HSPB7 (heat shock protein family B (small) member 7) - Rat Genome Database

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Gene: HSPB7 (heat shock protein family B (small) member 7) Homo sapiens
Analyze
Symbol: HSPB7
Name: heat shock protein family B (small) member 7
RGD ID: 736091
HGNC Page HGNC:5249
Description: Predicted to enable filamin binding activity. Predicted to be involved in regulation of heart contraction and response to unfolded protein. Located in aggresome; cytoplasm; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cardiovascular heat shock protein; cvHSP; DKFZp779D0968; FLJ32733; heat shock 27kD protein family, member 7 (cardiovascular); heat shock 27kDa protein family member 7 (cardiovascular); heat shock 27kDa protein family, member 7 (cardiovascular); heat shock protein beta-7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,014,029 - 16,019,594 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,014,028 - 16,019,594 (-)EnsemblGRCh38hg38GRCh38
GRCh37116,340,524 - 16,346,089 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,213,111 - 16,217,538 (-)NCBINCBI36Build 36hg18NCBI36
Build 34116,085,830 - 16,090,257NCBI
Celera114,820,429 - 14,825,190 (-)NCBICelera
Cytogenetic Map1p36.13NCBI
HuRef114,859,583 - 14,864,344 (-)NCBIHuRef
CHM1_1116,139,026 - 16,143,787 (-)NCBICHM1_1
T2T-CHM13v2.0115,455,340 - 15,460,905 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(R)-pantothenic acid  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
acetamiprid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
curcumin  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (EXP)
genistein  (ISO)
gentamycin  (ISO)
imidacloprid  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
methylarsonic acid  (ISO)
nickel atom  (EXP)
niclosamide  (EXP)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pioglitazone  (ISO)
resveratrol  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sulforaphane  (EXP,ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
trovafloxacin  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
actin cytoskeleton  (IEA)
aggresome  (IDA)
Cajal body  (IEA)
cytoplasm  (IBA,IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Identification and characterization of cvHsp. A novel human small stress protein selectively expressed in cardiovascular and insulin-sensitive tissues. Krief S, etal., J Biol Chem 1999 Dec 17;274(51):36592-600.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14594798   PMID:14702039   PMID:15489334   PMID:16189514   PMID:16710414   PMID:19464326   PMID:19913121   PMID:20038796   PMID:20124441   PMID:20628086   PMID:20877624  
PMID:20975947   PMID:21731611   PMID:21832049   PMID:21873635   PMID:22785082   PMID:24585183   PMID:25416956   PMID:25889438   PMID:27441470   PMID:28514442   PMID:28827800   PMID:29331499  
PMID:29577611   PMID:30660137   PMID:32296183   PMID:33097082   PMID:33827396   PMID:33961781   PMID:35559673   PMID:35977674   PMID:37170285   PMID:37732539  


Genomics

Comparative Map Data
HSPB7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,014,029 - 16,019,594 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,014,028 - 16,019,594 (-)EnsemblGRCh38hg38GRCh38
GRCh37116,340,524 - 16,346,089 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,213,111 - 16,217,538 (-)NCBINCBI36Build 36hg18NCBI36
Build 34116,085,830 - 16,090,257NCBI
Celera114,820,429 - 14,825,190 (-)NCBICelera
Cytogenetic Map1p36.13NCBI
HuRef114,859,583 - 14,864,344 (-)NCBIHuRef
CHM1_1116,139,026 - 16,143,787 (-)NCBICHM1_1
T2T-CHM13v2.0115,455,340 - 15,460,905 (-)NCBIT2T-CHM13v2.0
Hspb7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394141,148,090 - 141,152,621 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4141,148,090 - 141,152,622 (+)EnsemblGRCm39 Ensembl
GRCm384141,420,779 - 141,425,310 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4141,420,779 - 141,425,311 (+)EnsemblGRCm38mm10GRCm38
MGSCv374140,976,694 - 140,981,225 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364140,692,855 - 140,697,386 (+)NCBIMGSCv36mm8
Celera4143,237,268 - 143,241,799 (+)NCBICelera
Cytogenetic Map4D3NCBI
cM Map474.08NCBI
Hspb7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85159,010,759 - 159,014,245 (+)NCBIGRCr8
mRatBN7.25153,727,782 - 153,731,268 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5153,727,588 - 153,731,266 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5156,414,594 - 156,418,080 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05158,187,880 - 158,191,366 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05158,177,061 - 158,180,547 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05159,968,077 - 159,971,563 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5159,967,839 - 159,971,562 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05163,688,616 - 163,692,102 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45160,311,908 - 160,315,394 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15160,322,230 - 160,322,989 (+)NCBI
