AQP9 (aquaporin 9) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: AQP9 (aquaporin 9) Homo sapiens
Analyze
Symbol: AQP9
Name: aquaporin 9
RGD ID: 735505
HGNC Page HGNC:643
Description: Enables glycerol channel activity; urea channel activity; and water channel activity. Involved in several processes, including cellular response to cAMP; glycerol transmembrane transport; and urea transmembrane transport. Located in intracellular membrane-bounded organelle and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AQP-9; aquaglyceroporin-9; aquaporin-9; HsT17287; small solute channel 1; SSC1; T17287
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
GRCh381558,138,169 - 58,185,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1558,138,169 - 58,185,911 (+)EnsemblGRCh38hg38GRCh38
GRCh371558,430,368 - 58,478,110 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361556,217,700 - 56,265,402 (+)NCBINCBI36Build 36hg18NCBI36
Build 341556,217,770 - 56,265,401NCBI
Celera1535,319,964 - 35,368,212 (+)NCBICelera
Cytogenetic Map15q21.3NCBI
HuRef1535,253,376 - 35,301,102 (+)NCBIHuRef
CHM1_11558,548,384 - 58,596,089 (+)NCBICHM1_1
T2T-CHM13v2.01555,940,466 - 55,988,212 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxypropanoic acid  (EXP,ISO)
3-hydroxybutyric acid  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
acetamide  (ISO)
adenine  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
androstane-3,17-diol  (ISO)
antimony(0)  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
astragaloside IV  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
calcitriol  (EXP)
cannabidiol  (ISO)
carbon nanotube  (EXP)
carbonyl cyanide p-trifluoromethoxyphenylhydrazone  (EXP)
CGP 52608  (EXP)
cholesterol  (EXP)
choline  (ISO)
cobalt atom  (EXP)
copper(II) chloride  (EXP)
curcumin  (EXP)
cycloastragenol  (ISO)
cyclosporin A  (EXP)
D-glucitol  (ISO)
D-mannitol  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dieldrin  (ISO)
dioxygen  (ISO)
diprotium oxide  (EXP,ISO)
endosulfan  (EXP)
fenofibrate  (EXP)
fenthion  (ISO)
fipronil  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (ISO)
glycerol  (ISO)
heptachlor  (ISO)
homovanillic acid  (ISO)
indirubin  (ISO)
indirubin-3'-monoxime  (ISO)
isoflavones  (ISO)
L-methionine  (ISO)
lamivudine  (ISO)
lipopolysaccharide  (EXP)
lonidamine  (ISO)
LY294002  (EXP)
malathion  (EXP)
mercury atom  (ISO)
mercury dichloride  (EXP,ISO)
mercury(0)  (ISO)
mirex  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
nigericin  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
orphenadrine  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenformin  (ISO)
phloretin  (EXP,ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (ISO)
rac-lactic acid  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
selenic acid  (EXP)
selenous acid  (EXP)
serpentine asbestos  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
styrene  (ISO)
tamoxifen  (ISO)
Tanshinone I  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thiourea  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triphenyl phosphate  (EXP,ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
trovafloxacin  (ISO)
Tungsten carbide  (EXP)
undecane  (ISO)
urea  (EXP,ISO)
valdecoxib  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vitamin D  (EXP)
water  (EXP,ISO)
zidovudine  (EXP,ISO)
zinc dichloride  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Changes in ocular aquaporin expression following optic nerve crush. Dibas A, etal., Mol Vis. 2010 Mar 3;16:330-40.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Aquaporins in the kidney. Kwon TH, etal., Handb Exp Pharmacol. 2009;(190):95-132. doi: 10.1007/978-3-540-79885-9_5.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. LncRNA MALAT1 promotes neuropathic pain progression through the miR‑154‑5p/AQP9 axis in CCI rat models. Wu J, etal., Mol Med Rep. 2020 Jan;21(1):291-303. doi: 10.3892/mmr.2019.10829. Epub 2019 Nov 20.
