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Set Analyses:

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HSPB7 Gene

protein-coding GIFtS: 55
GCID: GC01M016340

Heat Shock 27kDa Protein Family, Member 7 (Cardiovascular)

(Previous names: heat shock 27kD protein family, member 7 (cardiovascular))

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Heat Shock 27kDa Protein Family, Member 7 (Cardiovascular)¹ ²		cvHSP²
Heat Shock 27kD Protein Family, Member 7 (Cardiovascular)¹ ²		Heat Shock Protein Beta-7²
Cardiovascular Heat Shock Protein² ³		HspB7³
CVHSP³ ⁵		cvHsp³

External Ids:	HGNC: 5249¹	Entrez Gene: 27129²	Ensembl: ENSG00000173641⁷	OMIM: 610692⁵	UniProtKB: Q9UBY9³

ORGUL members:

Export aliases for HSPB7 gene to outside databases

Previous GC identifers: GC01M015737 GC01M015519 GC01M9E0029 GC01M015703 GC01M016085 GC01M016213 GC01M014859

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HSPB7 Gene:

HSPB7 (heat shock 27kDa protein family, member 7 (cardiovascular)) is a protein-coding gene. Diseases associated with HSPB7 include duchenne muscular dystrophy, and dilated cardiomyopathy. GO annotations related to this gene include protein C-terminus binding.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000001.11 NC_018912.2 NT_032977.10

Regulatory elements:

Regulatory transcription factor binding sites in the HSPB7 gene promoter:
SRF USF1 SRF (504 AA) Nkx2-5 E47 HEN1 PPAR-gamma1 USF-1 PPAR-gamma2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HSPB7 promoter sequence

Search Chromatin IP Primers for HSPB7

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSPB7

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.23-p34.3 Ensembl cytogenetic band: 1p36.13 HGNC cytogenetic band: 1p36.23-p34.3

HSPB7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSPB7 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M016340: view genomic region (about GC identifiers)

Start:	16,340,523 bp from pter	End:	16,346,089 bp from pter
Size:	5,567 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HSPB7_HUMAN, Q9UBY9 (See protein sequence)

Recommended Name: Heat shock protein beta-7

Size: 170 amino acids; 18611 Da

Subunit: Interacts with C-terminal domain of actin-binding protein 280

Secondary accessions: B3KQ37 C9K0Y0 Q9NU17

Alternative splicing: 3 isoforms: Q9UBY9-1 Q9UBY9-2 Q9UBY9-3 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for HSPB7: NX_Q9UBY9

Explore proteomics data for HSPB7 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See HSPB7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_055239.1

ENSEMBL proteins:

ENSP00000391578 ENSP00000310111 ENSP00000364870 ENSP00000417966 ENSP00000419477

ENSP00000385472 ENSP00000445013

HSPB7 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for HSPB7 OriGene Protein Over-expression Lysate for HSPB7 OriGene MassSpec for HSPB7 OriGene Custom Protein Services for HSPB7
	GenScript Custom Purified and Recombinant Proteins Services for HSPB7
	Novus Biologicals HSPB7 Proteins Novus Biologicals HSPB7 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for HSPB7
	Browse Proteins at Cloud-Clone Corp.

HSPB7 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	OriGene Antibodies for HSPB7 OriGene Custom Antibody Services for HSPB7
	Novus Biologicals HSPB7 Antibodies
	Abcam antibodies for HSPB7
	Browse Antibodies at Cloud-Clone Corp.
	Search ThermoFisher Antibodies for HSPB7
	LSBio Antibodies in human, mouse, rat for HSPB7

HSPB7 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for HSPB7
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HSPB7
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

HSPB: Heat shock proteins / HSPB

3 InterPro protein domains:

IPR002068 a-crystallin/Hsp20_dom

IPR008978 HSP20-like_chaperone

IPR001436 Alpha-crystallin/HSP

Graphical View of Domain Structure for InterPro Entry Q9UBY9

ProtoNet protein and cluster: Q9UBY9

1 Blocks protein domain: IPB002068 Heat shock protein Hsp20

UniProtKB/Swiss-Prot: HSPB7_HUMAN, Q9UBY9

Similarity: Belongs to the small heat shock protein (HSP20) family

HSPB7 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

Genatlas biochemistry entry for HSPB7:

