AQP12B Gene
protein-coding GIFtS: 37
GCID: GC02M241615
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aquaporin 12B(Previous name: insulin synthesis associated 3 )
(Previous symbol: INSSA3)
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Aliases
for AQP12B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Aquaporin 12B1 2 | | INSSA31 2 | | Insulin Synthesis Associated 31 2 | | AQP-12B2 3 | | Aquaporin-12B1 |
Export aliases for AQP12B gene to outside databasesPrevious GC identifers: GC02M241336 GC02M233374 |
Summaries
for AQP12B 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: AQ12B_HUMAN, A6NM10Function: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes (By similarity)
|
Genomic Views
for AQP12B 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 AQP12B gene promoter:
ER-alpha HEN1 Pax-5 HSF2 MyoD CUTL1
Other transcription factors
Search SABiosciences Chromatin IP Primers for AQP12B
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP12B |
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: 2q37.3AQP12B 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 GC02M241615: view genomic region
(about GC identifiers)
Start:
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241,615,835 bp from pter |
End:
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241,622,323 bp from pter |
Size:
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6,489 bases |
Orientation:
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minus strand |
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Proteins
for AQP12B 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: AQ12B_HUMAN, A6NM10 (See
protein sequence)Recommended Name: Aquaporin-12B Size: 295 amino acids; 31475 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: A4QPB9Alternative splicing: 2 isoforms: A6NM10-1 A6NM10-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for AQP12B: NX_A6NM10
AQP12B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001095937.1
ENSEMBL proteins: ENSP00000391528 ENSP00000384894 ENSP00000407457 ENSP00000395897
Human Recombinant Protein Products for AQP12B:
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 | -- |
AQP12B for ontologies About GeneDecksing
AQP12B Antibody Products:
Assay Products for AQP12B: |
Protein
Domains /
Families
for AQP12B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AQP12B for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry A6NM10ProtoNet protein and cluster: A6NM10 UniProtKB/Swiss-Prot: AQ12B_HUMAN, A6NM10Domain: 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 AQP12B gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: AQ12B_HUMAN, A6NM10Function: 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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005215 | transporter activity |
IEA | -- |
AQP12B for ontologies About GeneDecksing
Animal Models:
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 AQP12B
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12B
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: AQP12B (NM_001102467) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AQP12B | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP12B |
|
Pathways & Interactions
for AQP12B 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
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Nanog in Mammalian ESC Pluripotency | |
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AQP12B
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AQP12B
|
Drugs & Compounds
for AQP12B 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 AQP12B
Search CenterWatch for drugs/clinical trials and news about AQP12B / AQ12B
|
Transcripts
for AQP12B 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,
Sirion Biotech,
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 AQP12B gene: NM_001102467.1 Unigene Cluster for AQP12B: Aquaporin 12B Hs.437167 [show with all ESTs]Unigene Representative Sequence: BC0414605 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000414322(uc002vzt.3) ENST00000459806 ENST00000407834(uc010fzj.3)
ENST00000413999 ENST00000452886
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12B
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12B
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AQP12B (NM_001102467) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AQP12B | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP12B |
Additional cDNA sequence: BC041460.1 BC139748.1 BC157895.1 BC171912.1 5 DOTS entries: DT.95346084 DT.121033314 DT.95188075 DT.121033315 DT.95237813
GeneLoc Exon Structure
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Expression
for AQP12B 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
| AQP12B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCCCTGGGG
About this image
See AQP12B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AQP12B
SOURCE GeneReport for Unigene cluster: Hs.437167
SABiosciences Custom PCR Arrays for AQP12B
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AQP12B
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AQP12B | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AQP12B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AQP12B |
Orthologs
for AQP12B 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 AQP12B gene from 4/13 species (see all 13) About this table
ENSEMBL Gene Tree for AQP12B (if available)
TreeFam Gene Tree for AQP12B (if available) |
Paralogs
for AQP12B gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AQP12B gene
- AQP12A1 2 AQP112
2 SIMAP similar genes for AQP12B using alignment to 4 protein entries: AQ12B_HUMAN (see all proteins):AQP12A AQP11
AQP12B for paralogs About GeneDecksing
|
Genomic Variants
for AQP12B 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 AQP12B (241615835 - 241622323 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for AQP12B
1 CNV: 29706
1 Inversion: 37220 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AQP12B |
|
Disorders
/ Diseases
for AQP12B 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
|
AQP12B for disorders About GeneDecksing
2  diseases for AQP12B: About MalaCardsposterior polar cataract cataract
1 disease from the University of Copenhagen DISEASES database for AQP12B:Posterior polar cataract Export disorders for AQP12B gene to outside databases
|
Publications
for AQP12B 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 AQP12B gene integrated from 9 sources:
(articles sorted by number of sources associating them with AQP12B) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for AQP12B gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing AQP12B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AQP12B gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AQP12B 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 AQP12B | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for AQP12B gene:
Search GeneIP for patents involving AQP12B
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AQP12B 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for AQP12B | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AQP12B | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AQP12B | | | OriGene Protein Over-expression Lysate for AQP12B | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AQP12B | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12B | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AQP12B | | | 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 AQP12B | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AQP12B | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP12B | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AQP12B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AQP12B | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AQP12B |
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 | | | AQP12B Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  |  | | | | Search ThermoFisher Antibodies for AQP12B |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP12B |
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