Additional References at PubMed
PMID:1373524   PMID:1510932   PMID:7530250   PMID:9369468   PMID:9405233   PMID:9514918   PMID:9733774   PMID:9806845   PMID:9829975   PMID:10318966   PMID:10510269   PMID:10564231  
PMID:11001937   PMID:11034202   PMID:11076974   PMID:11466204   PMID:11573934   PMID:11597198   PMID:12084581   PMID:12477932   PMID:12681500   PMID:14701836   PMID:15336539   PMID:15489334  
PMID:15592307   PMID:15948717   PMID:16480766   PMID:16596446   PMID:17081983   PMID:17178220   PMID:17346701   PMID:17525633   PMID:17545093   PMID:17636236   PMID:18197497   PMID:18202181  
PMID:18401671   PMID:18501347   PMID:18511455   PMID:18652774   PMID:18718702   PMID:18762715   PMID:19100828   PMID:19481256   PMID:19615702   PMID:19629726   PMID:19772916   PMID:19802720  
PMID:19916714   PMID:19953087   PMID:20220109   PMID:20378617   PMID:20379614   PMID:20424473   PMID:20587318   PMID:20732771   PMID:20960106   PMID:21251984   PMID:21873454   PMID:21873635  
PMID:21945491   PMID:22262958   PMID:22319637   PMID:22425521   PMID:22916037   PMID:23238960   PMID:23383108   PMID:23448163   PMID:23563754   PMID:23573219   PMID:23612070   PMID:23866971  
PMID:24086629   PMID:24418844   PMID:24463099   PMID:24643204   PMID:25105540   PMID:25416956   PMID:25604497   PMID:26313002   PMID:26344197   PMID:26837049   PMID:27022216   PMID:27082037  
PMID:27121567   PMID:27187384   PMID:27216981   PMID:27329843   PMID:28360107   PMID:28640255   PMID:28798983   PMID:28942694   PMID:29040430   PMID:29351212   PMID:29678898   PMID:29901079  
PMID:30320400   PMID:30420639   PMID:31070762   PMID:31703694   PMID:32229502   PMID:32296183   PMID:32513696   PMID:32891005   PMID:33462668   PMID:33579525   PMID:33759071   PMID:33961781  
PMID:34268141   PMID:34470136   PMID:34786702   PMID:34927322   PMID:35076928   PMID:35477402   PMID:35508193   PMID:38279209  


Genomics

Comparative Map Data
AQP9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381558,138,169 - 58,185,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1558,138,169 - 58,185,911 (+)EnsemblGRCh38hg38GRCh38
GRCh371558,430,368 - 58,478,110 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361556,217,700 - 56,265,402 (+)NCBINCBI36Build 36hg18NCBI36
Build 341556,217,770 - 56,265,401NCBI
Celera1535,319,964 - 35,368,212 (+)NCBICelera
Cytogenetic Map15q21.3NCBI
HuRef1535,253,376 - 35,301,102 (+)NCBIHuRef
CHM1_11558,548,384 - 58,596,089 (+)NCBICHM1_1
T2T-CHM13v2.01555,940,466 - 55,988,212 (+)NCBIT2T-CHM13v2.0
Aqp9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39971,017,941 - 71,075,170 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl971,017,941 - 71,075,964 (-)EnsemblGRCm39 Ensembl
GRCm38971,110,659 - 71,167,849 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl971,110,659 - 71,168,682 (-)EnsemblGRCm38mm10GRCm38
MGSCv37970,958,468 - 71,011,096 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36970,909,221 - 70,961,849 (-)NCBIMGSCv36mm8
Celera968,318,271 - 68,366,608 (-)NCBICelera
Cytogenetic Map9DNCBI
cM Map939.85NCBI
Aqp9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8880,678,027 - 80,718,273 (-)NCBIGRCr8
mRatBN7.2871,797,231 - 71,837,485 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl871,797,234 - 71,837,395 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx877,331,526 - 77,371,805 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0875,604,495 - 75,644,778 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0873,441,536 - 73,481,821 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0877,559,621 - 77,599,781 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl877,559,624 - 77,599,781 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0875,483,006 - 75,523,423 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4875,611,485 - 75,651,646 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1875,630,541 - 75,670,700 (-)NCBI
Celera869,899,442 - 69,939,523 (+)NCBICelera
Cytogenetic Map8q24NCBI
Aqp9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545016,253,571 - 16,302,657 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545016,253,706 - 16,346,602 (-)NCBIChiLan1.0ChiLan1.0
AQP9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21647,401,033 - 47,449,700 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11551,583,319 - 51,631,999 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01537,107,061 - 37,154,887 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11555,418,767 - 55,466,541 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1555,418,767 - 55,466,541 (+)Ensemblpanpan1.1panPan2
