AQP3 (aquaporin 3 (Gill blood group)) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: AQP3 (aquaporin 3 (Gill blood group)) Homo sapiens
Analyze
Symbol: AQP3
Name: aquaporin 3 (Gill blood group)
RGD ID: 68638
HGNC Page HGNC:636
Description: Enables glycerol channel activity; identical protein binding activity; and water channel activity. Involved in several processes, including glycerol transmembrane transport; response to retinoic acid; and water transport. Acts upstream of or within cellular response to hypoxia. Located in several cellular components, including cell-cell junction; nucleoplasm; and plasma membrane. Biomarker of brain edema.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AQP-3; aquaglyceroporin-3; aquaporin 3; aquaporin 3 (GIL blood group); aquaporin-3; GIL; Gill blood group
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
GRCh38933,441,160 - 33,447,593 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl933,441,156 - 33,447,596 (-)EnsemblGRCh38hg38GRCh38
GRCh37933,441,158 - 33,447,591 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36933,431,158 - 33,437,590 (-)NCBINCBI36Build 36hg18NCBI36
Build 34933,431,161 - 33,437,590NCBI
Celera933,371,265 - 33,377,697 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef933,397,455 - 33,403,933 (-)NCBIHuRef
CHM1_1933,440,929 - 33,447,408 (-)NCBICHM1_1
T2T-CHM13v2.0933,459,659 - 33,466,091 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,10-phenanthroline  (EXP)
1,4-phenylenediamine  (EXP)
1-fluoro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2-hydroxypropanoic acid  (EXP)
2-methyl-1,4-phenylenediamine  (EXP)
2-palmitoylglycerol  (EXP)
3',5'-cyclic AMP  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-Nitro-2-(3-phenylpropylamino)benzoic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
ampicillin  (EXP)
antirheumatic drug  (EXP)
arachidonic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
azathioprine  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
camptothecin  (EXP)
cannabidiol  (EXP,ISO)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorogenic acid  (EXP)
choline  (ISO)
ciglitazone  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
Clofop  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP,ISO)
coumestrol  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
D-glucose  (EXP)
DDE  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dichlorine  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diprotium oxide  (EXP,ISO)
diquat  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
fenamic acid  (EXP)
fenofibrate  (ISO)
fluoxetine  (EXP,ISO)
folic acid  (ISO)
formaldehyde  (ISO)
furan  (ISO)
genistein  (EXP,ISO)
glucose  (EXP)
glycerol  (EXP,ISO)
hydroquinone  (EXP)
isoflavones  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
lucanthone  (EXP)
LY294002  (EXP)
malvidin 3-O-beta-D-glucoside  (EXP)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
mercaptoethanol  (EXP)
mercury dichloride  (EXP,ISO)
methimazole  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP,ISO)
morphine  (ISO)
Muraglitazar  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodimethylamine  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
nitrofen  (ISO)
Nutlin-3  (EXP)
Osajin  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
palmitoyl ethanolamide  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
petunidin 3-O-beta-D-glucoside  (EXP)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
Pomiferin  (EXP)
proanthocyanidin  (EXP)
procyanidin B1  (EXP)
procyanidin B3  (EXP)
progesterone  (EXP)
propanal  (EXP)
puerarin  (EXP)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rac-lactic acid  (EXP)
resorcinol  (EXP)
resveratrol  (EXP)
rifampicin  (EXP)
Rosavin  (EXP)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
selenium atom  (EXP)
serotonin  (EXP,ISO)
sevoflurane  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sulforaphane  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
thiourea  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
triacsin C  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vitamin E  (EXP)
water  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
basolateral plasma membrane  (IBA,IEA,ISS)
cell-cell junction  (IDA,IEA)
cytoplasm  (IDA)
membrane  (IC,IEA)
nucleoplasm  (IDA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Urinary concentrating defect in hypothyroid rats: role of sodium, potassium, 2-chloride co-transporter, and aquaporins. Cadnapaphornchai MA, etal., J Am Soc Nephrol 2003 Mar;14(3):566-74.
2. Human neuronal changes in brain edema and increased intracranial pressure. Faragó N, etal., Acta Neuropathol Commun. 2016 Aug 4;4(1):78. doi: 10.1186/s40478-016-0356-x.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Aquaporins in the kidney. Kwon TH, etal., Handb Exp Pharmacol. 2009;(190):95-132. doi: 10.1007/978-3-540-79885-9_5.
