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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AQP12A Gene

protein-coding   GIFtS: 42
GCID: GC02P241632

Aquaporin 12A

(Previous name: aquaporin 12)
(Previous symbol: AQP12)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Aquaporin 12A1 2     Aquaporin 121
AQP121 2 3 5     Aquaporin X22
AQPX22 3 5     aquaporin-12A2
AQP-122 3     

External Ids:    HGNC: 199411   Entrez Gene: 3753182   Ensembl: ENSG000001849457   OMIM: 6097895   UniProtKB: Q8IXF93   

Export aliases for AQP12A gene to outside databases

Previous GC identifers: GC02P241352 GC02P233391


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for AQP12A Gene: 
AQP12A (aquaporin 12A) is a protein-coding gene. Diseases associated with AQP12A include nephrogenic diabetes insipidus, and diabetes insipidus. GO annotations related to this gene include transporter activity. An important paralog of this gene is AQP12B.

UniProtKB/Swiss-Prot: AQ12A_HUMAN, Q8IXF9
Function: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes (By
similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005416.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AQP12A gene promoter:
         ER-alpha   HEN1   Pax-5   HSF2   MyoD   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAQP12A promoter sequence
   Search SABiosciences Chromatin IP Primers for AQP12A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP12A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

AQP12A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP12A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P241632:  view genomic region     (about GC identifiers)

Start:
241,631,262 bp from pter      End:
241,637,900 bp from pter
Size:
6,639 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AQ12A_HUMAN, Q8IXF9 (See protein sequence)
Recommended Name: Aquaporin-12A  
Size: 295 amino acids; 31475 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Explore the universe of human proteins at neXtProt for AQP12A: NX_Q8IXF9

Explore proteomics data for AQP12A at MOPED 

AQP12A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

AQP12A Protein Expression

REFSEQ proteins: NP_945349.1  
ENSEMBL proteins: 
 ENSP00000337144   ENSP00000405899  

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016020membrane ----
GO:0016021integral to membrane IEA--

AQP12A for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
AQP: Ion channels / Aquaporins

4 InterPro protein domains:
 IPR016697 Aquaporin_11/12
 IPR023271 Aquaporin-like
 IPR023265 Aquaporin_12
 IPR000425 MIP

Graphical View of Domain Structure for InterPro Entry Q8IXF9

ProtoNet protein and cluster: Q8IXF9

1 Blocks protein domain: IPB000425 MIP family

UniProtKB/Swiss-Prot: AQ12A_HUMAN, Q8IXF9
Domain: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming
loop with the signature motif Asn-Pro-Ala (NPA)
Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily


AQP12A for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: AQ12A_HUMAN, Q8IXF9
Function: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes (By
similarity)

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005215transporter activity IEA--
     
AQP12A for ontologies           About GeneDecksing


Phenotypes:
     4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aqp12):
 digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  immune system 

AQP12A for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Aqp12tm1Rai for AQP12A

   inGenious Targeting Laboratory - Custom generated mouse model solutions for AQP12A 
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AQP12A

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006810transport ----

AQP12A for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for AQP12A (AQ12A)

Search CenterWatch for drugs/clinical trials and news about AQP12A / AQ12A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AQP12A gene: 
NM_198998.2  

Unigene Cluster for AQP12A:

Aquaporin 12A
Hs.534650  [show with all ESTs]
Unigene Representative Sequence: NM_198998
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000337801(uc002vzu.3 uc002vzv.3) ENST00000460527 ENST00000471878
ENST00000474778 ENST00000429564
miRNA
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Primer
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Additional mRNA sequence: AB040748.1 

1 DOTS entry:

DT.95080941 

1 AceView cDNA sequence:

NM_198998 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for AQP12A    About this scheme

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b
SP1:        -     -                                                         
SP2:                                -     -     -     -     -               
SP3:                                -     -     -     -     -               
SP4:                                -                                       
SP5:                                                        -               


ECgene alternative splicing isoforms for AQP12A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AQP12A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
AQP12A Expression
About this image


See AQP12A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AQP12A

SOURCE GeneReport for Unigene cluster: Hs.534650

UniProtKB/Swiss-Prot: AQ12A_HUMAN, Q8IXF9
Tissue specificity: Restricted to the pancreas

    SABiosciences Custom PCR Arrays for AQP12A
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP12A