AQP9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13023,223,413 - 23,271,893 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3023,225,331 - 23,269,076 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3023,195,554 - 23,244,048 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03023,381,591 - 23,430,109 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3023,383,410 - 23,429,056 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13023,314,125 - 23,361,613 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03023,398,650 - 23,446,048 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03023,540,476 - 23,589,012 (+)NCBIUU_Cfam_GSD_1.0
Aqp9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640101,473,023 - 101,514,878 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647119,321,426 - 19,362,146 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647119,321,366 - 19,361,227 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AQP9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1113,794,040 - 113,848,683 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11113,798,380 - 113,848,452 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21125,897,935 - 125,959,201 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AQP9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12625,326,108 - 25,374,743 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2625,326,087 - 25,373,336 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048115,941,107 - 115,988,513 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aqp9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478113,648,065 - 13,691,260 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478113,650,612 - 13,691,175 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AQP9
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1 copy number loss See cases [RCV000050884] Chr15:57456076..61907285 [GRCh38]
Chr15:57748274..62199484 [GRCh37]
Chr15:55535566..59986776 [NCBI36]
Chr15:15q21.3-22.2
pathogenic
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2
pathogenic
GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1 copy number loss See cases [RCV000051622] Chr15:57567950..63019415 [GRCh38]
Chr15:57860148..63311614 [GRCh37]
Chr15:55647440..61098667 [NCBI36]
Chr15:15q21.3-22.2
pathogenic
GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1 copy number loss See cases [RCV000446622] Chr15:54713558..62769295 [GRCh37]
Chr15:15q21.3-22.2
pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q21.3(chr15:57518653-58974175)x3 copy number gain See cases [RCV000511567] Chr15:57518653..58974175 [GRCh37]
Chr15:15q21.3
likely pathogenic
GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1 copy number loss See cases [RCV000510898] Chr15:58088503..62221756 [GRCh37]
Chr15:15q21.3-22.2
pathogenic
NM_020980.5(AQP9):c.829T>C (p.Phe277Leu) single nucleotide variant not specified [RCV004305866] Chr15:58184076 [GRCh38]
Chr15:58476275 [GRCh37]
Chr15:15q21.3
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q21.3-22.2(chr15:58441151-60270526)x3 copy number gain not provided [RCV000683699] Chr15:58441151..60270526 [GRCh37]
Chr15:15q21.3-22.2
uncertain significance
GRCh37/hg19 15q21.3(chr15:57608623-59029582)x3 copy number gain not provided [RCV000683698] Chr15:57608623..59029582 [GRCh37]
Chr15:15q21.3
uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 copy number gain not provided [RCV000845891] Chr15:48000433..60747551 [GRCh37]
Chr15:15q21.1-22.2
pathogenic
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3 copy number gain not provided [RCV002472512] Chr15:48589845..63543438 [GRCh37]
Chr15:15q21.1-22.2
pathogenic
GRCh37/hg19 15q21.3(chr15:57414627-58960510)x3 copy number gain not provided [RCV001259696] Chr15:57414627..58960510 [GRCh37]
Chr15:15q21.3
uncertain significance
GRCh37/hg19 15q21.3(chr15:58461372-58897874)x3 copy number gain not provided [RCV001259698] Chr15:58461372..58897874 [GRCh37]
Chr15:15q21.3
uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_020980.5(AQP9):c.158G>A (p.Arg53His) single nucleotide variant not specified [RCV004194477] Chr15:58166719 [GRCh38]
Chr15:58458918 [GRCh37]
Chr15:15q21.3
likely benign