Celera5152,089,504 - 152,092,990 (+)NCBICelera
Cytogenetic Map5q36NCBI
Hspb7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555272,219,462 - 2,222,824 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555272,219,462 - 2,222,824 (+)NCBIChiLan1.0ChiLan1.0
HSPB7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21210,902,785 - 210,906,988 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11210,151,188 - 210,155,577 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0115,151,471 - 15,156,234 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1116,144,200 - 16,148,959 (-)NCBIpanpan1.1PanPan1.1panPan2
HSPB7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1281,628,051 - 81,631,939 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl281,619,999 - 81,630,483 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha278,163,485 - 78,167,372 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0282,273,705 - 82,277,606 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl282,273,504 - 82,277,580 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1279,026,872 - 79,030,773 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0280,044,020 - 80,047,921 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0281,111,730 - 81,115,632 (+)NCBIUU_Cfam_GSD_1.0
Hspb7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505837,759,259 - 37,762,650 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364743,583,509 - 3,587,508 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364743,583,999 - 3,587,316 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSPB7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl675,166,992 - 75,175,013 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1675,171,507 - 75,174,918 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HSPB7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120116,280,155 - 116,284,982 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20116,280,704 - 116,285,133 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605419,806,487 - 19,811,415 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hspb7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247642,193,778 - 2,197,707 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247642,194,420 - 2,197,713 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HSPB7
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 copy number loss See cases [RCV000051146] Chr1:15385267..20980349 [GRCh38]
Chr1:15711763..21306842 [GRCh37]
Chr1:15584350..21179429 [NCBI36]
Chr1:1p36.21-36.12		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 copy number gain See cases [RCV000051797] Chr1:13110797..20670207 [GRCh38]
Chr1:13178269..20996700 [GRCh37]
Chr1:13100856..20869287 [NCBI36]
Chr1:1p36.21-36.12		 pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3 copy number gain See cases [RCV000051799] Chr1:13619979..18466172 [GRCh38]
Chr1:13946474..18792666 [GRCh37]
Chr1:13819061..18665253 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 copy number loss See cases [RCV000053766] Chr1:11121625..16324498 [GRCh38]
Chr1:11181682..16650993 [GRCh37]
Chr1:11104269..16523580 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-18242678)x1 copy number loss See cases [RCV000053769] Chr1:15173497..18242678 [GRCh38]
Chr1:15499993..18569172 [GRCh37]
Chr1:15372580..18441759 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-17019576)x1 copy number loss See cases [RCV000053771] Chr1:15173497..17019576 [GRCh38]
Chr1:15499993..17346071 [GRCh37]
Chr1:15372580..17218658 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13		 pathogenic
NM_014424.4(HSPB7):c.-1420G>A single nucleotide variant Malignant melanoma [RCV000064282] Chr1:16019383 [GRCh38]
Chr1:16345878 [GRCh37]
Chr1:16218465 [NCBI36]
Chr1:1p36.13		 not provided
GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1 copy number loss See cases [RCV000135597] Chr1:15052047..16499873 [GRCh38]
Chr1:15378543..16826368 [GRCh37]
Chr1:15251130..16698955 [NCBI36]
Chr1:1p36.21-36.13		 likely pathogenic|uncertain significance
GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1 copy number loss See cases [RCV000137720] Chr1:12724785..16034788 [GRCh38]
Chr1:12784752..16361283 [GRCh37]
Chr1:12707339..16233870 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1 copy number loss See cases [RCV000138070] Chr1:15681812..19662339 [GRCh38]
