HSPA6 (heat shock protein family A (Hsp70) member 6) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: HSPA6 (heat shock protein family A (Hsp70) member 6) Homo sapiens
Analyze
Symbol: HSPA6
Name: heat shock protein family A (Hsp70) member 6
RGD ID: 1346401
HGNC Page HGNC:5239
Description: Enables several functions, including ATP hydrolysis activity; heat shock protein binding activity; and unfolded protein binding activity. Involved in cellular response to heat and protein refolding. Located in COP9 signalosome; centriole; and cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: heat shock 70 kDa protein 6; heat shock 70 kDa protein B'; heat shock 70kD protein 6 (HSP70B'); heat shock 70kDa protein 6 (HSP70B'); heat shock protein family A member 6; HSP70B'
RGD Orthologs
Rat
Chinchilla
Bonobo
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
GRCh381161,524,540 - 161,526,894 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,524,540 - 161,526,894 (+)EnsemblGRCh38hg38GRCh38
GRCh371161,494,330 - 161,496,684 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,760,660 - 159,763,311 (+)NCBINCBI36Build 36hg18NCBI36
Build 341158,307,090 - 158,309,740NCBI
Cytogenetic Map1q23.3NCBI
HuRef1132,819,052 - 132,821,703 (+)NCBIHuRef
CHM1_11162,915,872 - 162,918,523 (+)NCBICHM1_1
T2T-CHM13v2.01160,787,168 - 160,789,522 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(E)-cinnamyl alcohol  (EXP)
1,3-benzothiazole-2-thiol  (EXP)
1,4-phenylenediamine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-fluoro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (EXP)
2,6-dichloroindophenol  (EXP)
2-bromo-2-(bromomethyl)pentanedinitrile  (EXP)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-dichloroaniline  (EXP)
3-phenylprop-2-enal  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-nitrobenzyl bromide  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
acrylamide  (EXP)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
ammonium hexachloroplatinate  (EXP)
amphibole asbestos  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antimycin A  (EXP)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
Aurin  (EXP)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP)
boron nitride  (EXP)
bortezomib  (EXP)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfate  (EXP)
camptothecin  (EXP)
cannabidiol  (EXP)
carbaryl  (EXP)
carbon nanotube  (EXP)
celastrol  (EXP)
chloropicrin  (EXP)
cinnamyl alcohol  (EXP)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
crotonaldehyde  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-penicillamine  (EXP)
deguelin  (EXP)
desferrioxamine B  (EXP)
Diallyl sulfide  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dieldrin  (EXP)
diethyl maleate  (EXP)
dihydroxyacetone  (EXP)
diquat  (EXP)
disulfiram  (EXP)
dopamine  (EXP)
dorsomorphin  (EXP)
elesclomol  (EXP)
ethanol  (EXP)
eugenol  (EXP)
formaldehyde  (EXP)
glycerol  (EXP)
glyoxal  (EXP)
glyphosate  (EXP)
hexamethylene diisocyanate  (EXP)
hydrogen peroxide  (EXP)
indirubin-3'-monoxime  (EXP)
iron dichloride  (EXP)
isoeugenol  (EXP)
ivermectin  (EXP)
leflunomide  (EXP)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
menadione  (EXP)
mercury dichloride  (EXP)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
niclosamide  (EXP)
Nutlin-3  (EXP)
o-anisidine  (EXP)
ochratoxin A  (EXP)
organoselenium compound  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP)
pentanal  (EXP)
perfluorooctanoic acid  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
picoxystrobin  (EXP)
progesterone  (EXP)
pyrimidifen  (EXP)
quartz  (EXP)
quercetin  (EXP)
quercitrin  (EXP)
rac-lactic acid  (EXP)
SB 431542  (EXP)
sertraline  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
silver(1+) nitrate  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sulindac sulfide  (EXP)
sunitinib  (EXP)
tanespimycin  (EXP)
tebufenpyrad  (EXP)
tert-butyl hydroperoxide  (EXP)
thimerosal  (EXP)
thiostrepton  (EXP)
thiram  (EXP)
titanium dioxide  (EXP)
trans-isoeugenol  (EXP)
trimellitic anhydride  (EXP)
triphenyl phosphate  (EXP)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc molecular entity  (EXP)
zinc pyrithione  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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:1346391   PMID:2327978   PMID:3184191   PMID:7545947   PMID:7906708   PMID:8125298   PMID:10413683   PMID:10617616   PMID:10964507   PMID:11932435   PMID:12477932   PMID:12832005  
