This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. [provided by RefSeq, Mar 2017] See more...

Aliases for HSPB7 Gene

Aliases for HSPB7 Gene

  • Heat Shock Protein Family B (Small) Member 7 2 3 5
  • Heat Shock 27kDa Protein Family, Member 7 (Cardiovascular) 2 3
  • Heat Shock 27kD Protein Family, Member 7 (Cardiovascular) 2 3
  • Cardiovascular Heat Shock Protein 3 4
  • Heat Shock Protein Beta-7 3 4
  • CvHSP 3
  • CVHSP 4
  • HspB7 4
  • CvHsp 4

External Ids for HSPB7 Gene

Previous GeneCards Identifiers for HSPB7 Gene

  • GC01M015737
  • GC01M015519
  • GC01M9E0029
  • GC01M015703
  • GC01M016085
  • GC01M016213
  • GC01M016340
  • GC01M014859

Summaries for HSPB7 Gene

Entrez Gene Summary for HSPB7 Gene

  • This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. [provided by RefSeq, Mar 2017]

GeneCards Summary for HSPB7 Gene

HSPB7 (Heat Shock Protein Family B (Small) Member 7) is a Protein Coding gene. Diseases associated with HSPB7 include Central Sleep Apnea and Systolic Heart Failure. Among its related pathways are Differentiation of white and brown adipocyte. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding and filamin binding. An important paralog of this gene is HSPB8.

Additional gene information for HSPB7 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSPB7 Gene

Genomics for HSPB7 Gene

GeneHancer (GH) Regulatory Elements for HSPB7 Gene

Promoters and enhancers for HSPB7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPB7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSPB7 gene promoter:
  • E47
  • HEN1
  • Nkx2-5
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2
  • SRF
  • SRF (504 AA)
  • USF-1
  • USF1

Genomic Locations for HSPB7 Gene

Genomic Locations for HSPB7 Gene
chr1:16,014,028-16,019,594
(GRCh38/hg38)
Size:
5,567 bases
Orientation:
Minus strand
chr1:16,340,523-16,346,089
(GRCh37/hg19)
Size:
5,567 bases
Orientation:
Minus strand

Genomic View for HSPB7 Gene

Genes around HSPB7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPB7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPB7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPB7 Gene

Proteins for HSPB7 Gene

  • Protein details for HSPB7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBY9-HSPB7_HUMAN
    Recommended name:
    Heat shock protein beta-7
    Protein Accession:
    Q9UBY9
    Secondary Accessions:
    • B3KQ37
    • C9K0Y0
    • Q9NU17

    Protein attributes for HSPB7 Gene

    Size:
    170 amino acids
    Molecular mass:
    18611 Da
    Quaternary structure:
    • Interacts with C-terminal domain of actin-binding protein 280.

    Alternative splice isoforms for HSPB7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSPB7 Gene

Post-translational modifications for HSPB7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for HSPB7
  • Santa Cruz Biotechnology (SCBT) Antibodies for HSPB7

No data available for DME Specific Peptides for HSPB7 Gene

Domains & Families for HSPB7 Gene

Gene Families for HSPB7 Gene

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

Suggested Antigen Peptide Sequences for HSPB7 Gene

GenScript: Design optimal peptide antigens:
  • Cardiovascular heat shock protein (HSPB7_HUMAN)
  • Heat shock 27kDa protein family, member 7 (Cardiovascular) (Q5T5Q0_HUMAN)
  • Heat shock 27kDa protein family, member 7 (Cardiovascular) (Q5T5Q1_HUMAN)
  • Heat shock 27kDa protein family, member 7 (Cardiovascular) (Q5T5Q2_HUMAN)
  • cDNA FLJ34956 fis, clone NTONG2003158, highly similar to Heat shock 27kD protein family, member 7 (Q8N241_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBY9

UniProtKB/Swiss-Prot:

HSPB7_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 HSPB7: view

Function for HSPB7 Gene

Molecular function for HSPB7 Gene

GENATLAS Biochemistry:
heat shock protein 7,highly expressed in heart,also expressed in skeletal muscle and at low levels in aorta and adipose tissues,interacting with alpha filamin,potentially involved in chaperone activity and maintenance of cytoskeletal network in muscle,alpha criltallin/small hsp family

Phenotypes From GWAS Catalog for HSPB7 Gene

Gene Ontology (GO) - Molecular Function for HSPB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14594798
GO:0008022 protein C-terminus binding TAS 10593960
GO:0031005 filamin binding IEA --
genes like me logo Genes that share ontologies with HSPB7: view
genes like me logo Genes that share phenotypes with HSPB7: view

Animal Models for HSPB7 Gene

MGI Knock Outs for HSPB7:

Animal Model Products

CRISPR Products

miRNA for HSPB7 Gene

miRTarBase miRNAs that target HSPB7

Clone Products

  • Addgene plasmids for HSPB7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSPB7 Gene

Localization for HSPB7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPB7 Gene

Cytoplasm. Nucleus. Nucleus, Cajal body. Note=Resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.

