AQP5 (aquaporin 5) - Rat Genome Database

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Gene: AQP5 (aquaporin 5) Homo sapiens
Analyze
Symbol: AQP5
Name: aquaporin 5
RGD ID: 70371
HGNC Page HGNC:638
Description: Enables identical protein binding activity and water channel activity. Involved in several processes, including cellular hypotonic response; pancreatic juice secretion; and protein homotetramerization. Located in apical plasma membrane and cytoplasmic vesicle membrane. Implicated in Bothnian type palmoplantar keratoderma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AQP-5; aquaporin-5; PPKB
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
GRCh381249,961,872 - 49,965,682 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1249,961,872 - 49,965,682 (+)EnsemblGRCh38hg38GRCh38
GRCh371250,355,655 - 50,359,465 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361248,641,546 - 48,645,227 (+)NCBINCBI36Build 36hg18NCBI36
Build 341248,641,545 - 48,645,227NCBI
Celera1249,151,383 - 49,155,562 (+)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1247,386,849 - 47,390,948 (+)NCBIHuRef
CHM1_11250,321,440 - 50,325,624 (+)NCBICHM1_1
T2T-CHM13v2.01249,924,863 - 49,928,671 (+)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
(+)-pilocarpine  (ISO)
(S)-naringenin  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
3',5'-cyclic AMP  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amoxicillin  (ISO)
amphotericin B  (EXP)
atropine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
calcitriol  (EXP)
carbachol  (EXP)
chloroquine  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cordycepin  (EXP)
D-glucose  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
folic acid  (ISO)
fosfomycin  (ISO)
fructose  (ISO)
furan  (ISO)
genistein  (ISO)
glucose  (ISO)
glycyrrhizinic acid  (EXP)
herbicide  (ISO)
histamine  (EXP)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
methimazole  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
naringin  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
paraquat  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
protein kinase inhibitor  (ISO)
quercetin  (ISO)
rac-lactic acid  (EXP)
roflumilast  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
terbutaline  (ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thiourea  (ISO)
titanium dioxide  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Aquaporins in the kidney. Kwon TH, etal., Handb Exp Pharmacol. 2009;(190):95-132. doi: 10.1007/978-3-540-79885-9_5.
3. Functional requirement of aquaporin-5 in plasma membranes of sweat glands. Nejsum LN, etal., Proc Natl Acad Sci U S A 2002 Jan 8;99(1):511-516.
4. Functional requirement of aquaporin-5 in plasma membranes of sweat glands. Nejsum LN, etal., Proc Natl Acad Sci U S A 2002 Jan 8;99(1):511-6.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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.
11. miR-96 and miR-330 overexpressed and targeted AQP5 in lipopolysaccharide-induced rat lung damage of disseminated intravascular coagulation. Zhang Y, etal., Blood Coagul Fibrinolysis. 2014 Oct;25(7):731-7. doi: 10.1097/MBC.0000000000000133.
Additional References at PubMed
PMID:1373524   PMID:1510932   PMID:7530250   PMID:8621489   PMID:9268644   PMID:9369468   PMID:9405233   PMID:9806845   PMID:9829975   PMID:10318966   PMID:10476940   PMID:10510269  
PMID:10564231   PMID:11001937   PMID:11034202   PMID:11076974   PMID:11245621   PMID:11408278   PMID:11573934   PMID:12084581   PMID:12477932   PMID:12522663   PMID:12565800   PMID:12801959  
PMID:14701836   PMID:15342556   PMID:15489334   PMID:15948717   PMID:16189514   PMID:16341674   PMID:16500622   PMID:16537379   PMID:16596446   PMID:17043812   PMID:17178220   PMID:17553491  
PMID:17640479   PMID:18042467   PMID:18202181   PMID:18215141   PMID:18280225   PMID:18305162   PMID:18449356   PMID:18478076   PMID:18501347   PMID:18511455   PMID:18583321   PMID:18612408  
PMID:18762715   PMID:18768791   PMID:18846354   PMID:18853286   PMID:19060904   PMID:19166033   PMID:19199708   PMID:19273840   PMID:19340551   PMID:19652646   PMID:19664333   PMID:20106632  
PMID:20360993   PMID:20362698   PMID:20669661   PMID:20806077   PMID:21151978   PMID:21244858   PMID:21251364   PMID:21251984   PMID:21315850   PMID:21427539   PMID:21455588   PMID:21516116  
PMID:21524183   PMID:21873635   PMID:21950762   PMID:21973049   PMID:21988832   PMID:22048942   PMID:22145049   PMID:22470085   PMID:22472942   PMID:22576684   PMID:22715407   PMID:22732097  
PMID:23160677   PMID:23176748   PMID:23203809   PMID:23313152   PMID:23326416   PMID:23352976   PMID:23382834   PMID:23392848   PMID:23436048   PMID:23473857   PMID:23797770   PMID:23830519  
