HSPA2 (heat shock protein family A (Hsp70) member 2) - Rat Genome Database

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Gene: HSPA2 (heat shock protein family A (Hsp70) member 2) Homo sapiens
Analyze
Symbol: HSPA2
Name: heat shock protein family A (Hsp70) member 2
RGD ID: 735843
HGNC Page HGNC:5235
Description: Enables disordered domain specific binding activity; enzyme binding activity; and unfolded protein binding activity. Involved in negative regulation of inclusion body assembly and protein refolding. Located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: heat shock 70kD protein 2; heat shock 70kDa protein 2; heat shock-related 70 kDa protein 2; HSP70-2; HSP70-3; testis-specific heat shock protein-related gene hst70
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381464,535,905 - 64,543,237 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1464,535,905 - 64,546,173 (+)EnsemblGRCh38hg38GRCh38
GRCh371465,002,623 - 65,009,955 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361464,076,939 - 64,079,708 (+)NCBINCBI36Build 36hg18NCBI36
Build 341464,072,375 - 64,079,705NCBI
Celera1445,064,915 - 45,067,684 (+)NCBICelera
Cytogenetic Map14q23.3NCBI
HuRef1445,179,854 - 45,182,623 (+)NCBIHuRef
CHM1_11464,946,881 - 64,949,650 (+)NCBICHM1_1
T2T-CHM13v2.01458,743,704 - 58,751,035 (+)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
(-)-alpha-phellandrene  (EXP)
(R)-carnitine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dichloroindophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (EXP,ISO)
4-phenylbutyric acid  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
alpha-phellandrene  (EXP)
ammonium chloride  (ISO)
amphibole asbestos  (EXP)
amphotericin B  (EXP)
antimycin A  (EXP)
apigenin  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbofuran  (ISO)
carbon nanotube  (ISO)
carbonyl cyanide p-trifluoromethoxyphenylhydrazone  (EXP)
chloroprene  (ISO)
chlorpromazine  (ISO)
choline  (ISO)
chromium(6+)  (EXP,ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (EXP)
cyclophosphamide  (EXP,ISO)
cyclosporin A  (EXP,ISO)
D-penicillamine  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dichloroacetic acid  (ISO)
dihydroxyacetone  (EXP)
dinophysistoxin 1  (EXP)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
etoposide  (EXP)
fenvalerate  (ISO)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
genistein  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
indirubin-3'-monoxime  (EXP)
indometacin  (EXP)
iron dichloride  (EXP)
isoflavones  (ISO)
isoprenaline  (EXP,ISO)
ketamine  (ISO)
L-methionine  (ISO)
lead nitrate  (ISO)
lipopolysaccharide  (EXP)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
mitoxantrone  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
nickel atom  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
ochratoxin A  (EXP)
okadaic acid  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP)
paraquat  (EXP)
parathion  (EXP)
phenethyl caffeate  (ISO)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propanal  (EXP)
quartz  (EXP)
quercetin  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
scopolamine  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
thiostrepton  (EXP)
topotecan  (EXP,ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenylstannane  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
tungsten  (ISO)
urethane  (EXP)
usnic acid  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1474216   PMID:3037489   PMID:7829106   PMID:7849706   PMID:7906708   PMID:8601336   PMID:8622925   PMID:9247342   PMID:10617616   PMID:10964507   PMID:11040178   PMID:11196683  
PMID:11334675   PMID:11790298   PMID:11932435   PMID:12477932   PMID:12493773   PMID:12730033   PMID:12771604   PMID:12782964   PMID:12832005   PMID:14702039   PMID:15146197   PMID:15489334  
PMID:15914229   PMID:16051665   PMID:16189514   PMID:16344560   PMID:16497536   PMID:16517558   PMID:16713569   PMID:16875346   PMID:17007855   PMID:17009596   PMID:17110338   PMID:17369882  
PMID:17532782   PMID:17601350   PMID:17643375   PMID:17922431   PMID:17940904   PMID:18022941   PMID:18029348   PMID:18452162   PMID:18813331   PMID:18977241   PMID:19056867   PMID:19167759  
PMID:19275587   PMID:19607827   PMID:19661373   PMID:19815555   PMID:19875381   PMID:19946888   PMID:20473970   PMID:20975101   PMID:21231916   PMID:21373891   PMID:21382349   PMID:21532586  
