HSPA4L (heat shock protein family A (Hsp70) member 4 like) - Rat Genome Database

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Gene: HSPA4L (heat shock protein family A (Hsp70) member 4 like) Homo sapiens
Analyze
Symbol: HSPA4L
Name: heat shock protein family A (Hsp70) member 4 like
RGD ID: 1350877
HGNC Page HGNC:17041
Description: Predicted to enable ATP binding activity and adenyl-nucleotide exchange factor activity. Predicted to be involved in protein folding and response to unfolded protein. Located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APG-1; APG1; heat shock 70 kDa protein 4-like protein; heat shock 70 kDa protein 4L; heat shock 70-related protein APG-1; heat shock 70kDa protein 4-like; heat shock protein (hsp110 family); heat shock protein family H member 3; HSPH3; osmotic stress protein 94; Osp94; testis tissue sperm-binding protein Li 64n
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
GRCh384127,781,796 - 127,840,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4127,781,821 - 127,840,733 (+)EnsemblGRCh38hg38GRCh38
GRCh374128,702,951 - 128,761,888 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364128,922,903 - 128,973,976 (+)NCBINCBI36Build 36hg18NCBI36
Build 344129,061,057 - 129,112,127NCBI
Celera4126,082,422 - 126,133,472 (+)NCBICelera
Cytogenetic Map4q28.1NCBI
HuRef4124,431,126 - 124,482,187 (+)NCBIHuRef
CHM1_14128,679,911 - 128,730,981 (+)NCBICHM1_1
T2T-CHM13v2.04131,084,803 - 131,143,731 (+)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)
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (EXP)
6-propyl-2-thiouracil  (ISO)
aconitine  (ISO)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (ISO)
Brodifacoum  (ISO)
bromobenzene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibenzo[a,l]pyrene  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
fenofibrate  (ISO)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
hydrogen cyanide  (ISO)
hydrogen sulfide  (ISO)
irinotecan  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
motexafin gadolinium  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
Nonidet P-40  (EXP)
Nutlin-3  (EXP)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP,ISO)
potassium cyanide  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
quercetin  (EXP,ISO)
resorcinol  (EXP)
resveratrol  (ISO)
retinyl acetate  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc acetate  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA,ISS)
cytosol  (IBA,IDA)
nucleus  (IBA,IEA,ISS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
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:8889548   PMID:10524232   PMID:11389747   PMID:12477932   PMID:12952923   PMID:14702039   PMID:15489334   PMID:15815621   PMID:16344560   PMID:17024176   PMID:17353931   PMID:17588478  
PMID:19169850   PMID:20800603   PMID:20811636   PMID:21231916   PMID:21873635   PMID:21946539   PMID:22863883   PMID:22939629   PMID:22990118   PMID:23349634   PMID:23509252   PMID:24091676  
PMID:24366813   PMID:24981860   PMID:25036637   PMID:25324306   PMID:25665578   PMID:25796446   PMID:25864199   PMID:25921289   PMID:26344197   PMID:26486082   PMID:26496610   PMID:26618866  
PMID:26638075   PMID:26831064   PMID:26972000   PMID:27034005   PMID:27248496   PMID:27432908   PMID:27483141   PMID:27684187   PMID:28089446   PMID:28366632   PMID:28443643   PMID:28515276  
PMID:28581483   PMID:28675297   PMID:29111377   PMID:29117863   PMID:29229926   PMID:29378950   PMID:29507755   PMID:29564676   PMID:29568061   PMID:29791485   PMID:29844126   PMID:29845934  
PMID:29911972   PMID:29991511   PMID:30209976   PMID:30349055   PMID:30455355   PMID:30463901   PMID:30637842   PMID:30833792   PMID:30948266   PMID:31073040   PMID:31239290   PMID:31353912  
PMID:31586073   PMID:31685992   PMID:31899217   PMID:31950832   PMID:31980649   PMID:32203420   PMID:32456285   PMID:32707033   PMID:32807901   PMID:32838362   PMID:32877691   PMID:33239621  