5. Downregulation of renal aquaporins in response to unilateral ureteral obstruction. Li C, etal., Am J Physiol Renal Physiol 2003 May;284(5):F1066-79.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Temporal changes in expression of aquaporin-3, -4, -5 and -8 in rat brains after permanent focal cerebral ischemia. Yang M, etal., Brain Res. 2009 Sep 22;1290:121-32. Epub 2009 Jul 16.
Additional References at PubMed
PMID:1373524   PMID:1510932   PMID:7530250   PMID:7543093   PMID:7558005   PMID:8641135   PMID:9369468   PMID:9405233   PMID:9525951   PMID:9558461   PMID:9806845   PMID:9829975  
PMID:10318966   PMID:10510269   PMID:10564231   PMID:11001937   PMID:11034202   PMID:11076974   PMID:11573934   PMID:11751877   PMID:11918716   PMID:12084581   PMID:12234316   PMID:12239222  
PMID:12477932   PMID:12522663   PMID:12769265   PMID:12773542   PMID:14514735   PMID:14521551   PMID:14675200   PMID:14701836   PMID:14702039   PMID:15164053   PMID:15375592   PMID:15489334  
PMID:15703994   PMID:15948717   PMID:16043462   PMID:16344560   PMID:16596446   PMID:16638588   PMID:16672223   PMID:16918518   PMID:17056099   PMID:17178220   PMID:17471492   PMID:17545093  
PMID:17943189   PMID:17968524   PMID:18036046   PMID:18197497   PMID:18202181   PMID:18247144   PMID:18280225   PMID:18435676   PMID:18501347   PMID:18511455   PMID:18543247   PMID:18601899  
PMID:18678926   PMID:18718702   PMID:18762715   PMID:19184071   PMID:19322201   PMID:19393693   PMID:19545896   PMID:19619514   PMID:19913121   PMID:20106632   PMID:20141731   PMID:20364107  
PMID:20428189   PMID:20485009   PMID:20546216   PMID:20596606   PMID:20628086   PMID:21063116   PMID:21135872   PMID:21191421   PMID:21237499   PMID:21251984   PMID:21252246   PMID:21276418  
PMID:21401805   PMID:21457357   PMID:21538271   PMID:21873635   PMID:21907710   PMID:22197473   PMID:22211241   PMID:22535323   PMID:22576684   PMID:22624030   PMID:22808259   PMID:22814259  
PMID:22901156   PMID:23017148   PMID:23041062   PMID:23043286   PMID:23152856   PMID:23165320   PMID:23463292   PMID:23797770   PMID:23800944   PMID:23974882   PMID:24022233   PMID:24224160  
PMID:24260356   PMID:24338365   PMID:24418925   PMID:24452376   PMID:24462679   PMID:24488947   PMID:24508472   PMID:24623722   PMID:24726500   PMID:24887009   PMID:24918928   PMID:25105540  
PMID:25299207   PMID:25450461   PMID:25515250   PMID:25603981   PMID:25721378   PMID:25766885   PMID:25914463   PMID:25961543   PMID:25964557   PMID:26100668   PMID:26107428   PMID:26219409  
PMID:26261083   PMID:26313002   PMID:26454884   PMID:26506416   PMID:26509906   PMID:26568619   PMID:26760575   PMID:26765123   PMID:26768614   PMID:26786101   PMID:26794461   PMID:26810286  
PMID:26830227   PMID:26896765   PMID:26918728   PMID:26923934   PMID:27022216   PMID:27121567   PMID:27509294   PMID:27814615   PMID:27824951   PMID:27835672   PMID:28042826   PMID:28049834  
PMID:28189680   PMID:28377226   PMID:28595905   PMID:28656282   PMID:28708257   PMID:28732436   PMID:28766180   PMID:29046361   PMID:29108637   PMID:29415990   PMID:29532894   PMID:29563612  
PMID:29567477   PMID:29729115   PMID:29925705   PMID:30110699   PMID:30285121   PMID:30420639   PMID:30515575   PMID:30531392   PMID:30659792   PMID:30739344   PMID:31197130   PMID:31220652  
PMID:31261369   PMID:31305898   PMID:31373900   PMID:31541456   PMID:32289285   PMID:32296183   PMID:32298487   PMID:32319574   PMID:32330444   PMID:32382899   PMID:32393512   PMID:32469934  
PMID:32521638   PMID:32521874   PMID:32627013   PMID:32936667   PMID:32957104   PMID:33099905   PMID:33231721   PMID:33232321   PMID:33612088   PMID:33781292   PMID:33917751   PMID:33924231  
PMID:33933702   PMID:33961781   PMID:34021497   PMID:34091997   PMID:34231101   PMID:34319590   PMID:34627746   PMID:34650163   PMID:34755729   PMID:34800429   PMID:35455986   PMID:35470510  
PMID:35637961   PMID:35957833   PMID:36038817   PMID:36083020   PMID:36437598   PMID:37175840   PMID:37267058   PMID:38279209   PMID:38338680   PMID:38726865  


Genomics

Comparative Map Data
AQP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38933,441,160 - 33,447,593 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl933,441,156 - 33,447,596 (-)EnsemblGRCh38hg38GRCh38
GRCh37933,441,158 - 33,447,591 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36933,431,158 - 33,437,590 (-)NCBINCBI36Build 36hg18NCBI36
Build 34933,431,161 - 33,437,590NCBI
Celera933,371,265 - 33,377,697 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef933,397,455 - 33,403,933 (-)NCBIHuRef
CHM1_1933,440,929 - 33,447,408 (-)NCBICHM1_1
T2T-CHM13v2.0933,459,659 - 33,466,091 (-)NCBIT2T-CHM13v2.0
Aqp3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39441,092,724 - 41,098,183 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl441,092,722 - 41,098,183 (-)EnsemblGRCm39 Ensembl