PMID:14702039   PMID:15489334   PMID:16497536   PMID:17110338   PMID:17601350   PMID:17620599   PMID:17643375   PMID:18022941   PMID:18229458   PMID:18247557   PMID:18347947   PMID:18372927  
PMID:18579131   PMID:18685789   PMID:18818748   PMID:18850735   PMID:18977241   PMID:19019335   PMID:19074885   PMID:19199708   PMID:19275587   PMID:19287380   PMID:19380743   PMID:19423540  
PMID:19527514   PMID:19773279   PMID:19815544   PMID:19875381   PMID:20084477   PMID:20140262   PMID:20348092   PMID:20391533   PMID:20406964   PMID:20438785   PMID:20467437   PMID:20890123  
PMID:21044950   PMID:21081503   PMID:21145461   PMID:21231916   PMID:21297633   PMID:21532586   PMID:21565611   PMID:21597468   PMID:21738476   PMID:21763498   PMID:21873635   PMID:21988832  
PMID:22190034   PMID:22516433   PMID:22863883   PMID:22939629   PMID:23128233   PMID:23246001   PMID:23438482   PMID:23508102   PMID:23652523   PMID:23703321   PMID:23921388   PMID:24039173  
PMID:24061851   PMID:24718257   PMID:24742347   PMID:25036637   PMID:25144556   PMID:25319762   PMID:25324306   PMID:25447897   PMID:25670202   PMID:25798051   PMID:25798074   PMID:25921289  
PMID:25957766   PMID:25963833   PMID:26001115   PMID:26170170   PMID:26186194   PMID:26209609   PMID:26460568   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26656590   PMID:26752685  
PMID:26826017   PMID:26972000   PMID:27020764   PMID:27025967   PMID:27206651   PMID:27483141   PMID:27527722   PMID:27591049   PMID:27609421   PMID:27880917   PMID:28049024   PMID:28223424  
PMID:28443643   PMID:28514442   PMID:28515276   PMID:28902428   PMID:28927264   PMID:29090408   PMID:29228324   PMID:29229926   PMID:29298432   PMID:29467282   PMID:29507755   PMID:29564676  
PMID:29568061   PMID:29615496   PMID:29673441   PMID:29735542   PMID:29777862   PMID:29845934   PMID:30021884   PMID:30209976   PMID:30258100   PMID:30277474   PMID:30455355   PMID:30462309  
PMID:30591555   PMID:30699358   PMID:30719818   PMID:30804394   PMID:30804502   PMID:30833792   PMID:30884312   PMID:31059266   PMID:31073040   PMID:31152661   PMID:31180492   PMID:31239290  
PMID:31300519   PMID:31501420   PMID:31527615   PMID:31586073   PMID:31659016   PMID:31871319   PMID:31980649   PMID:32296183   PMID:32344865   PMID:32529326   PMID:32723828   PMID:32738194  
PMID:32807901   PMID:33080218   PMID:33239621   PMID:33306668   PMID:33417871   PMID:33545068   PMID:33845483   PMID:33957083   PMID:33961781   PMID:33991176   PMID:34185411   PMID:34315543  
PMID:34349018   PMID:34383978   PMID:34428256   PMID:34644545   PMID:34650049   PMID:34709266   PMID:34795231   PMID:34901782   PMID:35182466   PMID:35235311   PMID:35256949   PMID:35362267  
PMID:35379950   PMID:35446349   PMID:35454081   PMID:35575683   PMID:35666422   PMID:35676246   PMID:35687106   PMID:35777956   PMID:35831314   PMID:35944360   PMID:36030824   PMID:36042349  
PMID:36055981   PMID:36123327   PMID:36215168   PMID:36273042   PMID:36414381   PMID:36424410   PMID:36517590   PMID:36574265   PMID:36584595   PMID:36927457   PMID:37059091   PMID:37071682  
PMID:37211047   PMID:37223481   PMID:37249651   PMID:37267103   PMID:37317656   PMID:37739270   PMID:37749917   PMID:38280479   PMID:38334954   PMID:38492217   PMID:38697112  


Genomics

Comparative Map Data
HSPA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,524,540 - 161,526,894 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,524,540 - 161,526,894 (+)EnsemblGRCh38hg38GRCh38
GRCh371161,494,330 - 161,496,684 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,760,660 - 159,763,311 (+)NCBINCBI36Build 36hg18NCBI36
Build 341158,307,090 - 158,309,740NCBI
Cytogenetic Map1q23.3NCBI
HuRef1132,819,052 - 132,821,703 (+)NCBIHuRef
CHM1_11162,915,872 - 162,918,523 (+)NCBICHM1_1
T2T-CHM13v2.01160,787,168 - 160,789,522 (+)NCBIT2T-CHM13v2.0
Hspa6l-ps1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81385,805,911 - 85,807,052 (-)NCBIGRCr8
mRatBN7.21383,273,176 - 83,274,317 (-)NCBImRatBN7.2mRatBN7.2
Rnor_6.01389,408,703 - 89,411,500 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01394,048,282 - 94,050,425 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41386,890,753 - 86,892,452 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1382,925,184 - 82,927,981 (-)NCBICelera
Cytogenetic Map13q24NCBI
Hspa6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495546214,723,990 - 14,726,420 (-)NCBIChiLan1.0ChiLan1.0