PMID:33306668   PMID:33567341   PMID:33711283   PMID:33957083   PMID:33961781   PMID:34244482   PMID:34244565   PMID:34349018   PMID:34591612   PMID:34642328   PMID:34709727   PMID:34728620  
PMID:35013218   PMID:35016035   PMID:35140242   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35530310   PMID:35543156   PMID:35563538  
PMID:35575683   PMID:35676246   PMID:35687106   PMID:35696571   PMID:35831314   PMID:35944360   PMID:35987950   PMID:36042349   PMID:36114006   PMID:36215168   PMID:36282215   PMID:36339263  
PMID:36538041   PMID:36610398   PMID:36634849   PMID:36652389   PMID:36736316   PMID:36774506   PMID:37071682   PMID:37167062   PMID:37211047   PMID:37223481   PMID:37267103   PMID:37314216  
PMID:37317656   PMID:37827155   PMID:37931956   PMID:38113892   PMID:38172120   PMID:38334954   PMID:38878854   PMID:39231216  


Genomics

Comparative Map Data
HSPA4L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384127,781,796 - 127,840,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4127,781,821 - 127,840,733 (+)EnsemblGRCh38hg38GRCh38
GRCh374128,702,951 - 128,761,888 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364128,922,903 - 128,973,976 (+)NCBINCBI36Build 36hg18NCBI36
Build 344129,061,057 - 129,112,127NCBI
Celera4126,082,422 - 126,133,472 (+)NCBICelera
Cytogenetic Map4q28.1NCBI
HuRef4124,431,126 - 124,482,187 (+)NCBIHuRef
CHM1_14128,679,911 - 128,730,981 (+)NCBICHM1_1
T2T-CHM13v2.04131,084,803 - 131,143,731 (+)NCBIT2T-CHM13v2.0
Hspa4l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39340,698,664 - 40,750,538 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl340,699,814 - 40,750,538 (+)EnsemblGRCm39 Ensembl
GRCm38340,744,500 - 40,796,103 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl340,745,382 - 40,796,103 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl340,744,495 - 40,796,103 (+)EnsemblGRCm38mm10GRCm38
MGSCv37340,549,535 - 40,594,287 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36340,842,162 - 40,886,914 (+)NCBIMGSCv36mm8
Celera340,475,179 - 40,519,922 (+)NCBICelera
Cytogenetic Map3BNCBI
cM Map319.51NCBI
Hspa4l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82125,668,346 - 125,726,404 (+)NCBIGRCr8
mRatBN7.22123,740,384 - 123,793,088 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2123,740,384 - 123,793,084 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2130,310,874 - 130,363,567 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02128,423,324 - 128,476,003 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02123,052,445 - 123,105,139 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02127,625,737 - 127,682,864 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2127,625,683 - 127,677,503 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02147,228,755 - 147,285,924 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42127,697,504 - 127,751,085 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12127,647,466 - 127,700,988 (+)NCBI
Celera2118,648,388 - 118,701,051 (+)NCBICelera
Cytogenetic Map2q26NCBI
Hspa4l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542813,589,532 - 13,644,079 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542813,589,532 - 13,644,079 (-)NCBIChiLan1.0ChiLan1.0
HSPA4L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23125,539,361 - 125,612,024 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14125,805,487 - 125,870,165 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04119,946,233 - 120,004,602 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14131,251,993 - 131,303,499 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4131,251,354 - 131,303,499 (+)Ensemblpanpan1.1panPan2
HSPA4L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11913,105,017 - 13,157,047 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1913,106,044 - 13,156,886 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1913,294,730 - 13,344,806 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01913,193,960 - 13,247,047 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1913,195,035 - 13,245,775 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11913,167,146 - 13,220,197 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01913,453,641 - 13,506,105 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01913,914,616 - 13,967,679 (-)NCBIUU_Cfam_GSD_1.0
