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AQP12B Gene(Protein Coding)

Aquaporin 12B

GCID:
GC02M240676
GIFtS:
39
Genes Participants
UDN Logo

Aliases for AQP12B Gene

Aliases for AQP12B Gene

  • Aquaporin 12B 2 3 5
  • 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. 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 , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AQP12B Gene

Genomics for AQP12B Gene

Products:

  1. Regulatory Element

Regulatory Elements for AQP12B Gene

Enhancers for AQP12B 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
GH02G240685 0.7 ENCODE dbSUPER 18.3 -0.8 -780 1.5 ZBTB48 EZH2 LOC285191 AQP12B AQP12A
GH02G240620 1.6 FANTOM5 Ensembl ENCODE 5.1 +61.8 61776 7.2 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 ZBTB7B YY1 FOS ZNF263 GPR35 DUSP28 CAPN10 LOC285191 PASK AQP12B AQP12A MTERF4 RNPEPL1 LOC100420500
GH02G240780 0.7 FANTOM5 1.4 -94.6 -94621 0.7 CTCF ZFHX2 ZBTB33 RBFOX2 EGR2 KIF1A ANKMY1 AQP12B AQP12A GC02P240756
GH02G240680 0.9 dbSUPER 0.7 +4.5 4478 0.7 HDGF PKNOX1 GLI4 FOS SP3 YY2 TSHZ1 ZNF662 SMARCA4 ZNF658 SNED1 ENSG00000223374 CAPN10-AS1 LOC100422094 FARP2 AQP12B LOC100420500
GH02G240683 0.5 Ensembl dbSUPER 0.7 +1.9 1868 0.6 LOC285191 AQP12A AQP12B LOC100420500
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AQP12B on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the AQP12B gene promoter:

Genomic Location for AQP12B Gene

Chromosome:
2
Start:
240,676,416 bp from pter
End:
240,685,768 bp from pter
Size:
9,353 bases
Orientation:
Minus strand

Genomic View for AQP12B Gene

Genes around AQP12B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP12B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AQP12B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AQP12B Gene

Proteins for AQP12B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for AQP12B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AQP12B Gene

No Post-translational modifications

Other Protein References for AQP12B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AQP12B Gene

Domains & Families for AQP12B Gene

Gene Families for AQP12B Gene

HGNC:

Protein Domains for AQP12B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AQP12B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NM10

UniProtKB/Swiss-Prot:

AQ12B_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 AQP12B: view

Function for AQP12B Gene

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

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

Animal Models for AQP12B Gene

MGI Knock Outs for AQP12B:

Animal Model Products

CRISPR Products

miRNA for AQP12B Gene

miRTarBase miRNAs that target AQP12B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
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 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 IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AQP12B: view

Pathways & Interactions for AQP12B Gene

SuperPathways for AQP12B Gene

PathCards logo More details on SuperPathways for AQP12B
SuperPathway Contained pathways
1 Nanog in Mammalian ESC Pluripotency
eNOS Signaling
.48
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

No data available for SIGNOR curated interactions for AQP12B Gene

Drugs & Compounds for AQP12B Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for AQP12B Gene

Products:

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

mRNA/cDNA for AQP12B Gene

(10) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AQP12B Gene

mRNA expression in normal human tissues for AQP12B Gene
mRNA expression by GTEx for AQP12B Gene

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

This gene is overexpressed in Pancreas (x52.2).

Protein differential expression in normal tissues from HIPED for AQP12B Gene

This gene is overexpressed in Islet of Langerhans (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AQP12B Gene



Protein tissue co-expression partners for AQP12B Gene

NURSA nuclear receptor signaling pathways regulating expression of AQP12B Gene:

AQP12B

SOURCE GeneReport for Unigene cluster for AQP12B Gene:

Hs.437167

Evidence on tissue expression from TISSUES for AQP12B Gene

  • Pancreas(2)
genes like me logo Genes that share expression patterns with AQP12B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 AQP12B 34
  • 80.74 (n)
-- 35
  • 72 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Aqp12a 34
  • 78.48 (n)
mouse
(Mus musculus)
 Mammalia Aqp12 34 16 35
  • 78.01 (n)
dog
(Canis familiaris)
 Mammalia -- 35
  • 68 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 16 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves AQP12 34 35
  • 62.08 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 53 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100485225 34
  • 59.78 (n)
zebrafish
(Danio rerio)
 Actinopterygii aqp12 34 35
  • 53.53 (n)
Species where no ortholog for AQP12B 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)
  • 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

(2) 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
rs1000056981 -- 240,686,803(+) TTTTA(A/T)TGATT nc-transcript-variant, upstream-variant-2KB
rs1001594777 -- 240,683,310(+) CCCAT(C/G)TCAGT nc-transcript-variant, upstream-variant-2KB
rs1001837130 -- 240,685,869(+) ACATG(C/T)ATGTG upstream-variant-2KB
rs1001995166 -- 240,681,172(+) CACAG(A/G)GACAT intron-variant
rs1002057011 -- 240,683,896(+) CTACC(C/T)ACAGC nc-transcript-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv4197n100 CNV gain 25217958
dgv7360n54 CNV gain 21841781
dgv7361n54 CNV gain 21841781
esv3575344 CNV gain 25503493
esv3594807 CNV loss 21293372
esv3594808 CNV gain 21293372
nsv1160909 CNV duplication 26073780
nsv460162 CNV gain 19166990
nsv470530 CNV gain 18288195
nsv499422 OTHER inversion 21111241
nsv584813 CNV gain 21841781
nsv584818 CNV loss 21841781
nsv584819 CNV loss 21841781
nsv584820 CNV gain 21841781
nsv7337 OTHER inversion 18451855
nsv955293 CNV deletion 24416366

Variation tolerance for AQP12B Gene

Gene Damage Index Score: 11.96; 93.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AQP12B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP12B

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

Disorders for AQP12B Gene

Relevant External Links for AQP12B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AQP12B

No disorders were found for AQP12B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AQP12B Gene

Publications for AQP12B Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64
  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 64
  3. 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 64

Products for AQP12B Gene

Sources for AQP12B Gene

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