HSPA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2188,261,128 - 88,266,004 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1187,929,563 - 87,934,439 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01136,911,131 - 136,914,319 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
Hspa6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050587,505,973 - 7,508,940 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493713125,551 - 28,457 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493713125,603 - 28,458 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSPA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl488,970,599 - 88,973,918 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1488,970,592 - 88,973,109 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HSPA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1202,490,826 - 2,495,376 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660381,549,052 - 1,551,883 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hspa6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462482634,585 - 37,217 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462482635,284 - 37,573 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HSPA6
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.3(chr1:161513195-161671153)x3 copy number gain See cases [RCV000051556] Chr1:161513195..161671153 [GRCh38]
Chr1:161482985..161640943 [GRCh37]
Chr1:159749609..159907567 [NCBI36]
Chr1:1q23.3		 uncertain significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1		 pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2		 pathogenic
NM_002155.4(HSPA6):c.228C>T (p.Ile76=) single nucleotide variant Malignant melanoma [RCV000064273] Chr1:161524886 [GRCh38]
Chr1:161494676 [GRCh37]
Chr1:159761300 [NCBI36]
Chr1:1q23.3		 not provided
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
NM_002155.4(HSPA6):c.-1862_*5145del deletion Small for gestational age [RCV000161186] Chr1:161522797..161531735 [GRCh38]
Chr1:161492587..161501525 [GRCh37]
Chr1:1q23.3		 not provided
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
NM_002155.5(HSPA6):c.121C>A (p.Pro41Thr) single nucleotide variant not specified [RCV004332549] Chr1:161524779 [GRCh38]
Chr1:161494569 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1520A>G (p.Asn507Ser) single nucleotide variant not specified [RCV004314871] Chr1:161526178 [GRCh38]
Chr1:161495968 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1365C>A (p.Asn455Lys) single nucleotide variant not specified [RCV004313581] Chr1:161526023 [GRCh38]
Chr1:161495813 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:161469309-162517412)x3 copy number gain not provided [RCV000684667] Chr1:161469309..162517412 [GRCh37]
Chr1:1q23.3		 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 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2		 pathogenic
GRCh37/hg19 1q23.3(chr1:161477028-161643125)x3 copy number gain not provided [RCV000749209] Chr1:161477028..161643125 [GRCh37]
Chr1:1q23.3		 benign
GRCh37/hg19 1q23.3(chr1:161482520-161519610)x3 copy number gain not provided [RCV000749210] Chr1:161482520..161519610 [GRCh37]
Chr1:1q23.3		 benign
GRCh37/hg19 1q23.3(chr1:161483723-161611004)x1 copy number loss not provided [RCV000749211] Chr1:161483723..161611004 [GRCh37]
Chr1:1q23.3		 benign
GRCh37/hg19 1q23.3(chr1:161483843-161643125)x3 copy number gain not provided [RCV000749212] Chr1:161483843..161643125 [GRCh37]
Chr1:1q23.3		 benign
GRCh37/hg19 1q23.3(chr1:161486615-161643984)x0 copy number loss not provided [RCV000749213] Chr1:161486615..161643984 [GRCh37]
Chr1:1q23.3		 benign
GRCh37/hg19 1q23.3(chr1:161486615-161645259)x1 copy number loss not provided [RCV000749214] Chr1:161486615..161645259 [GRCh37]
Chr1:1q23.3		 benign
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1		 pathogenic
GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 copy number gain not provided [RCV000849025] Chr1:160744174..162583871 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2		 pathogenic
NM_002155.5(HSPA6):c.592C>T (p.Leu198Phe) single nucleotide variant not provided [RCV001620468] Chr1:161525250 [GRCh38]
Chr1:161495040 [GRCh37]
Chr1:1q23.3		 benign
NM_002155.5(HSPA6):c.1309C>T (p.Gln437Ter) single nucleotide variant not provided [RCV000963598] Chr1:161525967 [GRCh38]
Chr1:161495757 [GRCh37]
Chr1:1q23.3		 likely benign
GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3 copy number gain not provided [RCV001005146] Chr1:161134675..161652307 [GRCh37]
