Human Gene HSPB7 (uc001axs.2)
  Description: Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.
RefSeq Summary (NM_014424): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:16,340,523-16,346,089 Size: 5,567 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr1:16,342,075-16,345,964 Size: 3,890 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:16,340,523-16,346,089)mRNA (may differ from genome)Protein (245 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q8N241_HUMAN
DESCRIPTION: SubName: Full=Heat shock 27kDa protein family, member 7 (Cardiovascular); SubName: Full=Heat shock 27kDa protein family, member 7 (Cardiovascular), isoform CRA_c; SubName: Full=Heat shock protein beta-7; SubName: Full=cDNA FLJ34956 fis, clone NTONG2003158, highly similar to Heat shock 27kD protein family, member 7;
SIMILARITY: Belongs to the small heat shock protein (HSP20) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HSPB7
CDC HuGE Published Literature: HSPB7

-  MalaCards Disease Associations
  MalaCards Gene Search: HSPB7
Diseases sorted by gene-association score: central sleep apnea (16), systolic heart failure (10), renal cell carcinoma (2), dilated cardiomyopathy (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1123.79 RPKM in Heart - Left Ventricle
Total median expression: 3459.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.00125-0.224 Picture PostScript Text
3' UTR -652.201552-0.420 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002068 - a-crystallin/Hsp20_dom
IPR001436 - Alpha-crystallin/HSP
IPR008978 - HSP20-like_chaperone

Pfam Domains:
PF00011 - Hsp20/alpha crystallin family

SCOP Domains:
49764 - HSP20-like chaperones

ModBase Predicted Comparative 3D Structure on Q8N241
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007507 heart development

Cellular Component:
GO:0005654 nucleoplasm
GO:0016235 aggresome


-  Descriptions from all associated GenBank mRNAs
  CR749298 - Homo sapiens mRNA; cDNA DKFZp686I17254 (from clone DKFZp686I17254).
AF155908 - Homo sapiens cardiovascular heat shock protein mRNA, complete cds.
AJ243191 - Homo sapiens mRNA for cardiovascular heat shock protein.
BX537990 - Homo sapiens mRNA; cDNA DKFZp686A14192 (from clone DKFZp686A14192); complete cds.
CR749419 - Homo sapiens mRNA; cDNA DKFZp779D0968 (from clone DKFZp779D0968).
BC006319 - Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular), mRNA (cDNA clone MGC:12642 IMAGE:4131506), complete cds.
AK075151 - Homo sapiens cDNA FLJ90670 fis, clone PLACE1005539, highly similar to Heat-shock protein beta-7.
AK095911 - Homo sapiens cDNA FLJ38592 fis, clone HEART1000185, highly similar to Homo sapiens mRNA for cardiovascular heat shock protein.
AL832181 - Homo sapiens mRNA; cDNA DKFZp686P1416 (from clone DKFZp686P1416).
AK092275 - Homo sapiens cDNA FLJ34956 fis, clone NTONG2003158, highly similar to Heat shock 27kD protein family, member 7.
AX747447 - Sequence 972 from Patent EP1308459.
JD177995 - Sequence 159019 from Patent EP1572962.
JD396980 - Sequence 378004 from Patent EP1572962.
JD519379 - Sequence 500403 from Patent EP1572962.
JD362560 - Sequence 343584 from Patent EP1572962.
JD499269 - Sequence 480293 from Patent EP1572962.
JD220424 - Sequence 201448 from Patent EP1572962.
JD078038 - Sequence 59062 from Patent EP1572962.
JD309751 - Sequence 290775 from Patent EP1572962.
JD102643 - Sequence 83667 from Patent EP1572962.
JD098964 - Sequence 79988 from Patent EP1572962.
JD235654 - Sequence 216678 from Patent EP1572962.
JD203086 - Sequence 184110 from Patent EP1572962.
JD195211 - Sequence 176235 from Patent EP1572962.
JD237332 - Sequence 218356 from Patent EP1572962.
JD093869 - Sequence 74893 from Patent EP1572962.
JD206078 - Sequence 187102 from Patent EP1572962.
JD304792 - Sequence 285816 from Patent EP1572962.
JD187921 - Sequence 168945 from Patent EP1572962.
JD252786 - Sequence 233810 from Patent EP1572962.
JD501033 - Sequence 482057 from Patent EP1572962.
JD402690 - Sequence 383714 from Patent EP1572962.
JD037353 - Sequence 18377 from Patent EP1572962.
AK296598 - Homo sapiens cDNA FLJ60639 complete cds, highly similar to Mps one binder kinase activator-like 2.
JD289396 - Sequence 270420 from Patent EP1572962.
AK057295 - Homo sapiens cDNA FLJ32733 fis, clone TESTI2001153, highly similar to Heat-shock protein beta-7.
JD335005 - Sequence 316029 from Patent EP1572962.
JD103949 - Sequence 84973 from Patent EP1572962.
JD190366 - Sequence 171390 from Patent EP1572962.
JD342982 - Sequence 324006 from Patent EP1572962.
JD450343 - Sequence 431367 from Patent EP1572962.
JD224248 - Sequence 205272 from Patent EP1572962.
JD480329 - Sequence 461353 from Patent EP1572962.
JD100325 - Sequence 81349 from Patent EP1572962.
JD371456 - Sequence 352480 from Patent EP1572962.
JD245647 - Sequence 226671 from Patent EP1572962.
EU831930 - Synthetic construct Homo sapiens clone HAIB:100066959; DKFZo008C0723 heat shock 27kDa protein family, member 7 (cardiovascular) protein (HSPB7) gene, encodes complete protein.
EU832025 - Synthetic construct Homo sapiens clone HAIB:100067054; DKFZo004C0724 heat shock 27kDa protein family, member 7 (cardiovascular) protein (HSPB7) gene, encodes complete protein.
KJ898665 - Synthetic construct Homo sapiens clone ccsbBroadEn_08059 HSPB7 gene, encodes complete protein.
DQ892716 - Synthetic construct clone IMAGE:100005346; FLH189057.01X; RZPDo839B0274D heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7) gene, encodes complete protein.
DQ895966 - Synthetic construct Homo sapiens clone IMAGE:100010426; FLH189053.01L; RZPDo839B0264D heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7) gene, encodes complete protein.
EU176383 - Synthetic construct Homo sapiens clone IMAGE:100006552; FLH263533.01X; RZPDo839H03252D heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7) gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: AX747447, hCG_23506, NM_014424, NP_055239, Q8N241, Q8N241_HUMAN, RP11-5P18.6-001
UCSC ID: uc001axs.2
RefSeq Accession: NM_014424
Protein: Q8N241

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AX747447.1
exon count: 4CDS single in 3' UTR: no RNA size: 2410
ORF size: 738CDS single in intron: no Alignment % ID: 99.63
txCdsPredict score: 1343.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.