PMID:21630459   PMID:21654808   PMID:21738476   PMID:21763498   PMID:21832049   PMID:21873635   PMID:22079093   PMID:22353510   PMID:22397456   PMID:22516433   PMID:22586326   PMID:22670834  
PMID:22939629   PMID:22963397   PMID:23209833   PMID:23246001   PMID:23247813   PMID:23349634   PMID:23425104   PMID:23438482   PMID:23443559   PMID:23703321   PMID:23777267   PMID:23824909  
PMID:23874603   PMID:23921388   PMID:23956138   PMID:24051039   PMID:24169447   PMID:24244333   PMID:24485944   PMID:24639526   PMID:24922646   PMID:24981860   PMID:25027693   PMID:25036637  
PMID:25108126   PMID:25117073   PMID:25144556   PMID:25308252   PMID:25416956   PMID:25798074   PMID:25852190   PMID:25865850   PMID:25890028   PMID:25940091   PMID:25944111   PMID:25963833  
PMID:26153132   PMID:26164067   PMID:26186194   PMID:26217791   PMID:26344197   PMID:26389662   PMID:26460568   PMID:26485645   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26676989  
PMID:26933062   PMID:27114451   PMID:27209630   PMID:27462432   PMID:27483141   PMID:27609295   PMID:27609421   PMID:27880917   PMID:28302793   PMID:28416384   PMID:28514442   PMID:28533407  
PMID:28712289   PMID:28718761   PMID:28786487   PMID:29117863   PMID:29229926   PMID:29507755   PMID:29531219   PMID:29563501   PMID:29564676   PMID:29568061   PMID:29844126   PMID:29845934  
PMID:29911972   PMID:30209976   PMID:30463455   PMID:30561431   PMID:30575818   PMID:30591555   PMID:30726658   PMID:30824926   PMID:30833792   PMID:31073040   PMID:31091453   PMID:31239290  
PMID:31300519   PMID:31324722   PMID:31329371   PMID:31406303   PMID:31462707   PMID:31501420   PMID:31515488   PMID:31536960   PMID:31586073   PMID:31591429   PMID:31594818   PMID:31792442  
PMID:32296183   PMID:32552912   PMID:32814053   PMID:32850835   PMID:33239621   PMID:33246276   PMID:33567341   PMID:33845483   PMID:33957083   PMID:33961781   PMID:33972400   PMID:34079125  
PMID:34428256   PMID:34480088   PMID:34591612   PMID:34845642   PMID:34959194   PMID:35007762   PMID:35013218   PMID:35102251   PMID:35271311   PMID:35446349   PMID:35649069   PMID:35676246  
PMID:35687106   PMID:35696571   PMID:35831314   PMID:35914814   PMID:36114006   PMID:36168628   PMID:36215168   PMID:36246562   PMID:36282215   PMID:36373674   PMID:36574265   PMID:36597993  
PMID:36636478   PMID:36896912  


Genomics

Comparative Map Data
HSPA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381464,535,905 - 64,543,237 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1464,535,905 - 64,546,173 (+)EnsemblGRCh38hg38GRCh38
GRCh371465,002,623 - 65,009,955 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361464,076,939 - 64,079,708 (+)NCBINCBI36Build 36hg18NCBI36
Build 341464,072,375 - 64,079,705NCBI
Celera1445,064,915 - 45,067,684 (+)NCBICelera
Cytogenetic Map14q23.3NCBI
HuRef1445,179,854 - 45,182,623 (+)NCBIHuRef
CHM1_11464,946,881 - 64,949,650 (+)NCBICHM1_1
T2T-CHM13v2.01458,743,704 - 58,751,035 (+)NCBIT2T-CHM13v2.0
Hspa2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391276,450,688 - 76,453,712 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1276,450,950 - 76,453,712 (+)EnsemblGRCm39 Ensembl
GRCm381276,403,812 - 76,406,938 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1276,404,176 - 76,406,938 (+)EnsemblGRCm38mm10GRCm38
MGSCv371277,505,163 - 77,507,925 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361277,323,016 - 77,325,778 (+)NCBIMGSCv36mm8
Celera1277,495,202 - 77,497,964 (+)NCBICelera
Cytogenetic Map12C3NCBI
cM Map1233.73NCBI
Hspa2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86100,864,172 - 100,866,946 (+)NCBIGRCr8
mRatBN7.2695,128,504 - 95,131,281 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl695,128,350 - 95,131,287 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx695,522,154 - 95,524,659 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0695,820,668 - 95,823,173 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0695,249,481 - 95,251,986 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0699,433,575 - 99,436,288 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl699,433,550 - 99,436,289 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06108,843,592 - 108,846,304 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4699,000,541 - 99,003,041 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1699,003,760 - 99,006,497 (+)NCBI
