4
  • Protein Kinase H11 3 4
  • E2IG1 3 4
  • HSP22 3 4
  • Heat Shock Protein Beta-8 3
  • 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 Neuropathy, Distal Hereditary Motor, Type Iia and Charcot-Marie-Tooth Disease, Axonal, Type 2L. 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 for HSPB8 Gene

  • Displays temperature-dependent chaperone activity.

Gene Wiki entry for HSPB8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPB8 Gene

Genomics for HSPB8 Gene

Regulatory Elements for HSPB8 Gene

Enhancers for HSPB8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G119174 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.7 +0.7 743 9.4 PKNOX1 FOXA2 ATF1 SIN3A BRCA1 ZNF2 GLIS2 GATA2 FOS DEK LOC100287653 HSPB8 ENSG00000256609
GH12G119235 0.6 ENCODE 11.1 +56.9 56869 0.2 ZNF121 CTCF TEAD1 TEAD4 TEAD2 RAD21 TEAD3 LOC105370025 HSPB8 LOC105370024 GC12P119226
GH12G119236 0.6 ENCODE 11.1 +57.9 57912 0.9 GATA2 HDAC2 POLR2A MAX ETV6 FOS NR2F2 HSPB8 LOC105370024 GC12P119226 LOC105370025
GH12G119219 0.5 ENCODE 12.2 +41.5 41519 0.8 CTCF KDM1A REST RAD21 ENSG00000256609 HSPB8 LOC105370024 LOC105370026 GC12P119226
GH12G119201 1.1 Ensembl ENCODE dbSUPER 5.2 +25.0 24968 3.5 CTCF RNF2 MAFG REST EP300 CTBP2 KDM1A MAFK HSPB8 LOC100287653 LOC105370026
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSPB8 on UCSC Golden Path with GeneCards custom track

Promoters for HSPB8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000058206 1458 2601 TBP PKNOX1 SIN3A RFX5 ZNF366 RCOR1 FOS DEK CEBPB TSHZ1

Genomic Location for HSPB8 Gene

Chromosome:
12
Start:
119,178,642 bp from pter
End:
119,221,131 bp from pter
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.

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

  • Cell Signaling Technology (CST) Antibodies for HSPB8 (HSPB8)
  • Cloud-Clone Corp. Antibodies for HSPB8

No data available for DME Specific Peptides for HSPB8 Gene

Domains & Families for HSPB8 Gene

Gene Families for HSPB8 Gene

Suggested Antigen Peptide Sequences for HSPB8 Gene

GenScript: Design optimal peptide antigens:

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.

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
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HSPB8

Flow Cytometry Products

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
golgi apparatus 3
mitochondrion 2
extracellular 1
cytoskeleton 1
lysosome 1

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 IDA,IEA 19464326
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with HSPB8: view

Pathways & Interactions for HSPB8 Gene

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:0008150 biological_process ND --
GO:1900034 regulation of cellular response to heat TAS --
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

(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 :
(9) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HSPB8 Gene

Heat shock 22kDa protein 8:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HSPB8

Flow Cytometry Products

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, PaxDb, 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
Organs:
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

Primer Products

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 34 35
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia HSPB8 34 35
  • 90.48 (n)
dog
(Canis familiaris)
Mammalia HSPB8 34 35
  • 90.31 (n)
rat
(Rattus norvegicus)
Mammalia Hspb8 34
  • 88.61 (n)
mouse
(Mus musculus)
Mammalia Hspb8 34 16 35
  • 87.24 (n)
oppossum
(Monodelphis domestica)
Mammalia HSPB8 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPB8 34 35
  • 71.26 (n)
lizard
(Anolis carolinensis)
Reptilia HSPB8 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspb8 34
  • 64.29 (n)
Str.13095 34
African clawed frog
(Xenopus laevis)
Amphibia MGC64408 34
zebrafish
(Danio rerio)
Actinopterygii hspb8 34 35
  • 62.34 (n)
wufc09c11 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.195 35
  • 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)

Paralogs for HSPB8 Gene

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

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 Sequence Context AA Info Type
rs104894345 Pathogenic, Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] 119,187,080(+) ACAAA(C/G/T)AAAAT upstream-variant-2KB, reference, missense
rs104894351 Pathogenic, Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] 119,187,078(+) TCACA(A/G)AGAAA upstream-variant-2KB, reference, missense
VAR_042244 A glioblastoma multiforme sample
VAR_078133 Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]
VAR_078134 Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]

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)

Relevant External Links for HSPB8 Gene

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

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

Disorders for HSPB8 Gene

MalaCards: The human disease database

(18) MalaCards diseases for HSPB8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HSPB8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HSPB8_HUMAN
  • 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. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:15565283}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HSPB8

Genetic Association Database (GAD)
HSPB8
Human Genome Epidemiology (HuGE) Navigator
HSPB8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSPB8
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 C.C. … Aurelian L. (J. Biol. Chem. 2000) 2 3 4 22 64
  2. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. (PMID: 15122253) Irobi J. … Timmerman V. (Nat. Genet. 2004) 3 4 22 64
  3. Characterization of two novel human small heat shock proteins: protein kinase-related HspB8 and testis-specific HspB9. (PMID: 11470154) Kappe G. … de Jong W.W. (Biochim. Biophys. Acta 2001) 3 4 22 64
  4. Effects of estrogen on global gene expression: identification of novel targets of estrogen action. (PMID: 11085516) Charpentier A.H. … Aldaz C.M. (Cancer Res. 2000) 2 3 4 64
  5. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. (PMID: 22366786) Sarparanta J. … Udd B. (Nat. Genet. 2012) 3 4 64

Products for HSPB8 Gene

  • Cloud-Clone Corp. Antibodies for HSPB8
  • Cloud-Clone Corp. Proteins for HSPB8
  • Cloud-Clone Corp Assay Kits for HSPB8

Sources for HSPB8 Gene

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