GRCm38441,092,724 - 41,098,183 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl441,092,722 - 41,098,183 (-)EnsemblGRCm38mm10GRCm38
MGSCv37441,039,757 - 41,045,216 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36441,281,477 - 41,286,849 (-)NCBIMGSCv36mm8
Celera440,753,580 - 40,759,039 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map420.94NCBI
Aqp3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8561,035,165 - 61,040,683 (-)NCBIGRCr8
mRatBN7.2556,239,200 - 56,244,718 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl556,239,201 - 56,244,720 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx558,214,542 - 58,220,027 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0560,033,565 - 60,039,050 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0560,018,965 - 60,024,339 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0557,423,735 - 57,429,252 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl557,423,734 - 57,429,245 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0561,954,830 - 61,960,347 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4558,501,642 - 58,507,159 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1558,501,820 - 58,507,338 (-)NCBI
Celera554,836,731 - 54,842,234 (-)NCBICelera
Cytogenetic Map5q22NCBI
Aqp3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554722,234,770 - 2,240,027 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554722,234,770 - 2,239,753 (+)NCBIChiLan1.0ChiLan1.0
AQP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21191,153,391 - 91,159,857 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1991,159,328 - 91,165,801 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0933,221,989 - 33,228,469 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1934,032,983 - 34,039,438 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl934,032,983 - 34,039,438 (-)Ensemblpanpan1.1panPan2
AQP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11150,517,509 - 50,524,565 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1149,147,497 - 49,154,480 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01151,458,242 - 51,465,233 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1151,458,249 - 51,464,338 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11150,122,208 - 50,128,303 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01149,989,326 - 49,996,305 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01150,754,568 - 50,761,559 (-)NCBIUU_Cfam_GSD_1.0
Aqp3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947165,416,549 - 165,422,364 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365241,963,247 - 1,969,998 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365241,963,427 - 1,969,977 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AQP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1033,045,245 - 33,051,082 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11033,045,374 - 33,050,285 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21037,307,632 - 37,312,545 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AQP3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11246,817,790 - 46,825,154 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603843,708,128 - 43,714,966 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aqp3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473638,194,545 - 38,201,036 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473638,194,722 - 38,200,961 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AQP3
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004925.5(AQP3):c.710+1G>A single nucleotide variant GIL BLOOD GROUP [RCV000009961] Chr9:33442300 [GRCh38]
Chr9:33442298 [GRCh37]
Chr9:9p13.3
pathogenic|affects
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p21.1-13.3(chr9:32912345-33564154)x3 copy number gain not provided [RCV000748375] Chr9:32912345..33564154 [GRCh37]
Chr9:9p21.1-13.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_004925.5(AQP3):c.132C>T (p.Ala44=) single nucleotide variant not provided [RCV000893140] Chr9:33443869 [GRCh38]
Chr9:33443867 [GRCh37]
Chr9:9p13.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic
NC_000009.11:g.(?_32399559)_(33541225_?)dup duplication not provided [RCV001324921] Chr9:32399559..33541225 [GRCh37]
Chr9:9p21.1-13.3
uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33
likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2
uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32
pathogenic
NC_000009.11:g.(?_32453279)_(35068379_?)dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109611] Chr9:32453279..35068379 [GRCh37]
Chr9:9p21.1-13.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1
likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1
uncertain significance
NM_004925.5(AQP3):c.559C>T (p.Pro187Ser) single nucleotide variant not specified [RCV004305865] Chr9:33442452 [GRCh38]
Chr9:33442450 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_004925.5(AQP3):c.61C>G (p.Leu21Val) single nucleotide variant not specified [RCV004164680] Chr9:33447470 [GRCh38]
Chr9:33447468 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_004925.5(AQP3):c.256G>A (p.Val86Met) single nucleotide variant not specified [RCV004085571] Chr9:33443438 [GRCh38]
Chr9:33443436 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_004925.5(AQP3):c.220G>A (p.Ala74Thr) single nucleotide variant not specified [RCV004096629] Chr9:33443781 [GRCh38]
Chr9:33443779 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_004925.5(AQP3):c.22G>C (p.Val8Leu) single nucleotide variant not specified [RCV004363470] Chr9:33447509 [GRCh38]
Chr9:33447507 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_004925.5(AQP3):c.105G>C (p.Leu35=) single nucleotide variant AQP3-related disorder [RCV003974439] Chr9:33447426 [GRCh38]
Chr9:33447424 [GRCh37]
Chr9:9p13.3
benign
NM_004925.5(AQP3):c.670C>A (p.Leu224Ile) single nucleotide variant not specified [RCV004420035] Chr9:33442341 [GRCh38]
Chr9:33442339 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_004925.5(AQP3):c.668G>A (p.Arg223His) single nucleotide variant not specified [RCV004420034] Chr9:33442343 [GRCh38]
Chr9:33442341 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_004925.5(AQP3):c.390C>T (p.Phe130=) single nucleotide variant AQP3-related disorder [RCV003977328] Chr9:33442954 [GRCh38]
Chr9:33442952 [GRCh37]
Chr9:9p13.3
benign
NM_004925.5(AQP3):c.*46T>G single nucleotide variant AQP3-related disorder [RCV003959856] Chr9:33441997 [GRCh38]
Chr9:33441995 [GRCh37]
Chr9:9p13.3
likely benign
NC_000009.11:g.(?_33436037)_(37436779_?)del deletion Spastic paraplegia [RCV004581844] Chr9:33436037..37436779 [GRCh37]
Chr9:9p13.3-13.2
pathogenic
NC_000009.11:g.(?_32453279)_(36276941_?)dup duplication not provided [RCV004582073] Chr9:32453279..36276941 [GRCh37]
Chr9:9p21.1-13.3
uncertain significance
NM_004925.5(AQP3):c.715G>A (p.Gly239Ser) single nucleotide variant not specified [RCV004253815] Chr9:33442207 [GRCh38]
Chr9:33442205 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1767
Count of miRNA genes:760
Interacting mature miRNAs:884
Transcripts:ENST00000297991, ENST00000463983, ENST00000473153, ENST00000493581, ENST00000494313
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
SGC34487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,441,211 - 33,441,335UniSTSGRCh37
Build 36933,431,211 - 33,431,335RGDNCBI36
Celera933,371,318 - 33,371,442RGD
Cytogenetic Map9p13UniSTS
HuRef933,397,514 - 33,397,638UniSTS
Whitehead-RH Map9160.1UniSTS
NCBI RH Map9420.8UniSTS
SHGC-34032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,441,219 - 33,441,346UniSTSGRCh37
Build 36933,431,219 - 33,431,346RGDNCBI36
Celera933,371,326 - 33,371,453RGD
Cytogenetic Map9p13UniSTS
HuRef933,397,522 - 33,397,649UniSTS
Stanford-G3 RH Map91412.0UniSTS
GeneMap99-GB4 RH Map9132.33UniSTS
Whitehead-RH Map9140.6UniSTS
NCBI RH Map9424.1UniSTS
GeneMap99-G3 RH Map91459.0UniSTS
AQP3_2497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,441,010 - 33,441,818UniSTSGRCh37
Build 36933,431,010 - 33,431,818RGDNCBI36
Celera933,371,117 - 33,371,925RGD
HuRef933,397,313 - 33,398,121UniSTS
RH46411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,441,235 - 33,441,402UniSTSGRCh37
Build 36933,431,235 - 33,431,402RGDNCBI36
Celera933,371,342 - 33,371,509RGD
Cytogenetic Map9p13UniSTS
HuRef933,397,538 - 33,397,705UniSTS
GeneMap99-GB4 RH Map9123.88UniSTS
RH46932  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p13UniSTS
Aqp3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,442,067 - 33,443,397UniSTSGRCh37
GRCh37933,442,071 - 33,442,890UniSTSGRCh37
Celera933,372,178 - 33,372,997UniSTS
Celera933,372,174 - 33,373,504UniSTS
HuRef933,398,374 - 33,399,193UniSTS
HuRef933,398,370 - 33,399,700UniSTS
Aqp3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,442,067 - 33,443,397UniSTSGRCh37
GRCh37933,442,071 - 33,442,890UniSTSGRCh37
Celera933,372,178 - 33,372,997UniSTS
Celera933,372,174 - 33,373,504UniSTS
HuRef933,398,374 - 33,399,193UniSTS
HuRef933,398,370 - 33,399,700UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB001325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ493596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ493597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF437236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA976040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ083949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM515348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000297991   ⟹   ENSP00000297991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,441,160 - 33,447,593 (-)Ensembl