NM_020980.5(AQP9):c.415G>A (p.Val139Met) single nucleotide variant not specified [RCV004147995] Chr15:58174956 [GRCh38]
Chr15:58467155 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.457G>A (p.Ala153Thr) single nucleotide variant not specified [RCV004138876] Chr15:58174998 [GRCh38]
Chr15:58467197 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.764C>T (p.Ala255Val) single nucleotide variant not specified [RCV004155514] Chr15:58184011 [GRCh38]
Chr15:58476210 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.455C>G (p.Pro152Arg) single nucleotide variant not specified [RCV004085433] Chr15:58174996 [GRCh38]
Chr15:58467195 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.604G>A (p.Val202Ile) single nucleotide variant not specified [RCV004210925] Chr15:58179236 [GRCh38]
Chr15:58471435 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.77C>A (p.Thr26Asn) single nucleotide variant not specified [RCV004224691] Chr15:58138642 [GRCh38]
Chr15:58430841 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.229G>T (p.Gly77Cys) single nucleotide variant not specified [RCV004112365] Chr15:58166790 [GRCh38]
Chr15:58458989 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.476C>T (p.Ala159Val) single nucleotide variant not specified [RCV004225315] Chr15:58175017 [GRCh38]
Chr15:58467216 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.587T>C (p.Ile196Thr) single nucleotide variant not specified [RCV004276545] Chr15:58179219 [GRCh38]
Chr15:58471418 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.587T>G (p.Ile196Ser) single nucleotide variant not specified [RCV004336131] Chr15:58179219 [GRCh38]
Chr15:58471418 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.626T>G (p.Leu209Arg) single nucleotide variant not specified [RCV004365313] Chr15:58179258 [GRCh38]
Chr15:58471457 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.357C>T (p.Thr119=) single nucleotide variant not provided [RCV003394877] Chr15:58173186 [GRCh38]
Chr15:58465385 [GRCh37]
Chr15:15q21.3
likely benign
NM_020980.5(AQP9):c.296G>T (p.Trp99Leu) single nucleotide variant not specified [RCV004420059] Chr15:58173125 [GRCh38]
Chr15:58465324 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.555G>T (p.Leu185Phe) single nucleotide variant not specified [RCV004420061] Chr15:58179187 [GRCh38]
Chr15:58471386 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.770T>C (p.Ile257Thr) single nucleotide variant not specified [RCV004664843] Chr15:58184017 [GRCh38]
Chr15:58476216 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.461C>T (p.Pro154Leu) single nucleotide variant not specified [RCV004664826] Chr15:58175002 [GRCh38]
Chr15:58467201 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.377A>G (p.Asp126Gly) single nucleotide variant not specified [RCV004656133] Chr15:58174918 [GRCh38]
Chr15:58467117 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.149G>T (p.Ser50Ile) single nucleotide variant not specified [RCV004664833] Chr15:58166710 [GRCh38]
Chr15:58458909 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.871C>T (p.Leu291Phe) single nucleotide variant not specified [RCV004420062] Chr15:58184118 [GRCh38]
Chr15:58476317 [GRCh37]
Chr15:15q21.3
uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1 copy number loss not provided [RCV003483234] Chr15:54020810..62086530 [GRCh37]
Chr15:15q21.3-22.2
pathogenic
NM_020980.5(AQP9):c.214A>G (p.Ile72Val) single nucleotide variant not specified [RCV004420058] Chr15:58166775 [GRCh38]
Chr15:58458974 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_020980.5(AQP9):c.358G>A (p.Val120Ile) single nucleotide variant not specified [RCV004420060] Chr15:58173187 [GRCh38]
Chr15:58465386 [GRCh37]
Chr15:15q21.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2218
Count of miRNA genes:602
Interacting mature miRNAs:670
Transcripts:ENST00000219919, ENST00000536493, ENST00000558772, ENST00000559443
Prediction methods:Microtar, 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
407073255GWAS722231_Hlevel of Phosphatidylethanolamine (16:0_20:4) in blood serum QTL GWAS722231 (human)5e-16level of Phosphatidylethanolamine (16:0_20:4) in blood serum155814916758149168Human
407397441GWAS1046417_Hhigh density lipoprotein cholesterol measurement QTL GWAS1046417 (human)1e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)155815608858156089Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human
406905965GWAS554941_Hdimethylglycine measurement QTL GWAS554941 (human)5e-12dimethylglycine measurement155814497158144972Human