Celera693,553,144 - 93,555,644 (+)NCBICelera
Cytogenetic Map6q24NCBI
Hspa2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554665,344,366 - 5,347,707 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554665,344,366 - 5,347,707 (-)NCBIChiLan1.0ChiLan1.0
HSPA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21565,654,654 - 65,657,531 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11464,871,169 - 64,874,046 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01445,124,326 - 45,127,105 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11463,373,462 - 63,376,240 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1463,373,840 - 63,375,762 (+)Ensemblpanpan1.1panPan2
HSPA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1838,967,104 - 38,969,806 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl838,967,400 - 38,969,313 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha838,658,560 - 38,661,200 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0839,188,332 - 39,191,053 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl839,188,237 - 39,191,347 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1838,810,203 - 38,812,923 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0838,881,460 - 38,884,183 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0839,241,859 - 39,244,579 (+)NCBIUU_Cfam_GSD_1.0
Hspa2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864065,945,617 - 65,948,642 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049364958,243,369 - 8,246,082 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSPA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1788,607,140 - 88,609,947 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2794,987,337 - 94,990,126 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HSPA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12441,747,485 - 41,750,266 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2441,747,864 - 41,749,783 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605329,924,231 - 29,927,019 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hspa2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473436,476,372 - 36,478,548 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HSPA2
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1 copy number loss See cases [RCV000050892] Chr14:59917051..66750803 [GRCh38]
Chr14:60383769..67217521 [GRCh37]
Chr14:59453522..66287274 [NCBI36]
Chr14:14q23.1-23.3
pathogenic
GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 copy number loss See cases [RCV000051521] Chr14:57041036..67208231 [GRCh38]
Chr14:57507754..67674948 [GRCh37]
Chr14:56577507..66744701 [NCBI36]
Chr14:14q22.3-23.3
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1 copy number loss See cases [RCV000138250] Chr14:62252700..65753416 [GRCh38]
Chr14:62719418..66220134 [GRCh37]
Chr14:61789171..65289887 [NCBI36]
Chr14:14q23.2-23.3
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_021979.4(HSPA2):c.911G>T (p.Arg304Leu) single nucleotide variant Inborn genetic diseases [RCV003261190] Chr14:64541760 [GRCh38]
Chr14:65008478 [GRCh37]
Chr14:14q23.3
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_021979.4(HSPA2):c.1149C>T (p.Leu383=) single nucleotide variant not provided [RCV000972882] Chr14:64541998 [GRCh38]
Chr14:65008716 [GRCh37]
Chr14:14q23.3
benign
NM_021979.4(HSPA2):c.1659G>A (p.Lys553=) single nucleotide variant not provided [RCV000960601] Chr14:64542508 [GRCh38]
Chr14:65009226 [GRCh37]
Chr14:14q23.3
benign
NM_021979.4(HSPA2):c.304C>T (p.Pro102Ser) single nucleotide variant Inborn genetic diseases [RCV003252009] Chr14:64541153 [GRCh38]
Chr14:65007871 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.1860C>T (p.Gly620=) single nucleotide variant not provided [RCV000879666] Chr14:64542709 [GRCh38]
Chr14:65009427 [GRCh37]
Chr14:14q23.3
benign
GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3 copy number gain not provided [RCV001259780] Chr14:61409856..65742610 [GRCh37]
Chr14:14q23.1-23.3
likely pathogenic
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3
likely pathogenic
GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3 copy number gain See cases [RCV002285053] Chr14:64016496..65834490 [GRCh37]
Chr14:14q23.2-23.3
uncertain significance
NC_000014.8:g.(?_64746679)_(66975329_?)del deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002007295] Chr14:64746679..66975329 [GRCh37]