Hspa4l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530161,577,372 - 61,620,976 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366422,868,950 - 2,914,995 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366422,869,275 - 2,907,818 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSPA4L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl897,032,189 - 97,089,949 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1897,032,179 - 97,088,240 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28103,897,623 - 103,953,357 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HSPA4L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1774,901,060 - 74,956,458 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl774,901,029 - 74,955,328 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603754,035,156 - 54,090,683 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hspa4l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247778,711,869 - 8,780,297 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247778,711,780 - 8,780,091 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HSPA4L
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21		 pathogenic
GRCh38/hg38 4q28.1-28.2(chr4:127788856-128114180)x1 copy number loss See cases [RCV000054072] Chr4:127788856..128114180 [GRCh38]
Chr4:128710011..129035335 [GRCh37]
Chr4:128929461..129254785 [NCBI36]
Chr4:4q28.1-28.2		 uncertain significance
GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1 copy number loss See cases [RCV000135316] Chr4:125118620..132773079 [GRCh38]
Chr4:126039775..133694234 [GRCh37]
Chr4:126259225..133913684 [NCBI36]
Chr4:4q28.1-28.3		 pathogenic
GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1 copy number loss See cases [RCV000137400] Chr4:127371061..127994046 [GRCh38]
Chr4:128292216..128915201 [GRCh37]
Chr4:128511666..129134651 [NCBI36]
Chr4:4q28.1-28.2		 uncertain significance
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q28.1(chr4:127699317-127837482)x1 copy number loss See cases [RCV000141284] Chr4:127699317..127837482 [GRCh38]
Chr4:128620472..128758637 [GRCh37]
Chr4:128839922..128978087 [NCBI36]
Chr4:4q28.1		 uncertain significance
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 copy number loss See cases [RCV000143207] Chr4:117351881..133565667 [GRCh38]
Chr4:118273037..134486822 [GRCh37]
Chr4:118492485..134706272 [NCBI36]
Chr4:4q26-28.3		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_014278.4(HSPA4L):c.2151A>C (p.Glu717Asp) single nucleotide variant not specified [RCV004301477] Chr4:127827409 [GRCh38]
Chr4:128748564 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2216A>C (p.Lys739Thr) single nucleotide variant not specified [RCV004297546] Chr4:127830687 [GRCh38]
Chr4:128751842 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.340A>G (p.Ile114Val) single nucleotide variant not specified [RCV004293220] Chr4:127798620 [GRCh38]
Chr4:128719775 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1 copy number loss not provided [RCV000682448] Chr4:116307857..129302960 [GRCh37]
Chr4:4q26-28.2		 pathogenic
Single allele deletion not provided [RCV000678021] Chr4:126549693..141313049 [GRCh37]
Chr4:4q28.1-31.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q28.1-28.3(chr4:124282603-134014299)x1 copy number loss not provided [RCV000743955] Chr4:124282603..134014299 [GRCh37]
Chr4:4q28.1-28.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_014278.4(HSPA4L):c.177C>T (p.Asn59=) single nucleotide variant not provided [RCV000883742] Chr4:127795779 [GRCh38]
Chr4:128716934 [GRCh37]
Chr4:4q28.1		 benign
NM_014278.4(HSPA4L):c.2052C>T (p.Tyr684=) single nucleotide variant not provided [RCV000950670] Chr4:127827310 [GRCh38]