PMID:23842530   PMID:23867895   PMID:24114055   PMID:24217644   PMID:24224160   PMID:24752576   PMID:25109507   PMID:25217331   PMID:25218052   PMID:25298246   PMID:25416956   PMID:25631586  
PMID:25721378   PMID:25781725   PMID:25877715   PMID:25878490   PMID:26032342   PMID:26074259   PMID:26299924   PMID:26375433   PMID:26569106   PMID:26614400   PMID:26823734   PMID:27058007  
PMID:27103565   PMID:27255181   PMID:27497833   PMID:27517516   PMID:27835672   PMID:27871297   PMID:27978515   PMID:28088675   PMID:28246612   PMID:28358429   PMID:28404978   PMID:28455098  
PMID:28594978   PMID:28619511   PMID:28680052   PMID:28766180   PMID:28833571   PMID:28958942   PMID:29279852   PMID:29322789   PMID:29390193   PMID:29799470   PMID:29925705   PMID:29951954  
PMID:30072015   PMID:30221495   PMID:30517197   PMID:30689610   PMID:31377226   PMID:31773315   PMID:31811204   PMID:31867018   PMID:31884335   PMID:32025032   PMID:32053992   PMID:32272738  
PMID:32714076   PMID:32826239   PMID:32901888   PMID:32965322   PMID:33031138   PMID:33542263   PMID:33740392   PMID:33760167   PMID:33961781   PMID:34331360   PMID:34440877   PMID:34455107  
PMID:34502121   PMID:34948259   PMID:35455986   PMID:36177915   PMID:36232935   PMID:36233114   PMID:36295616   PMID:36372898   PMID:36468842   PMID:36621535   PMID:36645858   PMID:36706090  
PMID:36766810   PMID:38047298   PMID:38527693  


Genomics

Comparative Map Data
AQP5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381249,961,872 - 49,965,682 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1249,961,872 - 49,965,682 (+)EnsemblGRCh38hg38GRCh38
GRCh371250,355,655 - 50,359,465 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361248,641,546 - 48,645,227 (+)NCBINCBI36Build 36hg18NCBI36
Build 341248,641,545 - 48,645,227NCBI
Celera1249,151,383 - 49,155,562 (+)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1247,386,849 - 47,390,948 (+)NCBIHuRef
CHM1_11250,321,440 - 50,325,624 (+)NCBICHM1_1
T2T-CHM13v2.01249,924,863 - 49,928,671 (+)NCBIT2T-CHM13v2.0
Aqp5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391599,488,909 - 99,492,710 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1599,488,663 - 99,492,710 (+)EnsemblGRCm39 Ensembl
GRCm381599,591,028 - 99,594,829 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1599,590,782 - 99,594,829 (+)EnsemblGRCm38mm10GRCm38
MGSCv371599,421,459 - 99,425,260 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361599,418,814 - 99,422,856 (+)NCBIMGSCv36mm8
Celera15101,746,743 - 101,750,221 (+)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1556.13NCBI
Aqp5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87132,601,528 - 132,605,060 (+)NCBIGRCr8
mRatBN7.27130,722,675 - 130,726,207 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7130,721,748 - 130,726,209 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7132,526,264 - 132,529,796 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07134,751,843 - 134,755,375 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07134,664,370 - 134,667,902 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07141,249,044 - 141,252,576 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7141,249,044 - 141,252,578 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X115,753,747 - 115,757,279 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47138,337,725 - 138,341,257 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17138,414,167 - 138,417,694 (+)NCBI
Celera7127,204,033 - 127,207,565 (+)NCBICelera
Cytogenetic Map7q36NCBI
Aqp5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955547558,927 - 564,376 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955547558,296 - 562,455 (+)NCBIChiLan1.0ChiLan1.0
AQP5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21044,223,016 - 44,226,823 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11244,219,778 - 44,223,584 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01238,789,505 - 38,793,305 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11239,683,503 - 39,687,772 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1239,684,008 - 39,687,127 (-)Ensemblpanpan1.1panPan2
AQP5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1274,735,313 - 4,742,975 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl274,735,538 - 4,737,650 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2741,517,676 - 41,521,418 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0274,785,875 - 4,789,618 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1274,750,857 - 4,754,598 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0274,740,684 - 4,744,421 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02741,912,308 - 41,916,050 (+)NCBIUU_Cfam_GSD_1.0