Chr1:16008307..19988832 [GRCh37]
Chr1:15880894..19861419 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
NM_014424.5(HSPB7):c.442A>G (p.Thr148Ala) single nucleotide variant Oromandibular-limb hypogenesis spectrum [RCV000239981] Chr1:16015651 [GRCh38]
Chr1:16342146 [GRCh37]
Chr1:1p36.13		 likely benign
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13		 uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh37/hg19 1p36.21-36.13(chr1:13178371-19961858)x1 copy number loss See cases [RCV000447987] Chr1:13178371..19961858 [GRCh37]
Chr1:1p36.21-36.13		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.13(chr1:16217579-16496902)x3 copy number gain not provided [RCV000684552] Chr1:16217579..16496902 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13(chr1:16344099-16389405)x1 copy number loss not provided [RCV000684553] Chr1:16344099..16389405 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13(chr1:16344099-16403711)x1 copy number loss not provided [RCV000684554] Chr1:16344099..16403711 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.13(chr1:16336654-16377139)x3 copy number gain not provided [RCV000736411] Chr1:16336654..16377139 [GRCh37]
Chr1:1p36.13		 benign
GRCh37/hg19 1p36.13(chr1:16344730-16360881)x0 copy number loss not provided [RCV000736412] Chr1:16344730..16360881 [GRCh37]
Chr1:1p36.13		 benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1 copy number loss not provided [RCV000847705] Chr1:16096742..16725355 [GRCh37]
Chr1:1p36.21-36.13		 uncertain significance
NM_014424.5(HSPB7):c.387G>A (p.Pro129=) single nucleotide variant not provided [RCV000970039] Chr1:16015706 [GRCh38]
Chr1:16342201 [GRCh37]
Chr1:1p36.13		 benign
NM_014424.5(HSPB7):c.152A>G (p.Asp51Gly) single nucleotide variant not provided [RCV000970040] Chr1:16017812 [GRCh38]
Chr1:16344307 [GRCh37]
Chr1:1p36.13		 benign
NM_014424.5(HSPB7):c.151G>A (p.Asp51Asn) single nucleotide variant not provided [RCV000970041] Chr1:16017813 [GRCh38]
Chr1:16344308 [GRCh37]
Chr1:1p36.13		 benign
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1 copy number loss not provided [RCV001259568] Chr1:16041431..21295864 [GRCh37]
Chr1:1p36.21-36.12		 pathogenic
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NC_000001.11:g.10115497_16283149dup duplication not specified [RCV002286386] Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13		 likely pathogenic
NM_014424.5(HSPB7):c.448C>T (p.Arg150Trp) single nucleotide variant not specified [RCV004306504] Chr1:16015645 [GRCh38]
Chr1:16342140 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.364T>C (p.Phe122Leu) single nucleotide variant not specified [RCV004309968] Chr1:16015729 [GRCh38]
Chr1:16342224 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13		 pathogenic
NM_014424.5(HSPB7):c.493C>T (p.Arg165Trp) single nucleotide variant not specified [RCV004220328] Chr1:16015600 [GRCh38]
Chr1:16342095 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.368C>T (p.Ala123Val) single nucleotide variant not specified [RCV004234668] Chr1:16015725 [GRCh38]
Chr1:16342220 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.464C>T (p.Pro155Leu) single nucleotide variant not specified [RCV004238665] Chr1:16015629 [GRCh38]
Chr1:16342124 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.325G>A (p.Ala109Thr) single nucleotide variant not specified [RCV004131694] Chr1:16017082 [GRCh38]
Chr1:16343577 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.254C>T (p.Ala85Val) single nucleotide variant not specified [RCV004156200] Chr1:16017153 [GRCh38]
Chr1:16343648 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.134T>C (p.Leu45Pro) single nucleotide variant not specified [RCV004149973] Chr1:16017830 [GRCh38]
Chr1:16344325 [GRCh37]
Chr1:1p36.13		 uncertain significance
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_014424.5(HSPB7):c.322C>T (p.Arg108Trp) single nucleotide variant not specified [RCV004325975] Chr1:16017085 [GRCh38]
Chr1:16343580 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1 copy number loss not specified [RCV003986551] Chr1:16194137..20561434 [GRCh37]
Chr1:1p36.21-36.12		 pathogenic
NM_014424.5(HSPB7):c.494G>A (p.Arg165Gln) single nucleotide variant not specified [RCV004404731] Chr1:16015599 [GRCh38]
Chr1:16342094 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.86C>T (p.Ser29Leu) single nucleotide variant not specified [RCV004404732] Chr1:16017878 [GRCh38]
Chr1:16344373 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.458G>A (p.Arg153His) single nucleotide variant not specified [RCV004404730] Chr1:16015635 [GRCh38]
Chr1:16342130 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.352G>A (p.Val118Ile) single nucleotide variant not specified [RCV004404729] Chr1:16015741 [GRCh38]