Chr1:1q23.3		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) copy number loss not specified [RCV002053658] Chr1:160417296..166197042 [GRCh37]
Chr1:1q23.2-24.1		 pathogenic
NC_000001.10:g.(?_158581054)_(162750036_?)dup duplication Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3		 uncertain significance|no classifications from unflagged records
NC_000001.10:g.(?_161279609)_(161751809_?)dup duplication Charcot-Marie-Tooth disease, type I [RCV003111375] Chr1:161279609..161751809 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1759C>G (p.Gln587Glu) single nucleotide variant not specified [RCV004315280] Chr1:161526417 [GRCh38]
Chr1:161496207 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.344C>G (p.Thr115Arg) single nucleotide variant not specified [RCV004162453] Chr1:161525002 [GRCh38]
Chr1:161494792 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.277C>A (p.Pro93Thr) single nucleotide variant not specified [RCV004164631] Chr1:161524935 [GRCh38]
Chr1:161494725 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.928G>C (p.Asp310His) single nucleotide variant not specified [RCV004238326] Chr1:161525586 [GRCh38]
Chr1:161495376 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.110A>G (p.Asn37Ser) single nucleotide variant not specified [RCV004170200] Chr1:161524768 [GRCh38]
Chr1:161494558 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1591G>C (p.Asp531His) single nucleotide variant not specified [RCV004205058] Chr1:161526249 [GRCh38]
Chr1:161496039 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.43A>G (p.Thr15Ala) single nucleotide variant not specified [RCV004195074] Chr1:161524701 [GRCh38]
Chr1:161494491 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.741C>G (p.Phe247Leu) single nucleotide variant not specified [RCV004160984] Chr1:161525399 [GRCh38]
Chr1:161495189 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1254G>T (p.Arg418Ser) single nucleotide variant not specified [RCV004220311] Chr1:161525912 [GRCh38]
Chr1:161495702 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.469C>A (p.Arg157Ser) single nucleotide variant not specified [RCV004194658] Chr1:161525127 [GRCh38]
Chr1:161494917 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1796G>A (p.Arg599Lys) single nucleotide variant not specified [RCV004077441] Chr1:161526454 [GRCh38]
Chr1:161496244 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.112C>A (p.Arg38Ser) single nucleotide variant not specified [RCV004169105] Chr1:161524770 [GRCh38]
Chr1:161494560 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.604C>G (p.Leu202Val) single nucleotide variant not specified [RCV004171598] Chr1:161525262 [GRCh38]
Chr1:161495052 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.877G>A (p.Val293Met) single nucleotide variant not specified [RCV004170659] Chr1:161525535 [GRCh38]
Chr1:161495325 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.713G>C (p.Arg238Pro) single nucleotide variant not specified [RCV004220439] Chr1:161525371 [GRCh38]
Chr1:161495161 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1072G>C (p.Gly358Arg) single nucleotide variant not specified [RCV004189018] Chr1:161525730 [GRCh38]
Chr1:161495520 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1049A>G (p.Lys350Arg) single nucleotide variant not specified [RCV004134673] Chr1:161525707 [GRCh38]
Chr1:161495497 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1904C>A (p.Thr635Asn) single nucleotide variant not specified [RCV004166251] Chr1:161526562 [GRCh38]
Chr1:161496352 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1387C>G (p.Leu463Val) single nucleotide variant not specified [RCV004132527] Chr1:161526045 [GRCh38]
Chr1:161495835 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.328C>A (p.Arg110Ser) single nucleotide variant not specified [RCV004223150] Chr1:161524986 [GRCh38]
Chr1:161494776 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.29G>C (p.Gly10Ala) single nucleotide variant not specified [RCV004086458] Chr1:161524687 [GRCh38]
Chr1:161494477 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.313G>T (p.Val105Leu) single nucleotide variant not specified [RCV004248255] Chr1:161524971 [GRCh38]
Chr1:161494761 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.337G>A (p.Asp113Asn) single nucleotide variant not specified [RCV004265368] Chr1:161524995 [GRCh38]
Chr1:161494785 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.872A>G (p.Glu291Gly) single nucleotide variant not specified [RCV004259542] Chr1:161525530 [GRCh38]