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

Gene Ontology (GO): 3 molecular function terms: About this table

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	--

HSPB7 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for HSPB7:

Decreased POU5F1-GFP protein e

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HSPB7

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HSPB7

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSPB7

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HSPB7

miRNA Products:		miRTarBase miRNAs that target HSPB7: hsa-mir-98-5p (MIRT027658), hsa-mir-124-3p (MIRT022635), hsa-mir-26b-5p (MIRT029397)

		Block miRNA regulation of human, mouse, rat HSPB7 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate HSPB7 (see all 10):
		hsa-miR-615-5p hsa-miR-548d-3p hsa-miR-146b-3p hsa-miR-548s hsa-miR-320e hsa-miR-143 hsa-miR-1207-3p hsa-miR-4276

		SwitchGear 3'UTR luciferase reporter plasmid: HSPB7 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for HSPB7
		Predesigned siRNA for gene silencing in human, mouse, rat HSPB7

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HSPB7

Clone Products:		OriGene clones in human, mouse for HSPB7 (see all 5) OriGene ORF clones in mouse, rat for HSPB7 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HSPB7 (NM_014424)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB7
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB7

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HSPB7
		Browse ESI BIO Cell Lines and PureStem Progenitors for HSPB7

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB7

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

HSPB7_HUMAN, Q9UBY9: Cytoplasm. Nucleus. Nucleus, Cajal body. Note=Resides in sub-nuclear structures known as

SC35 speckles or nuclear splicing speckles

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	3
mitochondrion	2
cytoskeleton	1

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Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	19464326
GO:0005737	cytoplasm	IDA	19464326
GO:0005739	mitochondrion	IEA	--
GO:0015030	Cajal body	IEA	--
GO:0015629	actin cytoskeleton	IEA	--

HSPB7 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Pathway & Disease-focused RT² Profiler PCR Arrays including HSPB7:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Heat Shock Proteins & Chaperones in human mouse rat

Interactions:

GeneGlobe Interaction Network for HSPB7

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for HSPB7 (Q9UBY9^{1, 3} ENSP00000310111⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HSPB8	Q9UJY1¹^,³, ENSP00000281938⁴	EBI-739361,EBI-739074 I2D: score=3 STRING: ENSP00000281938
KTI12	ENSP00000360676⁴	STRING: ENSP00000360676
NRD1	ENSP00000346890⁴	STRING: ENSP00000346890
HSPA4	ENSP00000302961⁴	STRING: ENSP00000302961

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Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006950	response to stress	--	--
GO:0006986	response to unfolded protein	TAS	10593960
GO:0008016	regulation of heart contraction	TAS	10593960

HSPB7 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for HSPB7

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for HSPB7 gene:

NM_014424.4

Unigene Cluster for HSPB7:

Heat shock 27kDa protein family, member 7 (cardiovascular)

Hs.502612 [show with all ESTs]

Unigene Representative Sequence: NM_014424

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000411503 ENST00000442459 ENST00000311890(uc001axo.2 uc001axp.2 uc001axq.2 uc001axr.2)

ENST00000375718(uc001axs.2) ENST00000463576 ENST00000487046 ENST00000406363

ENST00000545268

miRNA Products:		Block miRNA regulation of human, mouse, rat HSPB7 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate HSPB7 (see all 10):
		hsa-miR-615-5p hsa-miR-548d-3p hsa-miR-146b-3p hsa-miR-548s hsa-miR-320e hsa-miR-143 hsa-miR-1207-3p hsa-miR-4276

		SwitchGear 3'UTR luciferase reporter plasmid: HSPB7 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for HSPB7
		Predesigned siRNA for gene silencing in human, mouse, rat HSPB7

Clone Products:		OriGene clones in human, mouse for HSPB7 (see all 5) OriGene ORF clones in mouse, rat for HSPB7 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HSPB7 (NM_014424)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB7
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB7