Ensembl Acc Id: ENST00000463983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,442,304 - 33,447,582 (-)Ensembl
Ensembl Acc Id: ENST00000473153   ⟹   ENSP00000494946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,442,381 - 33,447,509 (-)Ensembl
Ensembl Acc Id: ENST00000493581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,441,156 - 33,447,596 (-)Ensembl
Ensembl Acc Id: ENST00000494313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,441,790 - 33,443,109 (-)Ensembl
Ensembl Acc Id: ENST00000643650   ⟹   ENSP00000493567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,442,865 - 33,447,596 (-)Ensembl
Ensembl Acc Id: ENST00000645858   ⟹   ENSP00000493516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,441,808 - 33,447,553 (-)Ensembl
RefSeq Acc Id: NM_001318144   ⟹   NP_001305073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,441,160 - 33,447,593 (-)NCBI
CHM1_1933,440,929 - 33,447,408 (-)NCBI
T2T-CHM13v2.0933,459,659 - 33,466,091 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004925   ⟹   NP_004916
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,441,160 - 33,447,593 (-)NCBI
GRCh37933,441,152 - 33,447,631 (-)NCBI
Build 36933,431,158 - 33,437,590 (-)NCBI Archive
HuRef933,397,455 - 33,403,933 (-)NCBI
CHM1_1933,440,929 - 33,447,408 (-)NCBI
T2T-CHM13v2.0933,459,659 - 33,466,091 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423348   ⟹   XP_047279304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,442,852 - 33,447,593 (-)NCBI
RefSeq Acc Id: XM_054362921   ⟹   XP_054218896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0933,461,351 - 33,466,091 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001305073 (Get FASTA)   NCBI Sequence Viewer  
  NP_004916 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279304 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218896 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH13566 (Get FASTA)   NCBI Sequence Viewer  
  AAP35863 (Get FASTA)   NCBI Sequence Viewer  
  AAY68214 (Get FASTA)   NCBI Sequence Viewer  
  BAA09077 (Get FASTA)   NCBI Sequence Viewer  
  BAA19237 (Get FASTA)   NCBI Sequence Viewer  
  BAF84897 (Get FASTA)   NCBI Sequence Viewer  
  BAG38113 (Get FASTA)   NCBI Sequence Viewer  
  BAG64296 (Get FASTA)   NCBI Sequence Viewer  
  CAD38526 (Get FASTA)   NCBI Sequence Viewer  
  CAG46788 (Get FASTA)   NCBI Sequence Viewer  
  CAG46822 (Get FASTA)   NCBI Sequence Viewer  
  CCF76945 (Get FASTA)   NCBI Sequence Viewer  
  EAW58500 (Get FASTA)   NCBI Sequence Viewer  
  EAW58501 (Get FASTA)   NCBI Sequence Viewer  
  EAW58502 (Get FASTA)   NCBI Sequence Viewer  
  EAW58503 (Get FASTA)   NCBI Sequence Viewer  
  EAW58504 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000297991
  ENSP00000297991.4
  ENSP00000493516
  ENSP00000493516.1
  ENSP00000493567.1
  ENSP00000494946
  ENSP00000494946.1
GenBank Protein Q92482 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09779 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09780 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09781 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09782 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09783 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09784 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09785 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09786 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09787 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09788 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09789 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09790 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09791 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09792 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09793 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09794 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09795 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09796 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09797 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09798 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09799 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09800 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09801 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09802 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09803 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09804 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09805 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09806 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09807 