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Aliases for AQP12A Gene

Aliases for AQP12A Gene

  • Aquaporin 12A 2 3
  • AQP12 3 4 6
  • AQPX2 3 4 6
  • Aquaporin 12 2 3
  • AQP-12 3 4
  • Aquaporin-12A 3
  • Aquaporin X2 3

External Ids for AQP12A Gene

Previous Symbols for AQP12A Gene

  • AQP12

Summaries for AQP12A Gene

GeneCards Summary for AQP12A Gene

AQP12A (Aquaporin 12A) is a Protein Coding gene. Among its related pathways are Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include transporter activity. An important paralog of this gene is AQP12B.

UniProtKB/Swiss-Prot for AQP12A Gene

  • Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP12A Gene

Genomics for AQP12A Gene

Genomic Location for AQP12A Gene

Start:
240,691,845 bp from pter
End:
240,698,483 bp from pter
Size:
6,639 bases
Orientation:
Plus strand

Genomic View for AQP12A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AQP12A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP12A Gene

Regulatory Elements for AQP12A Gene

Proteins for AQP12A Gene

  • Protein details for AQP12A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXF9-AQ12A_HUMAN
    Recommended name:
    Aquaporin-12A
    Protein Accession:
    Q8IXF9
    Secondary Accessions:

    Protein attributes for AQP12A Gene

    Size:
    295 amino acids
    Molecular mass:
    31475 Da
    Quaternary structure:
    No Data Available

neXtProt entry for AQP12A Gene

Proteomics data for AQP12A Gene at MOPED

Post-translational modifications for AQP12A Gene

No Post-translational modifications

Other Protein References for AQP12A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AQP12A Gene

Domains for AQP12A Gene

Gene Families for AQP12A Gene

HGNC:
  • AQP :Ion channels / Aquaporins

Protein Domains for AQP12A Gene

Suggested Antigen Peptide Sequences for AQP12A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IXF9

UniProtKB/Swiss-Prot:

AQ12A_HUMAN
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):
    • Q8IXF9
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily.:
    • Q8IXF9
genes like me logo Genes that share domains with AQP12A: view

Function for AQP12A Gene

Molecular function for AQP12A Gene

UniProtKB/Swiss-Prot Function: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.

Gene Ontology (GO) - Molecular Function for AQP12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
genes like me logo Genes that share ontologies with AQP12A: view
genes like me logo Genes that share phenotypes with AQP12A: view

Animal Models for AQP12A Gene

MGI Knock Outs for AQP12A:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for AQP12A Gene

Localization for AQP12A Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP12A Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AQP12A Gene COMPARTMENTS Subcellular localization image for AQP12A gene
Compartment Confidence
extracellular 2
plasma membrane 2
cytosol 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AQP12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AQP12A: view

Pathways for AQP12A Gene

SuperPathways for AQP12A Gene

Superpath Contained pathways
1 Nanog in Mammalian ESC Pluripotency
genes like me logo Genes that share pathways with AQP12A: view

Pathways by source for AQP12A Gene

1 Qiagen pathway for AQP12A Gene

Interacting Proteins for AQP12A Gene

Gene Ontology (GO) - Biological Process for AQP12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with AQP12A: view

Transcripts for AQP12A Gene

mRNA/cDNA for AQP12A Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AQP12A Gene

Aquaporin 12A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AQP12A Gene

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

Relevant External Links for AQP12A Gene

GeneLoc Exon Structure for
AQP12A
ECgene alternative splicing isoforms for
AQP12A

Expression for AQP12A Gene

mRNA expression in normal human tissues for AQP12A Gene

mRNA differential expression in normal tissues according to GTEx for AQP12A Gene

This gene is overexpressed in Pancreas (52.0).

SOURCE GeneReport for Unigene cluster for AQP12A Gene Hs.534650

mRNA Expression by UniProt/SwissProt for AQP12A Gene

Q8IXF9-AQ12A_HUMAN
Tissue specificity: Restricted to the pancreas.
genes like me logo Genes that share expressions with AQP12A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression for AQP12A Gene

Orthologs for AQP12A Gene

This gene was present in the common ancestor of chordates.