Aqp5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494565,521,588 - 65,525,295 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365127,639,668 - 7,642,756 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365127,639,518 - 7,643,242 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AQP5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl515,876,407 - 15,880,067 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1515,876,527 - 15,879,608 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2516,079,774 - 16,082,855 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AQP5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11146,190,504 - 46,195,461 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037199,926,134 - 199,930,017 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aqp5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248162,326,010 - 2,329,544 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248162,326,059 - 2,329,525 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AQP5
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3 copy number gain See cases [RCV000051958] Chr12:49840075..50315208 [GRCh38]
Chr12:50233858..50708991 [GRCh37]
Chr12:48520125..48995258 [NCBI36]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.113C>A (p.Ala38Glu) single nucleotide variant Palmoplantar keratoderma, Bothnian type [RCV000055668]|not provided [RCV003556140] Chr12:49962130 [GRCh38]
Chr12:50355913 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_001651.4(AQP5):c.562C>T (p.Arg188Cys) single nucleotide variant Palmoplantar keratoderma, Bothnian type [RCV000055669]|not provided [RCV002513727] Chr12:49964125 [GRCh38]
Chr12:50357908 [GRCh37]
Chr12:12q13.12		 pathogenic|uncertain significance
NM_001651.4(AQP5):c.134T>G (p.Ile45Ser) single nucleotide variant Palmoplantar keratoderma, Bothnian type [RCV000055670] Chr12:49962151 [GRCh38]
Chr12:50355934 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_001651.4(AQP5):c.529A>T (p.Ile177Phe) single nucleotide variant Palmoplantar keratoderma, Bothnian type [RCV000055671] Chr12:49964092 [GRCh38]
Chr12:50357875 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_001651.4(AQP5):c.367A>G (p.Asn123Asp) single nucleotide variant Palmoplantar keratoderma, Bothnian type [RCV000055672] Chr12:49963495 [GRCh38]
Chr12:50357278 [GRCh37]
Chr12:12q13.12		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q13.12(chr12:50347938-50355812)x1 copy number loss not provided [RCV000737874] Chr12:50347938..50355812 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50347938-50355834)x0 copy number loss not provided [RCV000737875] Chr12:50347938..50355834 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50348078-50355756)x0 copy number loss not provided [RCV000737876] Chr12:50348078..50355756 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50348078-50355812)x1 copy number loss not provided [RCV000737877] Chr12:50348078..50355812 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50355278-50355756)x0 copy number loss not provided [RCV000737878] Chr12:50355278..50355756 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50355278-50355812)x1 copy number loss not provided [RCV000737879] Chr12:50355278..50355812 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50355278-50355834)x0 copy number loss not provided [RCV000737880] Chr12:50355278..50355834 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50344955-50355812)x1 copy number loss not provided [RCV000750400] Chr12:50344955..50355812 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50344955-50355834)x1 copy number loss not provided [RCV000750401] Chr12:50344955..50355834 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50344955-50358054)x1 copy number loss not provided [RCV000750402] Chr12:50344955..50358054 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50344976-50355665)x1 copy number loss not provided [RCV000750403] Chr12:50344976..50355665 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50344976-50355834)x1 copy number loss not provided [RCV000750404] Chr12:50344976..50355834 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.12(chr12:50347938-50355665)x1 copy number loss not provided [RCV000750405] Chr12:50347938..50355665 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.526G>A (p.Gly176Arg) single nucleotide variant Palmoplantar keratoderma, Bothnian type [RCV001647329] Chr12:49963654 [GRCh38]
Chr12:50357437 [GRCh37]
Chr12:12q13.12		 likely pathogenic
NM_001651.4(AQP5):c.612+96A>G single nucleotide variant not provided [RCV001690147] Chr12:49964271 [GRCh38]