Primer Products:		OriGene qPCR primer pairs and template standards for HSPB7 OriGene qSTAR qPCR primer pairs in human, mouse for HSPB7
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat HSPB7
		QuantiTect SYBR Green Assays in human, mouse, rat HSPB7
		QuantiFast Probe-based Assays in human, mouse, rat HSPB7

Additional mRNA sequence:

AF155908.1 AJ243191.1 AK057295.1 AK075151.1 AK092275.1 AK095911.1 AK296598.1 AL832181.1

BC006319.2 BX537990.1 CR749298.1 CR749419.1

21 DOTS entries:

DT.99934771 DT.218265 DT.100786570 DT.100786572 DT.97765030 DT.40129503 DT.40305217 DT.121415000

DT.75103990 DT.121414998 DT.95201047 DT.95201050 DT.99957297 DT.121415002 DT.121415182 DT.121415197

DT.91721953 DT.91752336 DT.95201045 DT.95201019 DT.95238349

Selected AceView cDNA sequences (see all 258):

BQ637483 AL694275 CF552429 C04451 CA424992 CB267862 AI479356 AI828028

AI334158 AA723983 CB267751 T32631 AW082736 BX503032 AK092275 BF509719

AA770460 BE250170 AI745224 AJ710844 AF155908 AJ708165 CR749298 BV203412

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for HSPB7 (see all 10) About this scheme

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:

ECgene alternative splicing isoforms for HSPB7

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HSPB7 expression in normal human tissues (normalized intensities) HSPB7 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCTCTCTGGT

About this image

HSPB7 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 10) fully expand


Bone (Muscoskeletal System) fully expand to see all 4 entries
HyStem+TGFbeta3+GDF5-induced MEL2 cells

Cartilage (Muscoskeletal System) fully expand to see all 3 entries
HyStem+TGFbeta3+GDF5-induced MEL2 cells

Brain (Nervous System) fully expand to see all 3 entries
Cerebral Cortex

Neural Tube (Nervous System) fully expand to see all 2 entries
Metencephalon

Adipose (Muscoskeletal System)
Visceral White Adipocytes Visceral White Adipose

HSPB7 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

HSPB7 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.502612

UniProtKB/Swiss-Prot: HSPB7_HUMAN, Q9UBY9

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

Pathway & Disease-focused RT² Profiler PCR Arrays including HSPB7:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Heat Shock Proteins & Chaperones in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for HSPB7 OriGene qSTAR qPCR primer pairs in human, mouse for HSPB7
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat HSPB7
		QuantiTect SYBR Green Assays in human, mouse, rat HSPB7
		QuantiFast Probe-based Assays in human, mouse, rat HSPB7

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB7

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for HSPB7 gene from Selected species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Hspb7^{1 , 5}	heat shock protein family, member 7 (cardiovascular)^{1, 5}	86.79(n)¹ 94.08(a)¹		4 (74.08 cM)⁵ 29818¹ NM_013868.4¹ NP_038896.2¹ 141420779⁵
chicken (Gallus gallus)	Aves	HSPB7¹	heat shock 27kDa protein family, member 7 (cardiovascular)	77.12(n) 77.97(a)		430280 XM_427836.4 XP_427836.2
lizard (Anolis carolinensis)	Reptilia	HSPB7⁶	heat shock 27kDa protein family, member 7 (cardiov...	68(a)	1 ↔ 1	GL343609.1(348103-351257)
African clawed frog (Xenopus laevis)	Amphibia	Xl.2603²	Xenopus laevis transcribed sequence with weak similarity more	74.06(n)		BG371242.1
zebrafish (Danio rerio)	Actinopterygii	hspb7¹	heat shock protein family, alpha-crystallin-related, more	65.42(n) 66.46(a)		450019 NM_001006040.1 NP_001006040.1

ENSEMBL Gene Tree for HSPB7 (if available)
TreeFam Gene Tree for HSPB7 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for HSPB7 gene

