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Aqp2Gene Detail
Summary
  • Symbol
    Aqp2
  • Name
    aquaporin 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096865
    NCBI Gene:11827
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:99476937-99482426 bp, + strand
    From NCBI annotation of GRCm39
  • View this region inJBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 15, 56.13 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    190from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
StrainGene Model IDFeature TypeCoordinatesSelect Strains
C57BL/6JMGI_C57BL6J_1096865
protein coding geneChr15:99476936-99482428 (+)
129S1/SvImJMGP_129S1SvImJ_G0022334
protein coding geneChr15:101437691-101443122 (+)
A/JMGP_AJ_G0022292
protein coding geneChr15:97391788-97398090 (+)
AKR/JMGP_AKRJ_G0022268
protein coding geneChr15:100392092-100397580 (+)
BALB/cJMGP_BALBcJ_G0022298
protein coding geneChr15:97578086-97583313 (+)
C3H/HeJMGP_C3HHeJ_G0022066
protein coding geneChr15:100453851-100459340 (+)
C57BL/6NJMGP_C57BL6NJ_G0022743
protein coding geneChr15:105221915-105227426 (+)
CAROLI/EiJMGP_CAROLIEiJ_G0020269
protein coding geneChr15:93288318-93293774 (+)
CAST/EiJMGP_CASTEiJ_G0021591
protein coding geneChr15:101327088-101332590 (+)
CBA/JMGP_CBAJ_G0022035
protein coding geneChr15:108782805-108791410 (+)
DBA/2JMGP_DBA2J_G0022162
protein coding geneChr15:96829050-96834532 (+)
FVB/NJMGP_FVBNJ_G0022142
protein coding geneChr15:95818297-95823750 (+)
LP/JMGP_LPJ_G0022233
protein coding geneChr15:101584325-101589800 (+)
NOD/ShiLtJMGP_NODShiLtJ_G0022162
protein coding geneChr15:112699391-112704835 (+)
NZO/HlLtJMGP_NZOHlLtJ_G0022758
protein coding geneChr15:100498865-100506832 (+)
PWK/PhJMGP_PWKPhJ_G0021329
protein coding geneChr15:96970559-96976140 (+)
SPRET/EiJMGP_SPRETEiJ_G0021164
protein coding geneChr15:100349953-100355497 (+)
WSB/EiJMGP_WSBEiJ_G0021641
protein coding geneChr15:101021360-101026606 (+)



Homology
more
  • Human Ortholog
    AQP2, aquaporin 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AQP2,aquaporin 2
  • Synonyms
    AQP-CD, NDI2, WCH-CD
  • Links
    NCBI Gene ID:359
    UniProt:P41181

  • Chr Location
    12q13.12; chr12:49950737-49958878(+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Aqp2 mouse models;2 with human AQP2 associations

Human DiseaseMouse Models
    
IDs
nephrogenic diabetes insipidus      

DOID:12387
ICD10CM:N25.1
ICD9CM:588.1
MESH:D018500
NCI:C84919
ORDO:223
UMLS_CUI:C0162283

View 4 models
Mouse Models

Human Disease Modeled: nephrogenic diabetes insipidus

Allelic CompositionGenetic BackgroundReferencePhenotypes
Aqp2F204V/Aqp2F204V
C57BL/6-Aqp2F204VJ:105809View
Aqp2cph/Aqp2cph
C57BL/6J-Aqp2cphJ:109463View
Aqp2tm1(AQP2)Suc/Aqp2+
involves: 129S4/SvJae * C57BL/6J:113716View
Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J:121445View
    
IDs
nephrogenic diabetes insipidus type 2      

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    42 phenotypesfrom 8 allelesin 7 genetic backgrounds
    3 phenotypes from multigenic genotypes
    2 images
    40 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic11827NCBI Gene Model |MGI Sequence Detail5490C57BL/6J± kb
transcriptNM_009699RefSeq |MGI Sequence Detail1416ZRU/MplStud 
polypeptideP56402UniProt |EBI |MGI Sequence Detail271Not Applicable 
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic22
    Genomic3
    cDNA9
    Primer pair9
    Other1

    Microarray probesets3
Other
Accession IDs
less
MGD-MRK-11531, MGD-MRK-2105, MGI:88481
References
more
  • Summaries
    All226
    Developmental Gene Expression107
    Diseases5
    Gene Ontology22
    Phenotypes40
  • Earliest
    J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
  • Latest
    J:370047 Komic J, et al., Spatial and Temporal Expression Patterns of EDA2R, PCDH9, and TRAF7 in Yotari (Dab1(-/-)) Mice: Implicationsfor Understanding CAKUT Pathogenesis. Int J Mol Sci. 2025 Jul 3;26(13)
TSS for Aqp2:
(View these features inJBrowse)
Transcription Start SiteLocationDistance from Gene 5'-end
Tssr133032Chr15:99476935-99476940 (+)1 bp
Tssr133033Chr15:99480742-99480746 (+)3,807 bp
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.		 last database update
10/07/2025
MGI 6.24		The Jackson Laboratory
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