Aliases for HSPB7 Gene
Aliases for HSPB7 Gene
External Ids for HSPB7 Gene
- HGNC: 5249
- Entrez Gene: 27129
- Ensembl: ENSG00000173641
- OMIM: 610692
- UniProtKB: Q9UBY9
Previous GeneCards Identifiers for HSPB7 Gene
- GC01M015737
- GC01M015519
- GC01M9E0029
- GC01M015703
- GC01M016085
- GC01M016213
- GC01M016340
- GC01M014859
Summaries 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 Systolic Heart Failure and Dilated Cardiomyopathy. Among its related pathways are Differentiation of white and brown adipocyte. GO annotations related to this gene include protein C-terminus binding and filamin binding.
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPB7 Gene
Genomics for HSPB7 Gene
Regulatory Elements for HSPB7 Gene
Enhancers for HSPB7 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HSPB7 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HSPB7 gene promoter:
Regulatory Element Products
Genomic Location for HSPB7 Gene
- Chromosome:
- 1
- Start:
- 16,014,028 bp from pter
- End:
- 16,019,594 bp from pter
- 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:
-
- 1p36.13 by Ensembl
- 1p36.13 by Entrez Gene
- 1p36.13 by HGNC
HSPB7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for HSPB7 Gene
Post-translational modifications for HSPB7 Gene
Other Protein References for HSPB7 Gene
Antibody Products
- Novus Biologicals Antibodies for HSPB7
-
Abcam antibodies for HSPB7
-
Cloud-Clone Corp. Antibodies for HSPB7
- Invitrogen Antibodies for HSPB7
- antibodies-online Antibodies for HSPB7: See all 36
- GeneTex HSPB7 antibody for HSPB7
-
Santa Cruz Biotechnology (SCBT) Antibodies for HSPB7
Protein Products
-
OriGene Purified Proteins for HSPB7
- Search Origene for MassSpec and Protein Over-expression Lysates for HSPB7
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- ProSpec Recombinant Proteins for HSPB7
-
Cloud-Clone Corp. Proteins for HSPB7
- antibodies-online Proteins for HSPB7: See all 15
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HSPB7
-
ProSci Proteins for HSPB7
-
Abcam proteins for HSPB7
No data available for DME Specific Peptides for HSPB7 Gene
Domains & Families for HSPB7 Gene
Gene Families for HSPB7 Gene
Protein Domains for HSPB7 Gene
- InterPro:
- Blocks:
- ProtoNet:
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- Family:
-
- Belongs to the small heat shock protein (HSP20) family.
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
| 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 | -- |
Phenotypes for HSPB7 Gene
- GenomeRNAi human phenotypes for HSPB7:
Animal Model Products
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-
ViGene Biosciences lentiviral particle packaged cDNA for HSPB7 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HSPB7 gene
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CRISPR Products
-
OriGene CRISPR knockouts for HSPB7
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSPB7
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miRNA for HSPB7 Gene
- miRTarBase miRNAs that target HSPB7
miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for HSPB7 gene
Clone Products
-
OriGene ORF clones in human for HSPB7
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Cell Line Products
-
Horizon Cell Lines for HSPB7
-
ViGene Biosciences adenoviral particle packaged cDNA for HSPB7 gene
-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 3 |
| mitochondrion | 3 |
| cytosol | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 19464326 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IDA,IEA | 19464326 |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0015030 | Cajal body | IEA | -- |
Pathways & Interactions for HSPB7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Differentiation of white and brown adipocyte | ||
Pathways by source for HSPB7 Gene
1 BioSystems pathway for HSPB7 Gene
Interacting Proteins for HSPB7 Gene
Selected Interacting proteins:
Q9UBY9-HSPB7_HUMAN
ENSP00000310111
for HSPB7 Gene via
IID
STRING
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006986 | response to unfolded protein | TAS | 10593960 |
| GO:0008016 | regulation of heart contraction | TAS | 10593960 |
No data available for SIGNOR curated interactions for HSPB7 Gene
Transcripts for HSPB7 Gene
mRNA/cDNA for HSPB7 Gene
- (10) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (258) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HSPB7 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HSPB7
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSPB7
- GenScript: Design CRISPR guide RNA sequences for HSPB7
miRNA Products
- Search ViGene Biosciences for HSPB7
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HSPB7
- Browse OriGene Inhibitory RNA Products For HSPB7
-
ViGene Biosciences ready-to-package AAV shRNAs for HSPB7 gene
Clone Products
-
OriGene ORF clones in human for HSPB7
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Flow Cytometry Products
| 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: |
Expression for HSPB7 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
- Brain (Nervous System)
- Cartilage (Muscoskeletal System)
- Neural Tube (Nervous System)
-
Adipose (Muscoskeletal System)
- Visceral White Adipocytes Visceral White Adipose
- Dermis (Integumentary System)
- Fibroblasts
- Heart (Cardiovascular System)
-
Uterus (Reproductive System)
-
Skeletal Muscle (Muscoskeletal System)
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).
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, PaxDb, MaxQB, and MOPED for HSPB7 Gene
NURSA nuclear receptor signaling pathways regulating expression of HSPB7 Gene:
HSPB7SOURCE GeneReport for Unigene cluster for HSPB7 Gene:
Hs.502612mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for HSPB7
-
OriGene qPCR primer pairs and template standards for HSPB7
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HSPB7 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HSPB7 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HSPB7 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hspb7 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hspb7 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HSPB7 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HSPB7 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HSPB7 35 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2603 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hspb7 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for HSPB7 Gene
(2) SIMAP similar genes for HSPB7 Gene using alignment to 5 proteins:
No data available for Paralogs for HSPB7 Gene
Variants for HSPB7 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs530970423 | Likely benign | 16,015,651(+) | GATAG(C/T)GAGGC | reference, missense | |
| rs1000133857 | -- | 16,014,592(+) | CAATG(C/G)TAATG | utr-variant-3-prime | |
| rs1000337469 | -- | 16,019,848(+) | CTGTC(A/G)TGGTG | upstream-variant-2KB | |
| rs1000504668 | -- | 16,020,106(+) | TTTTC(A/G)CAAAC | upstream-variant-2KB | |
| rs1000561368 | -- | 16,015,561(+) | CAGGG(A/C)AAGGG | utr-variant-3-prime |
| 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 |
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)
Relevant External Links for HSPB7 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPB7 Gene
Disorders for HSPB7 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| systolic heart failure |
|
|
| dilated cardiomyopathy |
|
|
Search HSPB7 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HSPB7
No data available for UniProtKB/Swiss-Prot and Genatlas for HSPB7 Gene
Publications for HSPB7 Gene
- 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. (J. Biol. Chem. 1999) 2 3 4 64
- 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
- Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. (PMID: 20975947) Stark K. … Hengstenberg C. (PLoS Genet. 2010) 3 46 64
- HSPB7 is a SC35 speckle resident small heat shock protein. (PMID: 19464326) Vos M.J. … Kampinga H.H. (Biochim. Biophys. Acta 2009) 3 4 64
Products for HSPB7 Gene
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- antibodies-online Antibodies for HSPB7: See all 36
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- GeneTex HSPB7 antibody for HSPB7
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- ViGene Biosciences adenoviral particle packaged cDNA for HSPB7 gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HSPB7 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
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- (8) Gene Wiki
- (9) UCSC
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- (24) DrugBank
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- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
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- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
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- (62) NCBI
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- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
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- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
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- (98) BioGPS
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- (100) COMPARTMENTS
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- (105) antibodies-online
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- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer