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Aliases for AQP12B Gene

Aliases for AQP12B Gene

  • Aquaporin 12B 2 3
  • Insulin Synthesis Associated 3 2 3
  • AQP-12B 3 4
  • Aquaporin-12B 3
  • INSSA3 3

External Ids for AQP12B Gene

Previous HGNC Symbols for AQP12B Gene

  • INSSA3

Previous GeneCards Identifiers for AQP12B Gene

  • GC02M241336
  • GC02M241615
  • GC02M233374

Summaries for AQP12B Gene

GeneCards Summary for AQP12B Gene

AQP12B (Aquaporin 12B) is a Protein Coding gene. Diseases associated with AQP12B include posterior polar cataract. 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 AQP12A.

UniProtKB/Swiss-Prot for AQP12B 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 AQP12B Gene

Genomics for AQP12B Gene

Regulatory Elements for AQP12B Gene

Genomic Location for AQP12B Gene

Start:
240,676,418 bp from pter
End:
240,682,906 bp from pter
Size:
6,489 bases
Orientation:
Minus strand

Genomic View for AQP12B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AQP12B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP12B Gene

Proteins for AQP12B Gene

  • Protein details for AQP12B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NM10-AQ12B_HUMAN
    Recommended name:
    Aquaporin-12B
    Protein Accession:
    A6NM10
    Secondary Accessions:
    • A4QPB9

    Protein attributes for AQP12B Gene

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

    Alternative splice isoforms for AQP12B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AQP12B Gene

Proteomics data for AQP12B Gene at MOPED

Post-translational modifications for AQP12B Gene

No Post-translational modifications

Other Protein References for AQP12B Gene

No data available for DME Specific Peptides for AQP12B Gene

Domains for AQP12B Gene

Gene Families for AQP12B Gene

HGNC:
  • AQP :Ion channels / Aquaporins

Protein Domains for AQP12B Gene

Suggested Antigen Peptide Sequences for AQP12B Gene

Graphical View of Domain Structure for InterPro Entry

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)
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily.
genes like me logo Genes that share domains with AQP12B: view

Function for AQP12B Gene

Molecular function for AQP12B Gene

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

Gene Ontology (GO) - Molecular Function for AQP12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
genes like me logo Genes that share ontologies with AQP12B: view

miRNA for AQP12B Gene

miRTarBase miRNAs that target AQP12B

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for AQP12B Gene

Localization for AQP12B Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP12B Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AQP12B Gene COMPARTMENTS Subcellular localization image for AQP12B gene
Compartment Confidence
plasma membrane 2

Gene Ontology (GO) - Cellular Components for AQP12B 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 AQP12B: view

Pathways for AQP12B Gene

SuperPathways for AQP12B Gene

Superpath Contained pathways
1 Nanog in Mammalian ESC Pluripotency
genes like me logo Genes that share pathways with AQP12B: view

Pathways by source for AQP12B Gene

1 Qiagen pathway for AQP12B Gene

Interacting Proteins for AQP12B Gene

Gene Ontology (GO) - Biological Process for AQP12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with AQP12B: view

Transcripts for AQP12B Gene

mRNA/cDNA for AQP12B Gene

(9) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AQP12B Gene

Aquaporin 12B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AQP12B Gene

No ASD Table

Relevant External Links for AQP12B Gene

GeneLoc Exon Structure for
AQP12B
ECgene alternative splicing isoforms for
AQP12B

Expression for AQP12B Gene

mRNA expression in normal human tissues for AQP12B Gene

mRNA differential expression in normal tissues according to GTEx for AQP12B Gene

This gene is overexpressed in Pancreas (52.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for AQP12B Gene

SOURCE GeneReport for Unigene cluster for AQP12B Gene Hs.437167

genes like me logo Genes that share expressions with AQP12B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for AQP12B Gene

Orthologs for AQP12B Gene

This gene was present in the common ancestor of chordates.

Orthologs for AQP12B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia -- 36
  • 72 (a)
OneToMany
AQP12B 35
  • 80.74 (n)
  • 73.31 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aqp12 35
  • 78.01 (n)
  • 75.44 (a)
Aqp12 36
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 16 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Aqp12a 35
  • 78.48 (n)
  • 75.09 (a)
chicken
(Gallus gallus)
Aves AQP12 35
  • 62.08 (n)
  • 53.61 (a)
AQP12 36
  • 52 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485225 35
  • 59.78 (n)
  • 54.35 (a)
zebrafish
(Danio rerio)
Actinopterygii aqp12 35
  • 53.53 (n)
  • 43.12 (a)
aqp12 36
  • 41 (a)
OneToMany
Species with no ortholog for AQP12B:
  • 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)
  • 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 AQP12B Gene

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

Paralogs for AQP12B Gene

Paralogs for AQP12B Gene

Selected SIMAP similar genes for AQP12B Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with AQP12B: view

Variants for AQP12B Gene

Sequence variations from dbSNP and Humsavar for AQP12B Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1807128 -- 240,676,702(+) AAAGG(C/T)GGGGA reference, missense
rs1968425 -- 240,676,143(+) AGCAC(C/T)ATCCT downstream-variant-500B
rs2004009 -- 240,683,826(-) GAAAG(C/T)GCTTT upstream-variant-2KB
rs2241678 -- 240,679,404(+) ACTTC(A/G)TATGC intron-variant
rs3889031 -- 240,683,552(-) GGGAC(A/G)CAGCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for AQP12B 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

Relevant External Links for AQP12B Gene

HapMap Linkage Disequilibrium report
AQP12B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP12B Gene

Disorders for AQP12B Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for AQP12B Gene including...

Search for AQP12B Gene in MalaCards »

(1) University of Copenhagen DISEASES for AQP12B Gene

genes like me logo Genes that share disorders with AQP12B: view

No data available for UniProtKB/Swiss-Prot for AQP12B Gene

Publications for AQP12B Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4

Products for AQP12B Gene

Sources for AQP12B Gene

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