AQP12A Gene (Protein Coding)

Aquaporin 12A

GC02P240691
GIFtS:
29
See more...

Aliases for AQP12A Gene

Aliases for AQP12A Gene

  • Aquaporin 12A 2 3 5
  • Aquaporin-12A 3 4
  • Aquaporin 12 2 3
  • AQP-12 3 4
  • AQP12 3 4
  • AQPX2 3 4
  • Aquaporin X2 3
  • AQP12A 5

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. Diseases associated with AQP12A include Inner Ear Disease and Diabetes Insipidus, Nephrogenic, Autosomal. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is AQP12B.

UniProtKB/Swiss-Prot Summary for AQP12A Gene

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

Additional gene information for AQP12A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AQP12A Gene

Genomics for AQP12A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AQP12A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J240691 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.7 0.0 -4 0.1 AQP12A ENSG00000219159 AQP12B
GH02J240690 Enhancer 0.3 Ensembl dbSUPER 257.7 -1.0 -950 1 AQP12A ENSG00000219159 LOC285191 AQP12B
GH02J240694 Enhancer 0.2 dbSUPER 250.7 +1.6 1611 0.7 AQP12A HSALNG0023614 ENSG00000219159 KIF1A
GH02J240620 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 5 -67.9 -67858 7.2 ZBTB10 SP1 BCL11A MXD4 ZIC2 HOMEZ KDM6A THAP11 GABPA ZNF511 GPR35 DUSP28 CAPN10 ENSG00000219159 PASK AQP12B AQP12A MTERF4 RNPEPL1 HSALNG0023605
GH02J240685 Promoter/Enhancer 1 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.1 -5.3 -5303 1.5 ZBTB48 CTCF ENSG00000219159 AQP12B LOC285191 AQP12A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AQP12A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AQP12A

Top Transcription factor binding sites by QIAGEN in the AQP12A gene promoter:
  • CUTL1
  • ER-alpha
  • HEN1
  • HSF2
  • MyoD
  • Pax-5

Genomic Locations for AQP12A Gene

Latest Assembly
chr2:240,691,851-240,698,483
(GRCh38/hg38)
Size:
6,633 bases
Orientation:
Plus strand

Previous Assembly
chr2:241,631,283-241,637,900
(GRCh37/hg19 by Entrez Gene)
Size:
6,618 bases
Orientation:
Plus strand

chr2:241,631,262-241,637,900
(GRCh37/hg19 by Ensembl)
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

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  • 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:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for AQP12A Gene

InterPro:
Blocks:
  • MIP family
ProtoNet:

Suggested Antigen Peptide Sequences for AQP12A Gene

GenScript: Design optimal peptide antigens:
  • Aquaporin-12A (AQ12A_HUMAN)

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

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  6. Cell Lines for research

Molecular function for AQP12A Gene

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

Phenotypes From GWAS Catalog for AQP12A Gene

Gene Ontology (GO) - Molecular Function for AQP12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015267 channel activity IBA 21873635
genes like me logo Genes that share ontologies with AQP12A: view
genes like me logo Genes that share phenotypes with AQP12A: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AQP12A

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 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AQP12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AQP12A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AQP12A Gene

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
  • eNOS Signaling

Interacting Proteins for AQP12A Gene

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

Symbol External ID(s) Details
AQP5
GPS-Prot Interaction Network for AQP12A

Gene Ontology (GO) - Biological Process for AQP12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane 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

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No Compound Related Data Available

Transcripts for AQP12A Gene

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mRNA/cDNA for AQP12A Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AQP12A

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

Expression for AQP12A Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
genes like me logo Genes that share expression patterns with AQP12A: view

Primer products for research

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 30
  • 80.4 (n)
-- 31
  • 69 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Aqp12a 30
  • 78.63 (n)
Mouse
(Mus musculus)
 Mammalia Aqp12 30 31
  • 77.78 (n)
 OneToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 68 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves AQP12 30 31
  • 62.01 (n)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 51 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100485225 30
  • 59.97 (n)
Zebrafish
(Danio rerio)
 Actinopterygii aqp12 30 31
  • 52.65 (n)
 OneToMany
Species where no ortholog for AQP12A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for AQP12A: view image

Paralogs for AQP12A Gene

Paralogs for AQP12A Gene

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

  • AQ12A_HUMAN
  • C9J6F6_HUMAN
genes like me logo Genes that share paralogs with AQP12A: view

Variants for AQP12A Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AQP12A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for AQP12A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP12A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AQP12A Gene

Disorders for AQP12A Gene

MalaCards: The human disease database

(2) MalaCards diseases for AQP12A Gene - From: COP

Disorder Aliases PubMed IDs
inner ear disease
  • labyrinthine disease
diabetes insipidus, nephrogenic, autosomal
  • diabetes insipidus, nephrogenic, type ii
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AQP12A

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AQP12A: view

No data available for 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 (Biochemical and biophysical research communications 2005) 3 4 23
  2. In silico study of human aquaporin AQP11 and AQP12 channels. (PMID: 23359558) Calvanese L … Oliva R (Protein science : a publication of the Protein Society 2013) 3
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 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 AD … Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group (Diabetes 2010) 41
  5. Integrative sequence and tissue expression profiling of chicken and mammalian aquaporins. (PMID: 19607658) Isokpehi RD … Cohly HH (BMC genomics 2009) 23

ExternalLinks

View latest publications for AQP12A gene in Mastermind

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