Orthologs for AQP12A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia -- 36
  • 69 (a)
OneToMany
AQP12B 35
  • 80.4 (n)
  • 73.24 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aqp12 35
  • 77.78 (n)
  • 75.46 (a)
Aqp12 16
Aqp12 36
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Aqp12a 35
  • 78.63 (n)
  • 75.09 (a)
chicken
(Gallus gallus)
Aves AQP12 35
  • 62.01 (n)
  • 53.76 (a)
AQP12 36
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485225 35
  • 59.97 (n)
  • 54.55 (a)
zebrafish
(Danio rerio)
Actinopterygii aqp12 35
  • 52.65 (n)
  • 42.42 (a)
aqp12 36
  • 39 (a)
OneToMany
Species with no ortholog for AQP12A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AQP12A Gene

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

Paralogs for AQP12A Gene

Paralogs for AQP12A Gene

Selected SIMAP similar genes for AQP12A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AQP12A: view

Variants for AQP12A Gene

Sequence variations from dbSNP and Humsavar for AQP12A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs4328629 -- 240,692,059(+) TCGGG(C/G)CCTGC intron-variant
rs4343462 -- 240,692,251(+) CGCTG(C/T)TGAAG synonymous-codon, reference
rs4374371 -- 240,692,066(+) CTGCT(G/T)CCTGG intron-variant
rs6729963 -- 240,694,077(-) AGAGA(C/G)ACTAA intron-variant
rs11889147 -- 240,692,199(+) CCCAC(C/T)GTGTC synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for AQP12A Gene

Variant ID Type Subtype PubMed ID
nsv876116 CNV Loss 21882294
nsv876144 CNV Loss 21882294
dgv4477n71 CNV Loss 21882294
nsv7337 OTHER Inversion 18451855
nsv470530 CNV Gain 18288195
dgv4479n71 CNV Loss 21882294
nsv876177 CNV Gain+Loss 21882294
dgv4480n71 CNV Loss 21882294
nsv460162 CNV Gain 19166990
nsv876180 CNV Loss 21882294
dgv4481n71 CNV Gain 21882294
nsv499422 OTHER Inversion 21111241
nsv470531 CNV Loss 18288195
nsv519624 CNV Gain+Loss 19592680
nsv460165 CNV Gain 19166990
nsv527844 CNV Gain 19592680
dgv4482n71 CNV Loss 21882294
nsv876184 CNV Loss 21882294
nsv876185 CNV Loss 21882294
nsv482063 CNV Gain 20164927
nsv213429 CNV Loss 16902084

Relevant External Links for AQP12A Gene

HapMap Linkage Disequilibrium report
AQP12A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP12A Gene

Disorders for AQP12A Gene

Relevant External Links for AQP12A

Genetic Association Database (GAD)
AQP12A
genes like me logo Genes that share disorders with AQP12A: view

No data available for UniProtKB/Swiss-Prot for AQP12A Gene

Publications for AQP12A Gene

  1. Identification of a novel aquaporin, AQP12, expressed in pancreatic acinar cells. (PMID: 15809071) Itoh T. … Ishibashi K. (Biochem. Biophys. Res. Commun. 2005) 3 4 23
  2. Integrative sequence and tissue expression profiling of chicken and mammalian aquaporins. (PMID: 19607658) Isokpehi R.D. … Cohly H.H. (BMC Genomics 2009) 23
  3. In silico study of human aquaporin AQP11 and AQP12 channels. (PMID: 23359558) Calvanese L. … Oliva R. (Protein Sci. 2013) 3
  4. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PMID: 19875614) Paterson A.D. … Bull S.B. (Diabetes 2010) 48
  5. Diversity of aquaporin mRNA expressed by rat and human retinas. (PMID: 15618890) Tenckhoff S. … Bringmann A. (Neuroreport 2005) 23

Products for AQP12A Gene

Sources for AQP12A Gene

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