AQP12A Gene
protein-coding GIFtS: 41
GCID: GC02P241632
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aquaporin 12A(Previous name: aquaporin 12 )
(Previous symbol: AQP12)
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Aliases
for AQP12A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Aquaporin 12A1 2 | | Aquaporin 121 | | AQP121 2 3 5 | | Aquaporin X22 | | AQPX22 3 5 | | Aquaporin-12A1 | | AQP-122 3 | | |
Export aliases for AQP12A gene to outside databasesPrevious GC identifers: GC02P241352 GC02P233391 |
Summaries
for AQP12A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: AQ12A_HUMAN, Q8IXF9Function: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes (By similarity)
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Genomic Views
for AQP12A gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 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
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: 2q37.3AQP12A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P241632: view genomic region
(about GC identifiers)
Start:
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241,631,262 bp from pter |
End:
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241,637,900 bp from pter |
Size:
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6,639 bases |
Orientation:
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plus strand |
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Proteins
for AQP12A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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
AQP12A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_945349.1
ENSEMBL proteins: ENSP00000337144 ENSP00000399666 ENSP00000405899
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
AQP12A for ontologies About GeneDecksing
AQP12A Antibody Products:
Assay Products for AQP12A: |
Protein
Domains /
Families
for AQP12A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AQP12A for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8IXF9ProtoNet protein and cluster: Q8IXF9 1 Blocks protein family: IPB000425 MIP family
UniProtKB/Swiss-Prot: AQ12A_HUMAN, Q8IXF9Domain: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loopwith the signature motif Asn-Pro-Ala (NPA)Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily |
Function
for AQP12A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AQ12A_HUMAN, Q8IXF9Function: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: AQP12A (NM_198998) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AQP12A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP12A |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005215 | transporter activity |
IEA | -- |
AQP12A for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Aqp12tm1Rai for AQP12A
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Aqp12):
AQP12A for phenotypes About GeneDecksing
|
Pathways & Interactions
for AQP12A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AQP12A
|
Drugs & Compounds
for AQP12A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AQP12A
Search CenterWatch for drugs/clinical trials and news about AQP12A / AQ12A
|
Transcripts
for AQP12A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
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_1989986 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000337801(uc002vzu.3 uc002vzv.3) ENST00000420599 ENST00000460527
ENST00000471878 ENST00000474778 ENST00000429564
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AQP12A (NM_198998) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AQP12A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP12A |
Additional cDNA 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 |
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| SP1: | | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | - | | - | | - | | - | | | | | | |
| SP3: | | | | | | | | | | | - | | - | | - | | - | | - | | | | | | |
| SP4: | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | - | | | | | |
ECgene alternative splicing isoforms for AQP12A
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Expression
for AQP12A gene
(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
CGAP TAG: --
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, Q8IXF9Tissue specificity: Restricted to the pancreas
SABiosciences Custom PCR Arrays for AQP12A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AQP12A
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat AQP12A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AQP12A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AQP12A |
Orthologs
for AQP12A gene
(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 4/13 species (see all 13) About this table
ENSEMBL Gene Tree for AQP12A (if available)
TreeFam Gene Tree for AQP12A (if available) |
Paralogs
for AQP12A gene(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 3 protein entries: AQ12A_HUMAN (see all proteins):AQP12B AQP11
AQP12A for paralogs About GeneDecksing
|
Genomic Variants
for AQP12A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AQP12A (241631262 - 241637900 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for AQP12A
3 CNVs: 30112 29707 50437
1 Indel: 12136
1 Inversion: 37221 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AQP12A |
|
Disorders
/ Diseases
for AQP12A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AQP12A for disorders About GeneDecksing
OMIM gene information: 609789
OMIM disorders: --
5  diseases for AQP12A: About MalaCardsnephrogenic diabetes insipidus retinal vein occlusion diabetes insipidus retinitis
pancreatitis
Export disorders for AQP12A gene to outside databases
|
Publications
for AQP12A gene (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 |
- Identification of a novel aquaporin, AQP12, expressed in pancreatic acinar cells. (PubMed id 15809071)1, 2, 9 Itoh T....Ishibashi K. (2005)
- Integrative sequence and tissue expression profiling of chicken and mammalian aquaporins. (PubMed id 19607658)9 Isokpehi R.D....Cohly H.H. (2009)
- Diversity of aquaporin mRNA expressed by rat and human retinas. (PubMed id 15618890)9 Tenckhoff S....Bringmann A. (2005)
|
External Searches for AQP12A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing AQP12A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AQP12A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AQP12A gene(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
|
| Name | Description |
| PharmGKB entry for AQP12A | Pharmacogenomics, SNPs, Pathways |
|
| | |
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
|
Products
for AQP12A gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for AQP12A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AQP12A | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AQP12A | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AQP12A | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12A | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AQP12A | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AQP12A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP12A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AQP12A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AQP12A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AQP12A |
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| | | | Search Tocris compounds for AQP12A |
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 | | | AQP12A Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for AQP12A |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP12A |
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