Chr12:50358054 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.767G>A (p.Arg256Gln) single nucleotide variant not provided [RCV000905805] Chr12:49965146 [GRCh38]
Chr12:50358929 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.363+6T>G single nucleotide variant not provided [RCV000906671] Chr12:49962386 [GRCh38]
Chr12:50356169 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.739G>A (p.Glu247Lys) single nucleotide variant not provided [RCV000881371] Chr12:49965118 [GRCh38]
Chr12:50358901 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.363+14G>A single nucleotide variant not provided [RCV001595749] Chr12:49962394 [GRCh38]
Chr12:50356177 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.499C>T (p.Leu167=) single nucleotide variant not provided [RCV000911310] Chr12:49963627 [GRCh38]
Chr12:50357410 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.612+216C>A single nucleotide variant not provided [RCV001608606] Chr12:49964391 [GRCh38]
Chr12:50358174 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.612+115C>G single nucleotide variant not provided [RCV001648791] Chr12:49964290 [GRCh38]
Chr12:50358073 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.613-231T>C single nucleotide variant not provided [RCV001695428] Chr12:49964761 [GRCh38]
Chr12:50358544 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.613-307A>G single nucleotide variant not provided [RCV001670422] Chr12:49964685 [GRCh38]
Chr12:50358468 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.*288C>T single nucleotide variant not provided [RCV001709830] Chr12:49965465 [GRCh38]
Chr12:50359248 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.363+19_363+21del deletion not provided [RCV001696499] Chr12:49962392..49962394 [GRCh38]
Chr12:50356175..50356177 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.88G>A (p.Gly30Ser) single nucleotide variant not provided [RCV001355639] Chr12:49962105 [GRCh38]
Chr12:50355888 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.704G>A (p.Arg235His) single nucleotide variant not provided [RCV001874549]|not specified [RCV004040455] Chr12:49965083 [GRCh38]
Chr12:50358866 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.369C>A (p.Asn123Lys) single nucleotide variant not provided [RCV001895376] Chr12:49963497 [GRCh38]
Chr12:50357280 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.464C>T (p.Thr155Ile) single nucleotide variant not provided [RCV001891083] Chr12:49963592 [GRCh38]
Chr12:50357375 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.533A>G (p.Tyr178Cys) single nucleotide variant not provided [RCV002016810] Chr12:49964096 [GRCh38]
Chr12:50357879 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.335A>G (p.Asn112Ser) single nucleotide variant not provided [RCV001973679] Chr12:49962352 [GRCh38]
Chr12:50356135 [GRCh37]
Chr12:12q13.12		 uncertain significance
NC_000012.11:g.(?_50348473)_(50357918_?)del deletion not provided [RCV001939642] Chr12:50348473..50357918 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_001651.4(AQP5):c.363+21del deletion not provided [RCV002088291] Chr12:49962392 [GRCh38]
Chr12:50356175 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.726G>A (p.Thr242=) single nucleotide variant not provided [RCV002212337] Chr12:49965105 [GRCh38]
Chr12:50358888 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.364-15G>C single nucleotide variant not provided [RCV002101937] Chr12:49963477 [GRCh38]
Chr12:50357260 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.4AAG[1] (p.Lys3del) microsatellite AQP5-related disorder [RCV003978855]|not provided [RCV002143745] Chr12:49962020..49962022 [GRCh38]
Chr12:50355803..50355805 [GRCh37]
Chr12:12q13.12		 likely benign
NM_001651.4(AQP5):c.363+21dup duplication not provided [RCV002122922] Chr12:49962391..49962392 [GRCh38]
Chr12:50356174..50356175 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.766C>T (p.Arg256Trp) single nucleotide variant not provided [RCV003122081] Chr12:49965145 [GRCh38]
Chr12:50358928 [GRCh37]
Chr12:12q13.12		 uncertain significance
GRCh37/hg19 12q13.12(chr12:50331947-50439383)x3 copy number gain not provided [RCV002291539] Chr12:50331947..50439383 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.542G>T (p.Gly181Val) single nucleotide variant not specified [RCV004142002] Chr12:49964105 [GRCh38]
Chr12:50357888 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.794G>A (p.Arg265His) single nucleotide variant not specified [RCV004238221] Chr12:49965173 [GRCh38]
Chr12:50358956 [GRCh37]
Chr12:12q13.12		 likely benign
NM_001651.4(AQP5):c.742G>A (p.Asp248Asn) single nucleotide variant not specified [RCV004119390] Chr12:49965121 [GRCh38]