Chr14:14q23.2-23.3
pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
NM_021979.4(HSPA2):c.1568A>G (p.Gln523Arg) single nucleotide variant Inborn genetic diseases [RCV002945335] Chr14:64542417 [GRCh38]
Chr14:65009135 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.1771G>A (p.Glu591Lys) single nucleotide variant Inborn genetic diseases [RCV002751811] Chr14:64542620 [GRCh38]
Chr14:65009338 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.320A>G (p.Glu107Gly) single nucleotide variant Inborn genetic diseases [RCV002778715] Chr14:64541169 [GRCh38]
Chr14:65007887 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.915C>A (p.Phe305Leu) single nucleotide variant Inborn genetic diseases [RCV002859746] Chr14:64541764 [GRCh38]
Chr14:65008482 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.1381A>G (p.Lys461Glu) single nucleotide variant Inborn genetic diseases [RCV002868886] Chr14:64542230 [GRCh38]
Chr14:65008948 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.425G>A (p.Ser142Asn) single nucleotide variant Inborn genetic diseases [RCV002742459] Chr14:64541274 [GRCh38]
Chr14:65007992 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.1179C>G (p.Asp393Glu) single nucleotide variant Inborn genetic diseases [RCV002940100] Chr14:64542028 [GRCh38]
Chr14:65008746 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.1766T>C (p.Met589Thr) single nucleotide variant Inborn genetic diseases [RCV003181050] Chr14:64542615 [GRCh38]
Chr14:65009333 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.1408G>T (p.Ala470Ser) single nucleotide variant Inborn genetic diseases [RCV003211148] Chr14:64542257 [GRCh38]
Chr14:65008975 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.946A>T (p.Thr316Ser) single nucleotide variant Inborn genetic diseases [RCV003195694] Chr14:64541795 [GRCh38]
Chr14:65008513 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.130G>A (p.Ala44Thr) single nucleotide variant Inborn genetic diseases [RCV003205616] Chr14:64540979 [GRCh38]
Chr14:65007697 [GRCh37]
Chr14:14q23.3
uncertain significance
NM_021979.4(HSPA2):c.341C>A (p.Thr114Asn) single nucleotide variant Inborn genetic diseases [RCV003184181] Chr14:64541190 [GRCh38]
Chr14:65007908 [GRCh37]
Chr14:14q23.3
uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33
pathogenic
GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3 copy number gain not provided [RCV003485034] Chr14:57588965..68334517 [GRCh37]
Chr14:14q22.3-24.1
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:507
Count of miRNA genes:326
Interacting mature miRNAs:340
Transcripts:ENST00000247207, ENST00000394709, ENST00000554883
Prediction methods:Miranda, Rnahybrid, Targetscan
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
STS-T24102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371465,009,695 - 65,009,925UniSTSGRCh37
Build 361464,079,448 - 64,079,678RGDNCBI36
Celera1445,067,424 - 45,067,654RGD
Cytogenetic Map14q24.1UniSTS
HuRef1445,182,363 - 45,182,593UniSTS
GeneMap99-GB4 RH Map14153.04UniSTS
NCBI RH Map14647.8UniSTS
HSPA2_986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371465,009,200 - 65,010,012UniSTSGRCh37
Build 361464,078,953 - 64,079,765RGDNCBI36
Celera1445,066,929 - 45,067,741RGD
HuRef1445,181,868 - 45,182,680UniSTS
RH69861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371465,007,492 - 65,007,619UniSTSGRCh37
Build 361464,077,245 - 64,077,372RGDNCBI36
Celera1445,065,221 - 45,065,348RGD
Cytogenetic Map14q24.1UniSTS
HuRef1445,180,160 - 45,180,287UniSTS
GeneMap99-GB4 RH Map14153.14UniSTS
NCBI RH Map14647.8UniSTS
RH69032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371465,009,492 - 65,009,727UniSTSGRCh37
Build 361464,079,245 - 64,079,480RGDNCBI36
Celera1445,067,221 - 45,067,456RGD
Cytogenetic Map14q24.1UniSTS
HuRef1445,182,160 - 45,182,395UniSTS
GeneMap99-GB4 RH Map14153.24UniSTS
NCBI RH Map14647.8UniSTS


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 adipose tissue appendage entire extraembryonic component
High 1 1 2
Medium 1861 1567 292 80 295 46 3653 1625 3037 228 899 585 43 274 2618 2
Low 554 734 1394 512 874 388 692 519 655 186 537 1011 128 930 170 1