Chr1:16342236 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.116C>T (p.Pro39Leu) single nucleotide variant not specified [RCV004404728] Chr1:16017848 [GRCh38]
Chr1:16344343 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_014424.5(HSPB7):c.101T>C (p.Leu34Pro) single nucleotide variant not specified [RCV004404727] Chr1:16017863 [GRCh38]
Chr1:16344358 [GRCh37]
Chr1:1p36.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4488
Count of miRNA genes:857
Interacting mature miRNAs:1051
Transcripts:ENST00000311890, ENST00000375718, ENST00000406363, ENST00000411503, ENST00000442459, ENST00000463576, ENST00000487046, ENST00000545268
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
HSPB7_990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,340,398 - 16,341,168UniSTSGRCh37
Build 36116,212,985 - 16,213,755RGDNCBI36
Celera114,820,304 - 14,821,073RGD
HuRef114,859,458 - 14,860,227UniSTS
SHGC-74273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,340,549 - 16,340,681UniSTSGRCh37
Build 36116,213,136 - 16,213,268RGDNCBI36
Celera114,820,455 - 14,820,587RGD
Cytogenetic Map1p36.23-p34.3UniSTS
HuRef114,859,609 - 14,859,741UniSTS
TNG Radiation Hybrid Map123446.0UniSTS
GeneMap99-GB4 RH Map159.62UniSTS
SHGC-74268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,341,318 - 16,341,471UniSTSGRCh37
Build 36116,213,905 - 16,214,058RGDNCBI36
Celera114,821,223 - 14,821,376RGD
Cytogenetic Map1p36.23-p34.3UniSTS
HuRef114,860,377 - 14,860,530UniSTS
TNG Radiation Hybrid Map123446.0UniSTS
GeneMap99-GB4 RH Map158.89UniSTS
SHGC-74270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,340,698 - 16,340,804UniSTSGRCh37
Build 36116,213,285 - 16,213,391RGDNCBI36
Celera114,820,604 - 14,820,710RGD
Cytogenetic Map1p36.23-p34.3UniSTS
HuRef114,859,758 - 14,859,864UniSTS
TNG Radiation Hybrid Map123446.0UniSTS
GeneMap99-GB4 RH Map159.1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 3 792 490 758 1 489 1
Medium 1899 1460 995 66 152 6 2945 1391 1003 138 1096 1171 63 1 1193 2071 2
Low 409 374 563 405 851 302 697 9 2623 197 259 244 105 10 228 5
Below cutoff 35 356 140 139 703 139 170 13 81 54 39 67 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF155908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311890   ⟹   ENSP00000310111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,014,029 - 16,018,043 (-)Ensembl
RefSeq Acc Id: ENST00000375718   ⟹   ENSP00000364870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,014,028 - 16,019,594 (-)Ensembl
RefSeq Acc Id: ENST00000406363   ⟹   ENSP00000385472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,015,499 - 16,018,005 (-)Ensembl
RefSeq Acc Id: ENST00000411503   ⟹   ENSP00000391578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,014,028 - 16,018,041 (-)Ensembl
RefSeq Acc Id: ENST00000442459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,014,028 - 16,018,043 (-)Ensembl
RefSeq Acc Id: ENST00000463576   ⟹   ENSP00000417966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,015,374 - 16,017,825 (-)Ensembl
RefSeq Acc Id: ENST00000487046   ⟹   ENSP00000419477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,015,374 - 16,018,073 (-)Ensembl
RefSeq Acc Id: NM_001349682   ⟹   NP_001336611
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,014,029 - 16,019,594 (-)NCBI
T2T-CHM13v2.0115,455,340 - 15,460,905 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349683   ⟹   NP_001336612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,014,029 - 16,018,043 (-)NCBI
T2T-CHM13v2.0115,455,340 - 15,459,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349685   ⟹   NP_001336614
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,014,029 - 16,018,043 (-)NCBI
T2T-CHM13v2.0115,455,340 - 15,459,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349686   ⟹   NP_001336615
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,014,029 - 16,018,043 (-)NCBI
T2T-CHM13v2.0115,455,340 - 15,459,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349687   ⟹   NP_001336616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,014,029 - 16,018,043 (-)NCBI
T2T-CHM13v2.0115,455,340 - 15,459,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349688   ⟹   NP_001336617
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,014,029 - 16,018,043 (-)NCBI
T2T-CHM13v2.0115,455,340 - 15,459,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349689   ⟹   NP_001336618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,014,029 - 16,018,043 (-)NCBI
T2T-CHM13v2.0115,455,340 - 15,459,354 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014424   ⟹   NP_055239