406996525GWAS645501_Hcoronary artery calcification QTL GWAS645501 (human)3e-27coronary artery calcification155817978058179781Human
407073265GWAS722241_Hlevel of Phosphatidylethanolamine (18:0_18:2) in blood serum QTL GWAS722241 (human)1e-13level of Phosphatidylethanolamine (18:0_18:2) in blood serum155814916758149168Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
407214512GWAS863488_Hglycine measurement QTL GWAS863488 (human)3e-09glycine measurementblood amino acid measurement (CMO:0003730)155817489658174897Human
407073045GWAS722021_Hlevel of Phosphatidylethanolamine (16:0_18:2) in blood serum QTL GWAS722021 (human)4e-09level of Phosphatidylethanolamine (16:0_18:2) in blood serum155814916758149168Human
407114173GWAS763149_Hglycine measurement QTL GWAS763149 (human)7e-12glycine measurementblood amino acid measurement (CMO:0003730)155814218958142190Human
407399569GWAS1048545_Hlow density lipoprotein cholesterol measurement QTL GWAS1048545 (human)1e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)155815608858156089Human
407308316GWAS957292_Hglycine measurement QTL GWAS957292 (human)2e-15glycine measurementblood amino acid measurement (CMO:0003730)155813856458138565Human
407277083GWAS926059_Hbody height QTL GWAS926059 (human)2e-17body height (VT:0001253)body height (CMO:0000106)155817579358175794Human

Markers in Region
D15S198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,471,604 - 58,471,809UniSTSGRCh37
Build 361556,258,896 - 56,259,101RGDNCBI36
Celera1535,361,703 - 35,361,912RGD
Cytogenetic Map15qUniSTS
HuRef1535,294,591 - 35,294,800UniSTS
Marshfield Genetic Map1551.21RGD
Marshfield Genetic Map1551.21UniSTS
Genethon Genetic Map1550.8UniSTS
deCODE Assembly Map1556.46UniSTS
GeneMap99-GB4 RH Map15209.78UniSTS
Whitehead-RH Map15189.5UniSTS
Whitehead-YAC Contig Map15 UniSTS
RH98507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,477,871 - 58,478,058UniSTSGRCh37
Build 361556,265,163 - 56,265,350RGDNCBI36
Celera1535,367,973 - 35,368,160RGD
Cytogenetic Map15qUniSTS
HuRef1535,300,863 - 35,301,050UniSTS
GeneMap99-GB4 RH Map15206.95UniSTS
SHGC-2193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,471,660 - 58,471,767UniSTSGRCh37
Build 361556,258,952 - 56,259,059RGDNCBI36
Celera1535,361,759 - 35,361,870RGD
Cytogenetic Map15qUniSTS
HuRef1535,294,647 - 35,294,758UniSTS
RH119218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,464,769 - 58,465,085UniSTSGRCh37
Build 361556,252,061 - 56,252,377RGDNCBI36
Celera1535,354,873 - 35,355,189RGD
Cytogenetic Map15qUniSTS
HuRef1535,287,762 - 35,288,078UniSTS
TNG Radiation Hybrid Map1520251.0UniSTS
SHGC-150628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,471,543 - 58,471,822UniSTSGRCh37
Build 361556,258,835 - 56,259,114RGDNCBI36
Celera1535,361,642 - 35,361,925RGD
Cytogenetic Map15qUniSTS
HuRef1535,294,530 - 35,294,813UniSTS
TNG Radiation Hybrid Map1520254.0UniSTS
ATC-P10583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,463,980 - 58,464,145UniSTSGRCh37
Build 361556,251,272 - 56,251,437RGDNCBI36
Celera1535,354,084 - 35,354,249RGD
Cytogenetic Map15qUniSTS
HuRef1535,286,973 - 35,287,138UniSTS
Whitehead-YAC Contig Map15 UniSTS
PMC61180P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,430,489 - 58,430,835UniSTSGRCh37
Build 361556,217,781 - 56,218,127RGDNCBI36
Celera1535,320,045 - 35,320,391RGD
Cytogenetic Map15qUniSTS
HuRef1535,253,457 - 35,253,803UniSTS
AQP9_51  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,477,376 - 58,478,127UniSTSGRCh37
Build 361556,264,668 - 56,265,419RGDNCBI36
Celera1535,367,478 - 35,368,229RGD
HuRef1535,300,368 - 35,301,119UniSTS
D15S1283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,475,665 - 58,475,814UniSTSGRCh37
Build 361556,262,957 - 56,263,106RGDNCBI36
Celera1535,365,768 - 35,365,917RGD
Cytogenetic Map15qUniSTS
HuRef1535,298,656 - 35,298,805UniSTS
RH1645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371558,475,665 - 58,475,883UniSTSGRCh37
Build 361556,262,957 - 56,263,175RGDNCBI36
Celera1535,365,768 - 35,365,986RGD
Cytogenetic Map15qUniSTS
HuRef1535,298,656 - 35,298,874UniSTS