Chr1:161495320 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.352C>G (p.Pro118Ala) single nucleotide variant not specified [RCV004347399] Chr1:161525010 [GRCh38]
Chr1:161494800 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.254T>C (p.Val85Ala) single nucleotide variant not specified [RCV004342914] Chr1:161524912 [GRCh38]
Chr1:161494702 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.830C>A (p.Ser277Tyr) single nucleotide variant not specified [RCV004342310] Chr1:161525488 [GRCh38]
Chr1:161495278 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1016T>G (p.Val339Gly) single nucleotide variant not specified [RCV004348211] Chr1:161525674 [GRCh38]
Chr1:161495464 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.224T>G (p.Leu75Arg) single nucleotide variant not specified [RCV004348626] Chr1:161524882 [GRCh38]
Chr1:161494672 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1696G>C (p.Glu566Gln) single nucleotide variant not specified [RCV004335953] Chr1:161526354 [GRCh38]
Chr1:161496144 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1838A>G (p.Tyr613Cys) single nucleotide variant not specified [RCV004363326] Chr1:161526496 [GRCh38]
Chr1:161496286 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.147C>G (p.Thr49=) single nucleotide variant not provided [RCV003409206] Chr1:161524805 [GRCh38]
Chr1:161494595 [GRCh37]
Chr1:1q23.3		 likely benign
NM_002155.5(HSPA6):c.648T>C (p.Ala216=) single nucleotide variant not provided [RCV003409207] Chr1:161525306 [GRCh38]
Chr1:161495096 [GRCh37]
Chr1:1q23.3		 likely benign
NM_002155.5(HSPA6):c.919C>T (p.Leu307=) single nucleotide variant not provided [RCV003409208] Chr1:161525577 [GRCh38]
Chr1:161495367 [GRCh37]
Chr1:1q23.3		 likely benign
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3		 likely pathogenic
NM_002155.5(HSPA6):c.1421C>A (p.Pro474His) single nucleotide variant not specified [RCV004404702] Chr1:161526079 [GRCh38]
Chr1:161495869 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1570G>A (p.Ala524Thr) single nucleotide variant not specified [RCV004404703] Chr1:161526228 [GRCh38]
Chr1:161496018 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1816C>T (p.Arg606Cys) single nucleotide variant not specified [RCV004404704] Chr1:161526474 [GRCh38]
Chr1:161496264 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1844G>T (p.Gly615Val) single nucleotide variant not specified [RCV004404705] Chr1:161526502 [GRCh38]
Chr1:161496292 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.38T>C (p.Leu13Pro) single nucleotide variant not specified [RCV004404706] Chr1:161524696 [GRCh38]
Chr1:161494486 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1021G>A (p.Gly341Ser) single nucleotide variant not specified [RCV004404697] Chr1:161525679 [GRCh38]
Chr1:161495469 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1283A>G (p.Gln428Arg) single nucleotide variant not specified [RCV004404698] Chr1:161525941 [GRCh38]
Chr1:161495731 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1303G>C (p.Asp435His) single nucleotide variant not specified [RCV004404699] Chr1:161525961 [GRCh38]
Chr1:161495751 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1334A>G (p.Tyr445Cys) single nucleotide variant not specified [RCV004404700] Chr1:161525992 [GRCh38]
Chr1:161495782 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1394G>A (p.Gly465Asp) single nucleotide variant not specified [RCV004404701] Chr1:161526052 [GRCh38]
Chr1:161495842 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.800C>G (p.Thr267Arg) single nucleotide variant not specified [RCV004404710] Chr1:161525458 [GRCh38]
Chr1:161495248 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.769G>A (p.Gly257Arg) single nucleotide variant not specified [RCV004404709] Chr1:161525427 [GRCh38]
Chr1:161495217 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.655T>G (p.Phe219Val) single nucleotide variant not specified [RCV004404708] Chr1:161525313 [GRCh38]
Chr1:161495103 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.527A>G (p.Asn176Ser) single nucleotide variant not specified [RCV004404707] Chr1:161525185 [GRCh38]
Chr1:161494975 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_002155.5(HSPA6):c.1909C>T (p.Pro637Ser) single nucleotide variant not specified [RCV004635243] Chr1:161526567 [GRCh38]
Chr1:161496357 [GRCh37]
Chr1:1q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:176
Count of miRNA genes:166
Interacting mature miRNAs:172
Transcripts:ENST00000309758