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,014,029 - 16,018,043 (-)NCBI
GRCh37116,340,523 - 16,346,084 (-)NCBI
Build 36116,213,111 - 16,217,538 (-)NCBI Archive
Celera114,820,429 - 14,825,190 (-)RGD
HuRef114,859,583 - 14,864,344 (-)ENTREZGENE
CHM1_1116,139,026 - 16,143,787 (-)NCBI
T2T-CHM13v2.0115,455,340 - 15,459,354 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_055239   ⟸   NM_014424
- Peptide Label: isoform 2
- UniProtKB: C9K0Y0 (UniProtKB/Swiss-Prot),   B3KQ37 (UniProtKB/Swiss-Prot),   Q9NU17 (UniProtKB/Swiss-Prot),   Q9UBY9 (UniProtKB/Swiss-Prot),   Q7Z3C1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336611   ⟸   NM_001349682
- Peptide Label: isoform 1
- UniProtKB: Q8N241 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336614   ⟸   NM_001349685
- Peptide Label: isoform 4
- UniProtKB: Q7Z3C1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336616   ⟸   NM_001349687
- Peptide Label: isoform 6
- UniProtKB: D3YTC6 (UniProtKB/TrEMBL),   Q7Z3C1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336615   ⟸   NM_001349686
- Peptide Label: isoform 5
- UniProtKB: Q7Z3C1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336617   ⟸   NM_001349688
- Peptide Label: isoform 7
- UniProtKB: Q7Z3C1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336612   ⟸   NM_001349683
- Peptide Label: isoform 3
- UniProtKB: B5MCQ3 (UniProtKB/TrEMBL),   Q68DG0 (UniProtKB/TrEMBL),   Q7Z3C1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336618   ⟸   NM_001349689
- Peptide Label: isoform 8
- UniProtKB: Q7Z3C1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000417966   ⟸   ENST00000463576
RefSeq Acc Id: ENSP00000391578   ⟸   ENST00000411503
RefSeq Acc Id: ENSP00000364870   ⟸   ENST00000375718
RefSeq Acc Id: ENSP00000310111   ⟸   ENST00000311890
RefSeq Acc Id: ENSP00000385472   ⟸   ENST00000406363
RefSeq Acc Id: ENSP00000419477   ⟸   ENST00000487046
Protein Domains
sHSP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UBY9-F1-model_v2 AlphaFold Q9UBY9 1-170 view protein structure

Promoters
RGD ID:6854236
Promoter ID:EPDNEW_H283
Type:initiation region
Name:HSPB7_1
Description:heat shock protein family B member 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H284  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,018,043 - 16,018,103EPDNEW
RGD ID:6854238
Promoter ID:EPDNEW_H284
Type:multiple initiation site
Name:HSPB7_2
Description:heat shock protein family B member 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H283  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,020,537 - 16,020,597EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5249 AgrOrtholog
COSMIC HSPB7 COSMIC
Ensembl Genes ENSG00000173641 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000311890 ENTREZGENE
  ENST00000311890.14 UniProtKB/Swiss-Prot
  ENST00000375718 ENTREZGENE
  ENST00000375718.4 UniProtKB/TrEMBL
  ENST00000406363 ENTREZGENE
  ENST00000406363.2 UniProtKB/TrEMBL
  ENST00000411503 ENTREZGENE
  ENST00000411503.5 UniProtKB/TrEMBL
  ENST00000463576.5 UniProtKB/TrEMBL
  ENST00000487046 ENTREZGENE
  ENST00000487046.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.790 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173641 GTEx
HGNC ID HGNC:5249 ENTREZGENE
Human Proteome Map HSPB7 Human Proteome Map
InterPro A-crystallin/Hsp20_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACD_HspB7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-crystallin/HSP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSP20-like_chaperone UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27129 UniProtKB/Swiss-Prot
NCBI Gene 27129 ENTREZGENE
OMIM 610692 OMIM
PANTHER HEAT SHOCK PROTEIN BETA-7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEAT SHOCK PROTEIN BETA-7-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HSP20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29514 PharmGKB
PRINTS ACRYSTALLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SHSP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49764 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KQ37 ENTREZGENE
  B5MCQ3 ENTREZGENE
  C9J5A3_HUMAN UniProtKB/TrEMBL
  C9K0Y0 ENTREZGENE
  D3YTC6 ENTREZGENE, UniProtKB/TrEMBL
  HSPB7_HUMAN UniProtKB/Swiss-Prot
  Q68DG0 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z3C1 ENTREZGENE, UniProtKB/TrEMBL
  Q8N241 ENTREZGENE, UniProtKB/TrEMBL
  Q9NU17 ENTREZGENE
  Q9UBY9 ENTREZGENE
UniProt Secondary B3KQ37 UniProtKB/Swiss-Prot
  B5MCQ3 UniProtKB/TrEMBL
  C9K0Y0 UniProtKB/Swiss-Prot
  Q9NU17 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 HSPB7  heat shock protein family B (small) member 7    heat shock 27kDa protein family, member 7 (cardiovascular)  Symbol and/or name change 5135510 APPROVED