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AQP12A Gene(Protein Coding)

Aquaporin 12A

GCID:
GC02P240691
GIFtS:
43
Genes Participants
UDN Logo

Aliases for AQP12A Gene

Aliases for AQP12A Gene

  • Aquaporin 12A 2 3 5
  • Aquaporin 12 2 3
  • AQP-12 3 4
  • AQP12 3 4
  • AQPX2 3 4
  • Aquaporin-12A 3
  • Aquaporin X2 3

External Ids for AQP12A Gene

Previous HGNC Symbols for AQP12A Gene

  • AQP12

Previous GeneCards Identifiers for AQP12A Gene

  • GC02P241352
  • GC02P241632
  • GC02P233391

Summaries for AQP12A Gene

GeneCards Summary for AQP12A Gene

AQP12A (Aquaporin 12A) is a Protein Coding gene. Among its related pathways are Aquaporin-mediated transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP12A Gene

Genomics for AQP12A Gene

Products:

  1. Regulatory Element

Regulatory Elements for AQP12A Gene

Enhancers for AQP12A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G240620 1.6 FANTOM5 Ensembl ENCODE 5 -67.9 -67853 7.2 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 ZBTB7B YY1 FOS ZNF263 GPR35 DUSP28 CAPN10 LOC285191 PASK AQP12B AQP12A MTERF4 RNPEPL1 LOC100420500
GH02G240685 0.7 ENCODE dbSUPER 6.1 -5.3 -5298 1.5 ZBTB48 EZH2 LOC285191 AQP12B AQP12A
GH02G240683 0.5 Ensembl dbSUPER 6.1 -7.9 -7945 0.6 LOC285191 AQP12A AQP12B LOC100420500
GH02G240690 0.5 Ensembl dbSUPER 5.9 -0.9 -945 0.6 LOC285191 AQP12A
GH02G240780 0.7 FANTOM5 1.2 +88.5 88544 0.7 CTCF ZFHX2 ZBTB33 RBFOX2 EGR2 KIF1A ANKMY1 AQP12B AQP12A GC02P240756
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AQP12A on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the AQP12A gene promoter:

Genomic Location for AQP12A Gene

Chromosome:
2
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

Genes around AQP12A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP12A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AQP12A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AQP12A Gene

Proteins for AQP12A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

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

    Protein attributes for AQP12A Gene

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

neXtProt entry for AQP12A Gene

Post-translational modifications for AQP12A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AQP12A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AQP12A Gene

Domains & Families for AQP12A Gene

Gene Families for AQP12A Gene

HGNC:

Protein Domains for AQP12A Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
  • Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily.
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).
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily.
genes like me logo Genes that share domains with AQP12A: view

Function for AQP12A Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AQP12A gene
Compartment Confidence
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AQP12A Gene

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

Pathways & Interactions for AQP12A Gene

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

Selected Interacting proteins: Q8IXF9-AQ12A_HUMAN for AQP12A Gene via IID

Symbol External ID(s) Details
AQP5

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

No data available for SIGNOR curated interactions for AQP12A Gene

Drugs & Compounds for AQP12A Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for AQP12A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for AQP12A Gene

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

Unigene Clusters for AQP12A Gene

Aquaporin 12A:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AQP12A Gene

mRNA expression in normal human tissues for AQP12A Gene
mRNA expression by GTEx for AQP12A Gene

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

This gene is overexpressed in Pancreas (x52.0).

NURSA nuclear receptor signaling pathways regulating expression of AQP12A Gene:

AQP12A

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.

Evidence on tissue expression from TISSUES for AQP12A Gene

  • Pancreas(4.5)
genes like me logo Genes that share expression patterns with AQP12A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 AQP12B 34
  • 80.4 (n)
-- 35
  • 69 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Aqp12a 34
  • 78.63 (n)
mouse
(Mus musculus)
 Mammalia Aqp12 34 35
  • 77.78 (n)
dog
(Canis familiaris)
 Mammalia -- 35
  • 68 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves AQP12 34 35
  • 62.01 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 51 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100485225 34
  • 59.97 (n)
zebrafish
(Danio rerio)
 Actinopterygii aqp12 34 35
  • 52.65 (n)
Species where no ortholog for AQP12A was found in the sources mined by GeneCards:
  • 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

(2) 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
rs1000386554 -- 240,691,304(+) GGGAG(C/G)TTCAC upstream-variant-2KB
rs1000478412 -- 240,690,875(+) TGCAG(A/G)AAATT upstream-variant-2KB
rs1002467060 -- 240,695,094(+) CCCTC(C/T)TTTCT intron-variant
rs1002496752 -- 240,696,464(+) ACTCC(C/T)ATGTC intron-variant
rs1004187480 -- 240,691,660(+) GCCGA(A/G)CGTGG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv4197n100 CNV gain 25217958
dgv4198n100 CNV gain 25217958
dgv7360n54 CNV gain 21841781
dgv7361n54 CNV gain 21841781
esv3575344 CNV gain 25503493
esv3594807 CNV loss 21293372
esv3594808 CNV gain 21293372
nsv1002661 CNV gain 25217958
nsv1132525 CNV duplication 24896259
nsv1139751 CNV duplication 24896259
nsv1160909 CNV duplication 26073780
nsv213429 CNV deletion 16902084
nsv460162 CNV gain 19166990
nsv460165 CNV gain 19166990
nsv470530 CNV gain 18288195
nsv470531 CNV loss 18288195
nsv482063 CNV gain 20164927
nsv499422 OTHER inversion 21111241
nsv519624 CNV gain+loss 19592680
nsv527844 CNV gain 19592680
nsv584813 CNV gain 21841781
nsv584819 CNV loss 21841781
nsv584820 CNV gain 21841781
nsv584828 CNV loss 21841781
nsv7337 OTHER inversion 18451855
nsv955293 CNV deletion 24416366
nsv978972 OTHER complex 23825009

Variation tolerance for AQP12A Gene

Gene Damage Index Score: 7.10; 80.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AQP12A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AQP12A

No disorders were found for AQP12A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. In silico study of human aquaporin AQP11 and AQP12 channels. (PMID: 23359558) Calvanese L. … Oliva R. (Protein Sci. 2013) 3 64
  3. 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) 46 64
  4. Integrative sequence and tissue expression profiling of chicken and mammalian aquaporins. (PMID: 19607658) Isokpehi R.D. … Cohly H.H. (BMC Genomics 2009) 22 64
  5. Diversity of aquaporin mRNA expressed by rat and human retinas. (PMID: 15618890) Tenckhoff S. … Bringmann A. (Neuroreport 2005) 22 64

Products for AQP12A Gene

Sources for AQP12A Gene

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