Below cutoff 15 683 37 30 771 30 10 49 21 3 12 12 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001387931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH006615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG772858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI461827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD300159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN356507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB042367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ489378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000247207   ⟹   ENSP00000247207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1464,540,741 - 64,543,237 (+)Ensembl
RefSeq Acc Id: ENST00000394709   ⟹   ENSP00000378199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1464,535,905 - 64,546,173 (+)Ensembl
RefSeq Acc Id: ENST00000554883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1464,540,741 - 64,541,575 (+)Ensembl
RefSeq Acc Id: NM_001387931   ⟹   NP_001374860
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381464,535,905 - 64,543,237 (+)NCBI
T2T-CHM13v2.01458,743,704 - 58,751,035 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021979   ⟹   NP_068814
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381464,540,741 - 64,543,237 (+)NCBI
GRCh371465,007,186 - 65,009,955 (+)ENTREZGENE
Build 361464,076,939 - 64,079,708 (+)NCBI Archive
HuRef1445,179,854 - 45,182,623 (+)ENTREZGENE
CHM1_11464,946,881 - 64,949,650 (+)NCBI
T2T-CHM13v2.01458,748,539 - 58,751,035 (+)NCBI
Sequence:
RefSeq Acc Id: NP_068814   ⟸   NM_021979
- UniProtKB: Q53XM3 (UniProtKB/Swiss-Prot),   Q15508 (UniProtKB/Swiss-Prot),   Q9UE78 (UniProtKB/Swiss-Prot),   P54652 (UniProtKB/Swiss-Prot),   A0A384MDT7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000247207   ⟸   ENST00000247207
RefSeq Acc Id: ENSP00000378199   ⟸   ENST00000394709
RefSeq Acc Id: NP_001374860   ⟸   NM_001387931
- UniProtKB: Q53XM3 (UniProtKB/Swiss-Prot),   Q15508 (UniProtKB/Swiss-Prot),   P54652 (UniProtKB/Swiss-Prot),   Q9UE78 (UniProtKB/Swiss-Prot),   A0A384MDT7 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P54652-F1-model_v2 AlphaFold P54652 1-639 view protein structure

Promoters
RGD ID:6853298
Promoter ID:EP74471
Type:single initiation site
Name:HS_HSPA2
Description:Heat shock 70kDa protein 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361464,071,881 - 64,071,941EPD
RGD ID:7227871
Promoter ID:EPDNEW_H19682
Type:preliminary
Name:HSPA2_3
Description:heat shock protein family A member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19683  EPDNEW_H19684  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381464,535,410 - 64,535,470EPDNEW
RGD ID:7227875
Promoter ID:EPDNEW_H19683
Type:initiation region
Name:HSPA2_2
Description:heat shock protein family A member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19682  EPDNEW_H19684  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381464,535,899 - 64,535,959EPDNEW
RGD ID:7227877
Promoter ID:EPDNEW_H19684
Type:multiple initiation site
Name:HSPA2_1
Description:heat shock protein family A member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19682  EPDNEW_H19683  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381464,540,741 - 64,540,801EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5235 AgrOrtholog
COSMIC HSPA2 COSMIC
Ensembl Genes ENSG00000126803 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000247207 ENTREZGENE
  ENST00000247207.7 UniProtKB/Swiss-Prot
  ENST00000394709 ENTREZGENE
  ENST00000394709.2 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 ENSG00000126803 GTEx
HGNC ID HGNC:5235 ENTREZGENE
Human Proteome Map HSPA2 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:3306 UniProtKB/Swiss-Prot
NCBI Gene 3306 ENTREZGENE
OMIM 140560 OMIM
PANTHER HEAT SHOCK-RELATED 70 KDA PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19375 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HSP70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29501 PharmGKB
PRINTS HEATSHOCK70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HSP70_1 UniProtKB/Swiss-Prot
  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 A0A384MDT7 ENTREZGENE, UniProtKB/TrEMBL
  HSP72_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q15508 ENTREZGENE
  Q53XM3 ENTREZGENE
  Q9UE78 ENTREZGENE
UniProt Secondary Q15508 UniProtKB/Swiss-Prot
  Q53XM3 UniProtKB/Swiss-Prot
  Q9UE78 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 HSPA2  heat shock protein family A (Hsp70) member 2    heat shock 70kDa protein 2  Symbol and/or name change 5135510 APPROVED