Chr12:50358904 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.257G>A (p.Arg86Gln) single nucleotide variant not specified [RCV004172245] Chr12:49962274 [GRCh38]
Chr12:50356057 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.634G>A (p.Val212Met) single nucleotide variant not provided [RCV002886505] Chr12:49965013 [GRCh38]
Chr12:50358796 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.256C>T (p.Arg86Trp) single nucleotide variant not specified [RCV004090151] Chr12:49962273 [GRCh38]
Chr12:50356056 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.592C>T (p.Arg198Trp) single nucleotide variant not provided [RCV003730347]|not specified [RCV004209472] Chr12:49964155 [GRCh38]
Chr12:50357938 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.363+18_363+21del deletion not provided [RCV002790055] Chr12:49962392..49962395 [GRCh38]
Chr12:50356175..50356178 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.722G>T (p.Gly241Val) single nucleotide variant not provided [RCV002825708] Chr12:49965101 [GRCh38]
Chr12:50358884 [GRCh37]
Chr12:12q13.12		 likely benign
NM_001651.4(AQP5):c.592C>G (p.Arg198Gly) single nucleotide variant not specified [RCV004128240] Chr12:49964155 [GRCh38]
Chr12:50357938 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.730G>A (p.Glu244Lys) single nucleotide variant not specified [RCV004156767] Chr12:49965109 [GRCh38]
Chr12:50358892 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.380C>T (p.Thr127Met) single nucleotide variant not provided [RCV003063412] Chr12:49963508 [GRCh38]
Chr12:50357291 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.641C>T (p.Ala214Val) single nucleotide variant not specified [RCV004172502] Chr12:49965020 [GRCh38]
Chr12:50358803 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.355G>A (p.Val119Ile) single nucleotide variant not specified [RCV004351374] Chr12:49962372 [GRCh38]
Chr12:50356155 [GRCh37]
Chr12:12q13.12		 likely benign
NM_001651.4(AQP5):c.363+20_363+21dup duplication not provided [RCV003726752] Chr12:49962391..49962392 [GRCh38]
Chr12:50356174..50356175 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.193G>A (p.Gly65Ser) single nucleotide variant not provided [RCV003561435] Chr12:49962210 [GRCh38]
Chr12:50355993 [GRCh37]
Chr12:12q13.12		 likely benign
NM_001651.4(AQP5):c.528+13G>A single nucleotide variant not provided [RCV003811225] Chr12:49963669 [GRCh38]
Chr12:50357452 [GRCh37]
Chr12:12q13.12		 likely benign
NM_001651.4(AQP5):c.578C>T (p.Ala193Val) single nucleotide variant not provided [RCV003548310] Chr12:49964141 [GRCh38]
Chr12:50357924 [GRCh37]
Chr12:12q13.12		 likely benign
NM_001651.4(AQP5):c.460C>T (p.Arg154Cys) single nucleotide variant AQP5-related disorder [RCV003939850] Chr12:49963588 [GRCh38]
Chr12:50357371 [GRCh37]
Chr12:12q13.12		 likely benign
NM_001651.4(AQP5):c.33C>A (p.Leu11=) single nucleotide variant not provided [RCV003867895] Chr12:49962050 [GRCh38]
Chr12:50355833 [GRCh37]
Chr12:12q13.12		 likely benign
NM_001651.4(AQP5):c.525C>T (p.Val175=) single nucleotide variant not provided [RCV003564587] Chr12:49963653 [GRCh38]
Chr12:50357436 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.603C>T (p.Pro201=) single nucleotide variant not provided [RCV003567516] Chr12:49964166 [GRCh38]
Chr12:50357949 [GRCh37]
Chr12:12q13.12		 benign
NM_001651.4(AQP5):c.381G>A (p.Thr127=) single nucleotide variant not provided [RCV003731261] Chr12:49963509 [GRCh38]
Chr12:50357292 [GRCh37]
Chr12:12q13.12		 likely benign
NM_001651.4(AQP5):c.329C>T (p.Pro110Leu) single nucleotide variant not provided [RCV003884186] Chr12:49962346 [GRCh38]
Chr12:50356129 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.73G>A (p.Val25Ile) single nucleotide variant not specified [RCV004420047] Chr12:49962090 [GRCh38]
Chr12:50355873 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.485C>T (p.Ala162Val) single nucleotide variant not specified [RCV004420043] Chr12:49963613 [GRCh38]
Chr12:50357396 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.532T>C (p.Tyr178His) single nucleotide variant not specified [RCV004420044] Chr12:49964095 [GRCh38]
Chr12:50357878 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_001651.4(AQP5):c.706G>A (p.Val236Met) single nucleotide variant not specified [RCV004420046] Chr12:49965085 [GRCh38]
Chr12:50358868 [GRCh37]
Chr12:12q13.12		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR96hsa-miR-96-3pMirecordsexternal_infoNANA19363479

Predicted Target Of
Summary Value
Count of predictions:620
Count of miRNA genes:342
Interacting mature miRNAs:395
Transcripts:ENST00000293599, ENST00000553132
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.