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09808 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09809 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09810 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09811 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09812 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09813 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09814 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09815 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09816 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09817 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09818 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09819 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09820 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09821 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09822 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09823 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09824 (Get FASTA)   NCBI Sequence Viewer  
  WAJ09825 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004916   ⟸   NM_004925
- Peptide Label: isoform 1
- UniProtKB: Q6FGT2 (UniProtKB/Swiss-Prot),   O00108 (UniProtKB/Swiss-Prot),   D3DRL3 (UniProtKB/Swiss-Prot),   B2RE16 (UniProtKB/Swiss-Prot),   A8K843 (UniProtKB/Swiss-Prot),   Q6FGW6 (UniProtKB/Swiss-Prot),   Q92482 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305073   ⟸   NM_001318144
- Peptide Label: isoform 2
- UniProtKB: A0A2R8Y2R4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000297991   ⟸   ENST00000297991
Ensembl Acc Id: ENSP00000493567   ⟸   ENST00000643650
Ensembl Acc Id: ENSP00000494946   ⟸   ENST00000473153
Ensembl Acc Id: ENSP00000493516   ⟸   ENST00000645858
RefSeq Acc Id: XP_047279304   ⟸   XM_047423348
- Peptide Label: isoform X1
- UniProtKB: A0A2R8YDV4 (UniProtKB/TrEMBL),   B4E034 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218896   ⟸   XM_054362921
- Peptide Label: isoform X1
- UniProtKB: A0A2R8YDV4 (UniProtKB/TrEMBL),   B4E034 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92482-F1-model_v2 AlphaFold Q92482 1-292 view protein structure

Promoters
RGD ID:6807241
Promoter ID:HG_KWN:62924
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003ZSW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,432,706 - 33,433,206 (-)MPROMDB
RGD ID:6807590
Promoter ID:HG_KWN:62926
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000343952,   ENST00000379492,   OTTHUMT00000052055,   OTTHUMT00000052056,   OTTHUMT00000207489,   OTTHUMT00000207490,   UC010MJU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,437,371 - 33,438,282 (-)MPROMDB
RGD ID:6851458
Promoter ID:EP73530
Type:single initiation site
Name:HS_AQP3
Description:Aquaporin 3.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,437,591 - 33,437,651EPD
RGD ID:7214885
Promoter ID:EPDNEW_H13189
Type:initiation region
Name:AQP3_1
Description:aquaporin 3
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
GRCh38933,447,593 - 33,447,653EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:636 AgrOrtholog
COSMIC AQP3 COSMIC
Ensembl Genes ENSG00000165272 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000297991 ENTREZGENE
  ENST00000297991.6 UniProtKB/Swiss-Prot
  ENST00000473153 ENTREZGENE
  ENST00000473153.1 UniProtKB/TrEMBL
  ENST00000643650.1 UniProtKB/TrEMBL
  ENST00000645858 ENTREZGENE
  ENST00000645858.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1080.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165272 GTEx
HGNC ID HGNC:636 ENTREZGENE
Human Proteome Map AQP3 Human Proteome Map
InterPro Aquaporin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aquaporin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIP/Aquaporin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:360 UniProtKB/Swiss-Prot
NCBI Gene 360 ENTREZGENE
OMIM 600170 OMIM
PANTHER AQUAPORIN OR AQUAGLYCEROPORIN RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AQUAPORIN-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24921 PharmGKB
PRINTS AQUAPORIN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MINTRINSICP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81338 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y2R4 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YD22_HUMAN UniProtKB/TrEMBL
  A0A2R8YDV4 ENTREZGENE, UniProtKB/TrEMBL
  A8K843 ENTREZGENE
  AQP3_HUMAN UniProtKB/Swiss-Prot
  B2RE16 ENTREZGENE
  B4E034 ENTREZGENE, UniProtKB/TrEMBL
  D3DRL3 ENTREZGENE
  O00108 ENTREZGENE
  Q6FGT2 ENTREZGENE
  Q6FGW6 ENTREZGENE
  Q92482 ENTREZGENE
UniProt Secondary A8K843 UniProtKB/Swiss-Prot
  B2RE16 UniProtKB/Swiss-Prot
  D3DRL3 UniProtKB/Swiss-Prot
  O00108 UniProtKB/Swiss-Prot
  Q6FGT2 UniProtKB/Swiss-Prot
  Q6FGW6 UniProtKB/Swiss-Prot