Chr4:128748465 [GRCh37]
Chr4:4q28.1		 benign
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
NM_014278.4(HSPA4L):c.319G>C (p.Glu107Gln) single nucleotide variant not specified [RCV004322342] Chr4:127798599 [GRCh38]
Chr4:128719754 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) copy number loss Atypical behavior [RCV001352657] Chr4:116833638..130232122 [GRCh37]
Chr4:4q26-28.2		 pathogenic
NC_000004.11:g.(?_128554190)_(128886288_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV001346938]|not provided [RCV003120576] Chr4:128554190..128886288 [GRCh37]
Chr4:4q28.1-28.2		 uncertain significance|no classifications from unflagged records
NC_000004.11:g.(?_128544537)_(129131208_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001381476] Chr4:128544537..129131208 [GRCh37]
Chr4:4q28.1-28.2		 pathogenic
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 copy number loss not provided [RCV001795851] Chr4:114872547..138005267 [GRCh37]
Chr4:4q26-28.3		 pathogenic
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) copy number loss not specified [RCV002053451] Chr4:116888785..129649979 [GRCh37]
Chr4:4q26-28.2		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
NM_014278.4(HSPA4L):c.1685C>T (p.Ser562Leu) single nucleotide variant not specified [RCV004210673] Chr4:127820438 [GRCh38]
Chr4:128741593 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2138T>C (p.Met713Thr) single nucleotide variant not specified [RCV004195875] Chr4:127827396 [GRCh38]
Chr4:128748551 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.311G>A (p.Arg104Gln) single nucleotide variant not specified [RCV004214394] Chr4:127798591 [GRCh38]
Chr4:128719746 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.415G>C (p.Asp139His) single nucleotide variant not specified [RCV004170145] Chr4:127798695 [GRCh38]
Chr4:128719850 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1648A>G (p.Ile550Val) single nucleotide variant not specified [RCV004146063] Chr4:127818394 [GRCh38]
Chr4:128739549 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2345G>A (p.Cys782Tyr) single nucleotide variant not specified [RCV004072874] Chr4:127832699 [GRCh38]
Chr4:128753854 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1482C>A (p.Ser494Arg) single nucleotide variant not specified [RCV004153776] Chr4:127811540 [GRCh38]
Chr4:128732695 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1274C>T (p.Pro425Leu) single nucleotide variant not specified [RCV004131974] Chr4:127808025 [GRCh38]
Chr4:128729180 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2017G>A (p.Val673Ile) single nucleotide variant not specified [RCV004203802] Chr4:127823595 [GRCh38]
Chr4:128744750 [GRCh37]
Chr4:4q28.1		 likely benign
NM_014278.4(HSPA4L):c.1757G>A (p.Ser586Asn) single nucleotide variant not specified [RCV004220483] Chr4:127820510 [GRCh38]
Chr4:128741665 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1516G>C (p.Asp506His) single nucleotide variant not specified [RCV004085007] Chr4:127811574 [GRCh38]
Chr4:128732729 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.253A>T (p.Ile85Phe) single nucleotide variant not specified [RCV004169809] Chr4:127795855 [GRCh38]
Chr4:128717010 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.579G>T (p.Glu193Asp) single nucleotide variant not specified [RCV004164794] Chr4:127801834 [GRCh38]
Chr4:128722989 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.252G>T (p.Arg84Ser) single nucleotide variant not specified [RCV004169808] Chr4:127795854 [GRCh38]
Chr4:128717009 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.293G>C (p.Ser98Thr) single nucleotide variant not specified [RCV004175546] Chr4:127795895 [GRCh38]
Chr4:128717050 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2219G>A (p.Cys740Tyr) single nucleotide variant not specified [RCV004316923] Chr4:127830690 [GRCh38]
Chr4:128751845 [GRCh37]
Chr4:4q28.1		 likely benign