GeneMap99-GB4 RH Map15213.81UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB008775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC066616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF016495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF102870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE042553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB528930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC296768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC410284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC250945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC311134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000219919   ⟹   ENSP00000219919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,138,381 - 58,185,911 (+)Ensembl
Ensembl Acc Id: ENST00000536493   ⟹   ENSP00000441390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,138,381 - 58,185,911 (+)Ensembl
Ensembl Acc Id: ENST00000558772   ⟹   ENSP00000452673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,138,169 - 58,184,579 (+)Ensembl
Ensembl Acc Id: ENST00000559443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1558,138,263 - 58,146,895 (+)Ensembl
RefSeq Acc Id: NM_001320635   ⟹   NP_001307564
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381558,138,381 - 58,185,911 (+)NCBI
CHM1_11558,548,371 - 58,596,089 (+)NCBI
T2T-CHM13v2.01555,940,678 - 55,988,212 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320636   ⟹   NP_001307565
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381558,138,169 - 58,185,911 (+)NCBI
CHM1_11558,548,344 - 58,596,089 (+)NCBI
T2T-CHM13v2.01555,940,466 - 55,988,212 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020980   ⟹   NP_066190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381558,138,381 - 58,185,911 (+)NCBI
GRCh371558,430,374 - 58,478,110 (+)NCBI
Build 361556,217,700 - 56,265,402 (+)NCBI Archive
HuRef1535,253,376 - 35,301,102 (+)ENTREZGENE
CHM1_11558,548,371 - 58,596,086 (+)NCBI
T2T-CHM13v2.01555,940,678 - 55,988,212 (+)NCBI
Sequence:
RefSeq Acc Id: NP_066190   ⟸   NM_020980
- Peptide Label: isoform 1
- UniProtKB: Q9NP32 (UniProtKB/Swiss-Prot),   O43315 (UniProtKB/Swiss-Prot),   Q6FGT0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307565   ⟸   NM_001320636
- Peptide Label: isoform 3
- UniProtKB: H0YK62 (UniProtKB/TrEMBL),   B4DT52 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307564   ⟸   NM_001320635
- Peptide Label: isoform 2
- Sequence:
Ensembl Acc Id: ENSP00000452673   ⟸   ENST00000558772
Ensembl Acc Id: ENSP00000219919   ⟸   ENST00000219919
Ensembl Acc Id: ENSP00000441390   ⟸   ENST00000536493

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43315-F1-model_v2 AlphaFold O43315 1-295 view protein structure

Promoters
RGD ID:7229651
Promoter ID:EPDNEW_H20571
Type:initiation region
Name:AQP9_1
Description:aquaporin 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20572  EPDNEW_H20573  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381558,138,196 - 58,138,256EPDNEW
RGD ID:7229653
Promoter ID:EPDNEW_H20572
Type:initiation region
Name:AQP9_2
Description:aquaporin 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20571  EPDNEW_H20573  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381558,138,381 - 58,138,441EPDNEW
RGD ID:7229655
Promoter ID:EPDNEW_H20573
Type:initiation region
Name:AQP9_3
Description:aquaporin 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20571  EPDNEW_H20572  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381558,138,487 - 58,138,547EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:643 AgrOrtholog
COSMIC AQP9 COSMIC
Ensembl Genes ENSG00000103569 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000219919 ENTREZGENE
  ENST00000219919.9 UniProtKB/Swiss-Prot
  ENST00000558772 ENTREZGENE
  ENST00000558772.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1080.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103569 GTEx
HGNC ID HGNC:643 ENTREZGENE
Human Proteome Map AQP9 Human Proteome Map
InterPro Aquaporin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aquaporin_9 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:366 UniProtKB/Swiss-Prot
NCBI Gene 366 ENTREZGENE
OMIM 602914 OMIM
PANTHER AQUAPORIN OR AQUAGLYCEROPORIN RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43829:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24927 PharmGKB
PRINTS AQUAPORIN9 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 AQP9_HUMAN UniProtKB/Swiss-Prot
  B4DT52 ENTREZGENE, UniProtKB/TrEMBL
  H0YK62 ENTREZGENE, UniProtKB/TrEMBL
  O43315 ENTREZGENE
  Q6FGT0 ENTREZGENE, UniProtKB/TrEMBL
  Q9NP32 ENTREZGENE
UniProt Secondary Q9NP32 UniProtKB/Swiss-Prot