Sequence


Ensembl Acc Id: ENST00000293599   ⟹   ENSP00000293599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,961,872 - 49,965,682 (+)Ensembl
Ensembl Acc Id: ENST00000553132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,963,575 - 49,965,215 (+)Ensembl
RefSeq Acc Id: NM_001651   ⟹   NP_001642
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,961,872 - 49,965,682 (+)NCBI
GRCh371250,355,279 - 50,359,465 (+)NCBI
Build 361248,641,546 - 48,645,227 (+)NCBI Archive
HuRef1247,386,849 - 47,390,948 (+)NCBI
CHM1_11250,321,440 - 50,325,624 (+)NCBI
T2T-CHM13v2.01249,924,863 - 49,928,671 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005268838   ⟹   XP_005268895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,961,872 - 49,965,682 (+)NCBI
GRCh371250,355,279 - 50,359,465 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054371956   ⟹   XP_054227931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01249,924,863 - 49,928,671 (+)NCBI
RefSeq Acc Id: NP_001642   ⟸   NM_001651
- UniProtKB: Q6FGW8 (UniProtKB/Swiss-Prot),   P55064 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005268895   ⟸   XM_005268838
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000293599   ⟸   ENST00000293599
RefSeq Acc Id: XP_054227931   ⟸   XM_054371956
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55064-F1-model_v2 AlphaFold P55064 1-265 view protein structure

Promoters
RGD ID:7223865
Promoter ID:EPDNEW_H17678
Type:initiation region
Name:AQP5_1
Description:aquaporin 5
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
GRCh381249,961,872 - 49,961,932EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:638 AgrOrtholog
COSMIC AQP5 COSMIC
Ensembl Genes ENSG00000161798 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000293599 ENTREZGENE
  ENST00000293599.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1080.10 UniProtKB/Swiss-Prot
GTEx ENSG00000161798 GTEx
HGNC ID HGNC:638 ENTREZGENE
Human Proteome Map AQP5 Human Proteome Map
InterPro Aquaporin-like UniProtKB/Swiss-Prot
  Aquaporin_5 UniProtKB/Swiss-Prot
  Aquaporin_transptr UniProtKB/Swiss-Prot
  MIP UniProtKB/Swiss-Prot
  MIP_CS UniProtKB/Swiss-Prot
KEGG Report hsa:362 UniProtKB/Swiss-Prot
NCBI Gene 362 ENTREZGENE
OMIM 600442 OMIM
PANTHER PTHR19139 UniProtKB/Swiss-Prot
  PTHR19139:SF38 UniProtKB/Swiss-Prot
Pfam MIP UniProtKB/Swiss-Prot
PharmGKB PA24923 PharmGKB
PRINTS AQUAPORIN5 UniProtKB/Swiss-Prot
  MINTRINSICP UniProtKB/Swiss-Prot
PROSITE MIP UniProtKB/Swiss-Prot
Superfamily-SCOP SSF81338 UniProtKB/Swiss-Prot
UniProt AQP5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6FGW8 ENTREZGENE
UniProt Secondary Q6FGW8 UniProtKB/Swiss-Prot