NM_014278.4(HSPA4L):c.1238G>A (p.Gly413Glu) single nucleotide variant not specified [RCV004274663] Chr4:127805787 [GRCh38]
Chr4:128726942 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.173C>T (p.Thr58Met) single nucleotide variant not specified [RCV004248583] Chr4:127795775 [GRCh38]
Chr4:128716930 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1898A>T (p.Asp633Val) single nucleotide variant not specified [RCV004264170] Chr4:127822854 [GRCh38]
Chr4:128744009 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2237G>A (p.Ser746Asn) single nucleotide variant not specified [RCV004257004] Chr4:127830708 [GRCh38]
Chr4:128751863 [GRCh37]
Chr4:4q28.1		 likely benign
NM_014278.4(HSPA4L):c.179T>C (p.Val60Ala) single nucleotide variant not specified [RCV004333604] Chr4:127795781 [GRCh38]
Chr4:128716936 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1342A>C (p.Asn448His) single nucleotide variant not specified [RCV004356874] Chr4:127808093 [GRCh38]
Chr4:128729248 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1402T>A (p.Phe468Ile) single nucleotide variant not specified [RCV004361190] Chr4:127811460 [GRCh38]
Chr4:128732615 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.583C>G (p.Pro195Ala) single nucleotide variant not specified [RCV004345522] Chr4:127801838 [GRCh38]
Chr4:128722993 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.539C>T (p.Ala180Val) single nucleotide variant not provided [RCV003435163] Chr4:127801794 [GRCh38]
Chr4:128722949 [GRCh37]
Chr4:4q28.1		 likely benign
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
NM_014278.4(HSPA4L):c.1515C>T (p.Gly505=) single nucleotide variant not provided [RCV003439496] Chr4:127811573 [GRCh38]
Chr4:128732728 [GRCh37]
Chr4:4q28.1		 likely benign
NM_014278.4(HSPA4L):c.2421T>C (p.Asn807=) single nucleotide variant not provided [RCV003435164] Chr4:127832775 [GRCh38]
Chr4:128753930 [GRCh37]
Chr4:4q28.1		 likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_014278.4(HSPA4L):c.1066A>G (p.Lys356Glu) single nucleotide variant not specified [RCV004404677] Chr4:127805153 [GRCh38]
Chr4:128726308 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1577T>C (p.Met526Thr) single nucleotide variant not specified [RCV004404678] Chr4:127811635 [GRCh38]
Chr4:128732790 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1737T>G (p.Ser579Arg) single nucleotide variant not specified [RCV004404680] Chr4:127820490 [GRCh38]
Chr4:128741645 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1821G>A (p.Met607Ile) single nucleotide variant not specified [RCV004404681] Chr4:127822777 [GRCh38]
Chr4:128743932 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2038G>A (p.Glu680Lys) single nucleotide variant not specified [RCV004404682] Chr4:127823616 [GRCh38]
Chr4:128744771 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2185C>G (p.Leu729Val) single nucleotide variant not specified [RCV004404683] Chr4:127830656 [GRCh38]
Chr4:128751811 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2423G>A (p.Gly808Asp) single nucleotide variant not specified [RCV004404684] Chr4:127832777 [GRCh38]
Chr4:128753932 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2429T>C (p.Met810Thr) single nucleotide variant not specified [RCV004404685] Chr4:127832783 [GRCh38]
Chr4:128753938 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.272T>C (p.Leu91Pro) single nucleotide variant not specified [RCV004404686] Chr4:127795874 [GRCh38]
Chr4:128717029 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.794G>A (p.Arg265His) single nucleotide variant not specified [RCV004404687] Chr4:127803759 [GRCh38]
Chr4:128724914 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.835G>A (p.Ala279Thr) single nucleotide variant not specified [RCV004635240] Chr4:127803800 [GRCh38]
Chr4:128724955 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1190T>G (p.Leu397Arg) single nucleotide variant not specified [RCV004635241] Chr4:127805739 [GRCh38]
Chr4:128726894 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.2435G>T (p.Gly812Val) single nucleotide variant not specified [RCV004626284] Chr4:127832789 [GRCh38]