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for AQP12A gene from 5/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Aqp121 , 5 aquaporin 121, 5 77.78(n)1
75.46(a)1
  1 (46.72 cM)5
2087601  NM_177587.21  NP_808255.11 
 930063345 
chicken
(Gallus gallus)
Aves AQP121 aquaporin 12 62.21(n)
54.15(a)
  424861  NM_001109679.1  NP_001103149.1 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
51(a)
1 → many
3(30869452-30873884)
zebrafish
(Danio rerio)
Actinopterygii aqp121 aquaporin 12 52.65(n)
42.42(a)
  436844  NM_001045862.2  NP_001039327.1 
fruit fly
(Drosophila melanogaster)
Insecta AQP1 aquaporin 43.19(n)
29.13(a)
  36456  NM_079004.4  NP_523728.1 


ENSEMBL Gene Tree for AQP12A (if available)
TreeFam Gene Tree for AQP12A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for AQP12A gene
AQP12B1 2  AQP112  
2 SIMAP similar genes for AQP12A using alignment to 2 protein entries:     AQ12A_HUMAN (see all proteins):
AQP12B    AQP11

AQP12A for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/162 SNPs in AQP12A are shown (see all 162)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2017279581,2
C--233390962(-) CTGGCC/TGGTTC 1 -- ut510--------
rs2001479511,2
C--233390978(-) GGGGAC/TAGAGC 1 -- ut510--------
rs3725514641,2
C--233391025(-) GCCATC/TGGCCT 1 -- ut510--------
rs40819091,2
C,F,H--233391093(+) CAGGCG/AGGCCT 2 /Q /R mis12Minor allele frequency- A:0.10NA EU 468
rs1394963561,2
--241629365(+) GCAGAG/TGCAGG 1 -- us2k10--------
rs1416453981,2
C--241629394(+) ATCCGC/TGACGC 1 -- us2k10--------
rs285837401,2
C,F--241629397(+) CGCGAT/CGCTGG 1 -- us2k16Minor allele frequency- C:0.42NA WA EA 364
rs726208561,2
C--241629418(+) TCCCGC/TTCTGG 1 -- us2k10--------
rs1892866831,2
--241629451(+) TGGTGA/TCGGAT 1 -- us2k10--------
rs3738406971,2
C--241629503(+) CCCACA/GGGGAA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for AQP12A (241631262 - 241637900 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/21 variations for AQP12A (see all 21):    About this table     
Variant IDTypeSubtypePubMed ID
nsv470531CNV Loss18288195
nsv876116CNV Loss21882294
nsv213429CNV Loss16902084
dgv4480n71CNV Loss21882294
dgv4482n71CNV Loss21882294
nsv876180CNV Loss21882294
nsv876184CNV Loss21882294
dgv4479n71CNV Loss21882294
nsv876144CNV Loss21882294
dgv4477n71CNV Loss21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 609789    OMIM disorders: --

5 diseases for AQP12A:    About MalaCards
nephrogenic diabetes insipidus    diabetes insipidus    retinal vein occlusion    retinitis
pancreatitis


AQP12A for disorders           About GeneDecksing

Genetic Association Database (GAD): AQP12A

Export disorders for AQP12A gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for AQP12A gene integrated from 9 sources:
(articles sorted by number of sources associating them with AQP12A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of a novel aquaporin, AQP12, expressed in pancreatic acinar cells. (PubMed id 15809071)1, 2, 9 Itoh T....Ishibashi K. (2005)
  2. In silico study of human aquaporin AQP11 and AQP12 cha nnels. (PubMed id 23359558)1 Calvanese L....Oliva R. (2013)
  3. A genome-wide association study identifies a novel ma jor locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (2010)
  4. Integrative sequence and tissue expression profiling of chicken and mammalian aquaporins. (PubMed id 19607658)9 Isokpehi R.D....Cohly H.H. (2009)
  5. Diversity of aquaporin mRNA expressed by rat and human retinas. (PubMed id 15618890)9 Tenckhoff S....Bringmann A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 375318 HGNC: 19941 AceView: LOC285192 Ensembl:ENSG00000184945 euGenes: HUgn375318
ECgene: AQP12A H-InvDB: AQP12A

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for AQP12A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for AQP12A gene:
Search GeneIP for patents involving AQP12A

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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(GIFtS: 73)
transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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