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 HSPB7 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HSPB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 19464326
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 19464326
GO:0015030 Cajal body IEA --
GO:0015629 actin cytoskeleton IEA --
genes like me logo Genes that share ontologies with HSPB7: view

Pathways & Interactions for HSPB7 Gene

PathCards logo

SuperPathways for HSPB7 Gene

genes like me logo Genes that share pathways with HSPB7: view

Pathways by source for HSPB7 Gene

1 BioSystems pathway for HSPB7 Gene

Gene Ontology (GO) - Biological Process for HSPB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006986 response to unfolded protein TAS 10593960
GO:0007507 heart development IEA --
GO:0008016 regulation of heart contraction TAS 10593960
genes like me logo Genes that share ontologies with HSPB7: view

No data available for SIGNOR curated interactions for HSPB7 Gene

Drugs & Compounds for HSPB7 Gene

No Compound Related Data Available

Transcripts for HSPB7 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for HSPB7

Alternative Splicing Database (ASD) splice patterns (SP) for HSPB7 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e · 4f · 4g · 4h · 4i · 4j
SP1: - - -
SP2: -
SP3:
SP4: -
SP5:
SP6: - -
SP7: - -
SP8: - -
SP9: -
SP10:

Relevant External Links for HSPB7 Gene

GeneLoc Exon Structure for
HSPB7
ECgene alternative splicing isoforms for
HSPB7

Expression for HSPB7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSPB7 Gene

mRNA differential expression in normal tissues according to GTEx for HSPB7 Gene

This gene is overexpressed in Heart - Left Ventricle (x20.3), Muscle - Skeletal (x8.6), and Heart - Atrial Appendage (x7.7).

Protein differential expression in normal tissues from HIPED for HSPB7 Gene

This gene is overexpressed in Heart (13.1), Fetal heart (12.3), Cardia (9.2), and Prostate (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSPB7 Gene



Protein tissue co-expression partners for HSPB7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSPB7 Gene:

HSPB7

SOURCE GeneReport for Unigene cluster for HSPB7 Gene:

Hs.502612

mRNA Expression by UniProt/SwissProt for HSPB7 Gene:

Q9UBY9-HSPB7_HUMAN
Tissue specificity: Isoform 1 is highly expressed in adult and fetal heart, skeletal muscle, and at a much lower levels in adipose tissue and in aorta. Undetectable in other tissues. Isoform 2 and isoform 3 are poorly detected in heart.

Evidence on tissue expression from TISSUES for HSPB7 Gene

  • Heart(5)
  • Muscle(4.8)
genes like me logo Genes that share expression patterns with HSPB7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPB7 Gene

Orthologs for HSPB7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HSPB7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPB7 33 32
  • 98.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HSPB7 33 32
  • 90.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HSPB7 33 32
  • 88.48 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hspb7 32
  • 87.57 (n)
mouse
(Mus musculus)
Mammalia Hspb7 17 33 32
  • 86.79 (n)
oppossum
(Monodelphis domestica)
Mammalia HSPB7 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPB7 33 32
  • 77.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSPB7 33
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2603 32
zebrafish
(Danio rerio)
Actinopterygii hspb7 33 32
  • 65.42 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 41 (a)
OneToOne
Species where no ortholog for HSPB7 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HSPB7 Gene

ENSEMBL:
Gene Tree for HSPB7 (if available)
TreeFam:
Gene Tree for HSPB7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPB7: view image

Paralogs for HSPB7 Gene

(2) SIMAP similar genes for HSPB7 Gene using alignment to 5 proteins:

  • HSPB7_HUMAN
  • C9J5A3_HUMAN
  • D3YTC6_HUMAN
  • F6SZA2_HUMAN
  • Q8N241_HUMAN
genes like me logo Genes that share paralogs with HSPB7: view

Variants for HSPB7 Gene

Sequence variations from dbSNP and Humsavar for HSPB7 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs530970423 likely-benign, Oromandibular-limb hypogenesis spectrum 16,015,651(-) T/C coding_sequence_variant, missense_variant
rs1000133857 -- 16,014,592(-) G/C 3_prime_UTR_variant
rs1000337469 -- 16,019,848(-) A/G upstream_transcript_variant
rs1000504668 -- 16,020,106(-) A/G upstream_transcript_variant
rs1000561368 -- 16,015,561(-) A/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for HSPB7 Gene

Variant ID Type Subtype PubMed ID
dgv12n27 CNV loss 19166990
dgv155n54 CNV gain 21841781
esv2760188 CNV gain+loss 21179565
nsv1161228 CNV duplication 26073780
nsv460629 CNV gain 19166990
nsv470698 CNV loss 18288195
nsv508936 CNV insertion 20534489
nsv517651 CNV gain+loss 19592680
nsv520148 CNV loss 19592680
nsv524045 CNV loss 19592680
nsv545627 CNV loss 21841781
nsv545628 CNV gain+loss 21841781
nsv833758 CNV gain+loss 17160897
nsv954844 CNV deletion 24416366
nsv997887 CNV gain 25217958

Variation tolerance for HSPB7 Gene

Residual Variation Intolerance Score: 52.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.70; 66.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPB7 Gene

Human Gene Mutation Database (HGMD)
HSPB7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPB7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPB7 Gene

Disorders for HSPB7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HSPB7 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
central sleep apnea
  • central sleep apnea syndrome
systolic heart failure
  • heart failure, systolic
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search HSPB7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HSPB7

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 HSPB7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSPB7 Gene

Publications for HSPB7 Gene

  1. Identification and characterization of cvHsp. A novel human small stress protein selectively expressed in cardiovascular and insulin-sensitive tissues. (PMID: 10593960) Krief S … Bril A (The Journal of biological chemistry 1999) 2 3 4 56
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  4. Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. (PMID: 20975947) Stark K … Hengstenberg C (PLoS genetics 2010) 3 43 56
  5. HSPB7 is a SC35 speckle resident small heat shock protein. (PMID: 19464326) Vos MJ … Kampinga HH (Biochimica et biophysica acta 2009) 3 4 56

Products for HSPB7 Gene

Sources for HSPB7 Gene