Chr4:128753944 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_014278.4(HSPA4L):c.1948A>C (p.Lys650Gln) single nucleotide variant not specified [RCV004635239] Chr4:127823526 [GRCh38]
Chr4:128744681 [GRCh37]
Chr4:4q28.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2933
Count of miRNA genes:986
Interacting mature miRNAs:1207
Transcripts:ENST00000296464, ENST00000439123, ENST00000505726, ENST00000508549, ENST00000508776, ENST00000515262
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406997170GWAS646146_Hreticulocyte measurement QTL GWAS646146 (human)1e-09reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)4127789418127789419Human
1643256BW127_HBody Weight QTL 127 (human)1.310.007Body weightbody mass index4106319694132319694Human
407082280GWAS731256_Hunipolar depression QTL GWAS731256 (human)0.000005unipolar depression4127836228127836229Human

Markers in Region
G33318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374128,722,875 - 128,722,964UniSTSGRCh37
Build 364128,942,325 - 128,942,414RGDNCBI36
Celera4126,101,829 - 126,101,918RGD
Cytogenetic Map4q28UniSTS
HuRef4124,450,535 - 124,450,624UniSTS
APG-_1_9274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374128,753,905 - 128,754,548UniSTSGRCh37
Build 364128,973,355 - 128,973,998RGDNCBI36
Celera4126,132,855 - 126,133,498RGD
HuRef4124,481,570 - 124,482,213UniSTS
D4S587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374128,722,705 - 128,722,949UniSTSGRCh37
Build 364128,942,155 - 128,942,399RGDNCBI36
Celera4126,101,659 - 126,101,903RGD
Cytogenetic Map4q28UniSTS
HuRef4124,450,365 - 124,450,609UniSTS
TNG Radiation Hybrid Map479270.0UniSTS


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
visual system
1204 2431 2788 2248 4968 1726 2348 4 622 1896 465 2268 7234 6405 52 3731 849 1739 1614 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY290862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM679019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB051636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB086945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF197155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000296464   ⟹   ENSP00000296464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,782,322 - 127,840,733 (+)Ensembl
Ensembl Acc Id: ENST00000505726   ⟹   ENSP00000425645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,783,549 - 127,832,968 (+)Ensembl
Ensembl Acc Id: ENST00000508549   ⟹   ENSP00000427305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,782,322 - 127,820,469 (+)Ensembl
Ensembl Acc Id: ENST00000508776   ⟹   ENSP00000422482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,781,821 - 127,833,042 (+)Ensembl
Ensembl Acc Id: ENST00000515262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,813,018 - 127,820,521 (+)Ensembl
RefSeq Acc Id: NM_001317381   ⟹   NP_001304310
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,781,796 - 127,840,733 (+)NCBI
CHM1_14128,679,434 - 128,731,687 (+)NCBI
T2T-CHM13v2.04131,084,803 - 131,143,731 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317382   ⟹   NP_001304311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,783,523 - 127,840,733 (+)NCBI
CHM1_14128,681,136 - 128,731,687 (+)NCBI
T2T-CHM13v2.04131,086,529 - 131,143,731 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317383   ⟹   NP_001304312
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,782,322 - 127,840,733 (+)NCBI
CHM1_14128,679,822 - 128,731,687 (+)NCBI
T2T-CHM13v2.04131,085,329 - 131,143,731 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014278   ⟹   NP_055093
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,782,322 - 127,840,733 (+)NCBI
GRCh374128,703,453 - 128,755,228 (+)NCBI
Build 364128,922,903 - 128,973,976 (+)NCBI Archive
Celera4126,082,422 - 126,133,472 (+)RGD
HuRef4124,431,126 - 124,482,187 (+)RGD
CHM1_14128,679,822 - 128,731,687 (+)NCBI