2 SIMAP similar genes for HSPB7 using alignment to 5 protein entries: HSPB7_HUMAN (see all proteins):

DKFZp686A14192 DKFZp779D0968

HSPB7 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs60147323^1,2	C	--	16340048(+)	`GGACAC/-CCCCC`	1	--	int¹		1		NA	2
rs112621776^1,2	C,F	--	16340078(+)	`CTTTGC/TCTCTG`	1	--	int¹		2		NA	122
rs111397534^1,2	F	--	16340190(+)	`GCCCAG/CCTTTG`	1	--	int¹		1		CSA	2
rs113462795^1,2	C	--	16340217(+)	`CTGAA-/ACAGT GCTTGGCAACAG`	1	--	cds¹		1		CSA	2
rs57972221^1,2	C	--	16340224(+)	`AGTGCTTGGCAC AGTGC/-CCGCC`	1	--	cds¹		1		NA	2
rs147980756^1,2	C	--	16340264(+)	`GGAAAG/TAAATA`	1	--	int¹		0	--	--	--	--
rs140738233^1,2	C	--	16340306(+)	`AAGGTG/TTTGCA`	1	--	int¹		0	--	--	--	--
rs150110485^1,2		--	16340384(+)	`AGGAAC/TGCCCA`	1	--	int¹		0	--	--	--	--
rs1763601^1,2	C,F,H	--	16340460(-)	`AGAAAA/CAGACA`	1	--	int¹		30		MN EA NA NS WA CSA	4389
rs111926460^1,2	C	--	16340522(+)	`CCAGAT/AGTCTG`	1	--	spd¹		1		CSA	1

HapMap Linkage Disequilibrium report for HSPB7 (16340523 - 16346089 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for HSPB7 (see all 14): About this table

Variant ID	Type	Subtype	PubMed ID
nsv508936	CNV	Insertion	20534489
dgv176n71	CNV	Loss	21882294
dgv12n27	CNV	Loss	19166990
dgv174n71	CNV	Loss	21882294
nsv871485	CNV	Loss	21882294
nsv470698	CNV	Loss	18288195
nsv871695	CNV	Loss	21882294
nsv524045	CNV	Loss	19592680
nsv520148	CNV	Loss	19592680
nsv871162	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): HSPB7

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing HSPB7

DNA2.0 Custom Variant and Variant Library Synthesis for HSPB7

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 610692 OMIM disorders: --

4 diseases for HSPB7: About MalaCards

duchenne muscular dystrophy dilated cardiomyopathy muscular dystrophy cerebritis

HSPB7 for disorders About GeneDecksing

Genetic Association Database (GAD): HSPB7
Human Genome Epidemiology (HuGE) Navigator: HSPB7 (6 documents)

Export disorders for HSPB7 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for HSPB7 gene, integrated from 10 sources (see all 19):
(articles sorted by number of sources associating them with HSPB7)

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Identification and characterization of cvHsp. A novel human small stress protein selectively expressed in cardiovascular and insulin- sensitive tissues. (PubMed id 10593960)^{1, 2, 3} Krief S.... Bril A. (J. Biol. Chem. 1999)
Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. (PubMed id 20975947)^{1, 4} Stark K....Hengstenberg C. (PLoS Genet. 2010)
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
HSPB7 is a SC35 speckle resident small heat shock protein. (PubMed id 19464326)^{1, 2} Vos M.J.... Kampinga H.H. (Biochim. Biophys. Acta 2009)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (Nature 2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Association of plasma concentration of small heat shock protein B7 with acute coronary syndrome. (PubMed id 22785082)¹ Chiu T.F....Yang R.B. (Circ. J. 2012)
HSPB1, HSPB6, HSPB7 and HSPB8 protect against RhoA GTPase-induced remodeling in tachypaced atrial myocytes. (PubMed id 21731611)¹ Ke L....Brundel B.J. (PLoS ONE 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 27129	HGNC: 5249	AceView: HSPB7	Ensembl:ENSG00000173641	euGenes: HUgn27129
ECgene: HSPB7	H-InvDB: HSPB7

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HSPB7	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for HSPB7	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for HSPB7 gene
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Patent Information for HSPB7 gene:
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HSPB7 Gene

Heat Shock 27kDa Protein Family, Member 7 (Cardiovascular)

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HSPB7 Gene

Heat Shock 27kDa Protein Family, Member 7 (Cardiovascular)

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