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

AQP12B Gene

protein-coding   GIFtS: 38
GCID: GC02M241615

Aquaporin 12B

(Previous name: insulin synthesis associated 3)
(Previous symbol: INSSA3)
  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 12B1 2
INSSA31 2
Insulin Synthesis Associated 31 2
AQP-12B2 3
aquaporin-12B2

External Ids:    HGNC: 60961   Entrez Gene: 6534372   Ensembl: ENSG000001851767   UniProtKB: A6NM103   

Export aliases for AQP12B gene to outside databases

Previous GC identifers: GC02M241336 GC02M233374


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

GeneCards Summary for AQP12B Gene: 
AQP12B (aquaporin 12B) is a protein-coding gene. Diseases associated with AQP12B include posterior polar cataract, and cataract, and among its related super-pathways are Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include transporter activity. An important paralog of this gene is AQP11.

UniProtKB/Swiss-Prot: AQ12B_HUMAN, A6NM10
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 AQP12B gene promoter:
         ER-alpha   HEN1   Pax-5   HSF2   MyoD   CUTL1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   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: 2q37.3

AQP12B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AQP12B gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M241615:  view genomic region     (about GC identifiers)

Start:
241,615,835 bp from pter      End:
241,622,323 bp from pter
Size:
6,489 bases      Orientation:
minus 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: 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: A4QPB9
Alternative splicing: 2 isoforms:  A6NM10-1   A6NM10-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AQP12B: NX_A6NM10

Explore proteomics data for AQP12B at MOPED 

AQP12B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

AQP12B Protein Expression

REFSEQ proteins: NP_001095937.1  
ENSEMBL proteins: 
 ENSP00000391528   ENSP00000384894   ENSP00000407457   ENSP00000395897  

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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--

AQP12B 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 A6NM10

ProtoNet protein and cluster: A6NM10

UniProtKB/Swiss-Prot: AQ12B_HUMAN, A6NM10
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


AQP12B 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: AQ12B_HUMAN, A6NM10
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--
     
AQP12B for ontologies           About GeneDecksing


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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

SuperPaths for AQP12B About                                                                                                See pathways by source

SuperPathContained pathways About
1Nanog in Mammalian ESC Pluripotency
eNOS Signaling0.48

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AQP12B
    eNOS Signaling


Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AQP12B

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

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

AQP12B 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
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AQP12B (AQ12B)

Search CenterWatch for drugs/clinical trials and news about AQP12B / AQ12B

(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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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: BC041460
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000414322(uc002vzt.3) ENST00000459806 ENST00000407834(uc010fzj.3)
ENST00000413999 ENST00000452886
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Additional mRNA 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


(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 <intensity>2/3
CGAP TAG: AGCCCTGGGG
AQP12B Expression
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
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In Situ
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(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 5/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Aqp121 aquaporin 12 78.01(n)
75.44(a)
  208760  NM_177587.2  NP_808255.1 
chicken
(Gallus gallus)
Aves AQP121 aquaporin 12 62.4(n)
53.98(a)
  424861  NM_001109679.1  NP_001103149.1 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
53(a)
1 → many
3(30869452-30873884)
zebrafish
(Danio rerio)
Actinopterygii aqp121 aquaporin 12 53.53(n)
43.12(a)
  436844  NM_001045862.2  NP_001039327.1 
fruit fly
(Drosophila melanogaster)
Insecta AQP1 aquaporin 44.21(n)
28.81(a)
  36456  NM_079004.4  NP_523728.1 


ENSEMBL Gene Tree for AQP12B (if available)
TreeFam Gene Tree for AQP12B (if available)

(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



(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

10/149 SNPs in AQP12B are shown (see all 149)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1488198561,2
C--241615560(+) AGCACC/TATCCT 1 -- int10--------
rs1434603901,2
--241615756(+) AGACTC/TGGACC 1 -- int10--------
rs2017431291,2
--241616075(+) TGCTCA/GGTACT 2 R * stg10--------
rs2004643671,2
--241616119(+) AAAGGC/TGGGGA 2 H R mis10--------
rs1420211101,2
C--241618801(+) CAGGAA/GGGGGT 1 -- int10--------
rs1996331161,2
F--241618905(+) GTGTCA/GCCATC 1 -- int11Minor allele frequency- G:0.02EU 179
rs1421935731,2
C--241619614(+) CATGCC/TGTCAC 1 -- int10--------
rs286086421,2
C--241620241(+) AGAGAG/CACTAA 1 -- int11Minor allele frequency- C:0.50NA 2
rs44460681,2
C--241620396(+) ATAAAG/CGAGCA 1 -- int11Minor allele frequency- C:0.50NA 2
rs1442443931,2
C--241620793(+) CCCCAA/TCTGTA 1 -- int10--------

HapMap Linkage Disequilibrium report for AQP12B (241615835 - 241622323 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/12 variations for AQP12B (see all 12):    About this table     
Variant IDTypeSubtypePubMed ID
dgv4477n71CNV Loss21882294
nsv876144CNV Loss21882294
nsv876116CNV Loss21882294
dgv4480n71CNV Loss21882294
nsv876180CNV Loss21882294
dgv4479n71CNV Loss21882294
nsv460162CNV Gain19166990
dgv4481n71CNV Gain21882294
nsv470530CNV Gain18288195
nsv876177CNV Gain+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
2 diseases for AQP12B:    About MalaCards
posterior polar cataract    cataract

1 disease from the University of Copenhagen DISEASES database for AQP12B:
Posterior polar cataract

AQP12B for disorders           About GeneDecksing


Export disorders for AQP12B 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 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

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
  2. 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)
  3. 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)

(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: 653437 HGNC: 6096 Ensembl:ENSG00000185176 euGenes: HUgn653437 ECgene: AQP12B
H-InvDB: AQP12B

(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 AQP12B 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 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



(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
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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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