T2T-CHM13v2.04131,085,329 - 131,143,731 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531745   ⟹   XP_011530047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,782,322 - 127,811,637 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054349269   ⟹   XP_054205244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,085,329 - 131,114,634 (+)NCBI
RefSeq Acc Id: NP_055093   ⟸   NM_014278
- Peptide Label: isoform 1
- UniProtKB: Q4W5M5 (UniProtKB/Swiss-Prot),   A2ICT2 (UniProtKB/Swiss-Prot),   Q8IWA2 (UniProtKB/Swiss-Prot),   O95757 (UniProtKB/Swiss-Prot),   A0A140VKE7 (UniProtKB/TrEMBL),   Q53ZP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530047   ⟸   XM_011531745
- Peptide Label: isoform X1
- UniProtKB: B3KNM0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304310   ⟸   NM_001317381
- Peptide Label: isoform 2
- UniProtKB: B4DZR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304312   ⟸   NM_001317383
- Peptide Label: isoform 4
- UniProtKB: Q53ZP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304311   ⟸   NM_001317382
- Peptide Label: isoform 3
- UniProtKB: B4DXT2 (UniProtKB/TrEMBL),   E9PDE8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000425645   ⟸   ENST00000505726
Ensembl Acc Id: ENSP00000296464   ⟸   ENST00000296464
Ensembl Acc Id: ENSP00000422482   ⟸   ENST00000508776
Ensembl Acc Id: ENSP00000427305   ⟸   ENST00000508549
RefSeq Acc Id: XP_054205244   ⟸   XM_054349269
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95757-F1-model_v2 AlphaFold O95757 1-839 view protein structure

Promoters
RGD ID:6868444
Promoter ID:EPDNEW_H7387
Type:initiation region
Name:HSPA4L_1
Description:heat shock protein family A member 4 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,782,322 - 127,782,382EPDNEW
RGD ID:6802373
Promoter ID:HG_KWN:49085
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000257096,   UC010INY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364128,922,571 - 128,923,237 (+)MPROMDB
RGD ID:6812528
Promoter ID:HG_ACW:60859
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:HSPA4L.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 364128,923,726 - 128,924,226 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17041 AgrOrtholog
COSMIC HSPA4L COSMIC
Ensembl Genes ENSG00000164070 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296464 ENTREZGENE
  ENST00000296464.9 UniProtKB/Swiss-Prot
  ENST00000505726 ENTREZGENE
  ENST00000505726.1 UniProtKB/TrEMBL
  ENST00000508549.5 UniProtKB/TrEMBL
  ENST00000508776.5 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 ENSG00000164070 GTEx
HGNC ID HGNC:17041 ENTREZGENE
Human Proteome Map HSPA4L Human Proteome Map
InterPro ATPase_NBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Heat_shock_70_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSP70 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
  HSPA4L_NBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22824 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 22824 ENTREZGENE
OMIM 619077 OMIM
PANTHER HEAT SHOCK 70 KDA PROTEIN 4L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSC70CB, ISOFORM G-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HSP70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134905749 PharmGKB
PRINTS HEATSHOCK70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HSP70_2 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 A0A140VKE7 ENTREZGENE, UniProtKB/TrEMBL
  A2ICT2 ENTREZGENE
  B3KNM0 ENTREZGENE, UniProtKB/TrEMBL
  B4DXT2 ENTREZGENE, UniProtKB/TrEMBL
  B4DZR0 ENTREZGENE, UniProtKB/TrEMBL
  D6RJ96_HUMAN UniProtKB/TrEMBL
  E9PDE8 ENTREZGENE, UniProtKB/TrEMBL
  HS74L_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4W5M5 ENTREZGENE
  Q53ZP9 ENTREZGENE, UniProtKB/TrEMBL
  Q8IWA2 ENTREZGENE
UniProt Secondary A2ICT2 UniProtKB/Swiss-Prot
  Q4W5M5 UniProtKB/Swiss-Prot
  Q8IWA2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 HSPA4L  heat shock protein family A (Hsp70) member 4 like    heat shock 70kDa protein 4-like  Symbol and/or name change 5135510 APPROVED