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human

Markers in Region
STS-X51758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,577,996 - 161,578,199UniSTSGRCh37
GRCh371161,496,369 - 161,496,559UniSTSGRCh37
Build 361159,762,993 - 159,763,183RGDNCBI36
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1q23UniSTS
HuRef1132,821,385 - 132,821,575UniSTS
GeneMap99-GB4 RH Map1589.71UniSTS
RH70826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,578,033 - 161,578,248UniSTSGRCh37
GRCh371161,496,406 - 161,496,608UniSTSGRCh37
Build 361159,763,030 - 159,763,232RGDNCBI36
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1q23UniSTS
HuRef1132,821,422 - 132,821,624UniSTS
GeneMap99-GB4 RH Map1576.12UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2417 2788 2237 4854 1719 2333 4 620 1859 462 2185 7188 6369 51 3696 847 1727 1602 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC243509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ008960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ217460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD366171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ521571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000309758   ⟹   ENSP00000310219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,524,540 - 161,526,894 (+)Ensembl
RefSeq Acc Id: NM_002155   ⟹   NP_002146
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,524,540 - 161,526,894 (+)NCBI
GRCh371161,494,036 - 161,496,687 (+)ENTREZGENE
Build 361159,760,660 - 159,763,311 (+)NCBI Archive
HuRef1132,819,052 - 132,821,703 (+)ENTREZGENE
CHM1_11162,916,166 - 162,918,523 (+)NCBI
T2T-CHM13v2.01160,787,168 - 160,789,522 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002146   ⟸   NM_002155
- UniProtKB: Q8IYK7 (UniProtKB/Swiss-Prot),   Q1HBA8 (UniProtKB/Swiss-Prot),   Q9BT95 (UniProtKB/Swiss-Prot),   P17066 (UniProtKB/Swiss-Prot),   B3KSM6 (UniProtKB/TrEMBL),   A0A384NKX5 (UniProtKB/TrEMBL),   B2R6X5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000310219   ⟸   ENST00000309758

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P17066-F1-model_v2 AlphaFold P17066 1-643 view protein structure

Promoters
RGD ID:6785740
Promoter ID:HG_KWN:5863
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562
Transcripts:OTTHUMT00000083308,   UC001GAP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361159,760,216 - 159,760,716 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5239 AgrOrtholog
COSMIC HSPA6 COSMIC
Ensembl Genes ENSG00000173110 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000309758 ENTREZGENE
  ENST00000309758.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1270.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.30.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.420.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173110 GTEx
HGNC ID HGNC:5239 ENTREZGENE
Human Proteome Map HSPA6 Human Proteome Map
InterPro ATPase_NBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Heat_shock_70_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSP70_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSP70_peptide-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hsp_70_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3310 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3310 ENTREZGENE
OMIM 140555 OMIM
PANTHER HEAT SHOCK 70 KDA PROTEIN 6-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19375 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HSP70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29505 PharmGKB
PRINTS HEATSHOCK70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HSP70_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSP70_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSP70_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF100920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF100934 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53067 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NKX5 ENTREZGENE, UniProtKB/TrEMBL
  B2R6X5 ENTREZGENE, UniProtKB/TrEMBL
  B3KSM6 ENTREZGENE, UniProtKB/TrEMBL
  HSP76_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q1HBA8 ENTREZGENE
  Q8IYK7 ENTREZGENE
  Q9BT95 ENTREZGENE
UniProt Secondary Q1HBA8 UniProtKB/Swiss-Prot
  Q8IYK7 UniProtKB/Swiss-Prot
  Q9BT95 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 HSPA6  heat shock protein family A (Hsp70) member 6    heat shock 70kDa protein 6 (HSP70B')  Symbol and/or name change 5135510 APPROVED