AQP12B Gene (Protein Coding)

Aquaporin 12B

GC02M240676
GIFtS:
30
See more...

Aliases for AQP12B Gene

Aliases for AQP12B Gene

  • Aquaporin 12B 2 3 5
  • Insulin Synthesis Associated 3 2 3
  • Aquaporin-12B 3 4
  • AQP-12B 3 4
  • INSSA3 3
  • AQP12B 5

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. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is AQP12A.

UniProtKB/Swiss-Prot Summary for AQP12B Gene

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

Additional gene information for AQP12B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AQP12B Gene

Genomics for AQP12B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AQP12B 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
GH02J240685 Promoter/Enhancer 1 Ensembl ENCODE CraniofacialAtlas dbSUPER 268.2 -0.8 -805 1.5 ZBTB48 CTCF ENSG00000219159 AQP12B LOC285191 AQP12A
GH02J240682 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.7 +2.8 2838 0.1 AQP12B NONHSAG030991.2 GPR35
GH02J240683 Enhancer 0.3 Ensembl dbSUPER 267.2 +1.7 1743 1.2 AQP12B LOC285191 ENSG00000219159 AQP12A NONHSAG030991.2 GPR35
GH02J240620 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 5.1 +61.8 61750 7.2 ZBTB10 SP1 BCL11A MXD4 ZIC2 HOMEZ KDM6A THAP11 GABPA ZNF511 GPR35 DUSP28 CAPN10 ENSG00000219159 PASK AQP12B AQP12A MTERF4 RNPEPL1 HSALNG0023605
GH02J240687 Enhancer 0.3 Ensembl dbSUPER 18.1 -2.1 -2058 0.4 ENSG00000219159 LOC285191 AQP12B 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 AQP12B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AQP12B

Top Transcription factor binding sites by QIAGEN in the AQP12B gene promoter:
  • CUTL1
  • ER-alpha
  • HEN1
  • HSF2
  • MyoD
  • Pax-5

Genomic Locations for AQP12B Gene

Latest Assembly
chr2:240,676,418-240,685,743
(GRCh38/hg38)
Size:
9,326 bases
Orientation:
Minus strand

Previous Assembly
chr2:241,615,835-241,622,302
(GRCh37/hg19 by Entrez Gene)
Size:
6,468 bases
Orientation:
Minus strand

chr2:241,615,835-241,622,323
(GRCh37/hg19 by Ensembl)
Size:
6,489 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

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

Protein Domains for AQP12B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AQP12B Gene

GenScript: Design optimal peptide antigens:
  • Aquaporin-12B (AQ12B_HUMAN)
  • Aquaporin 12B (B2RXL4_HUMAN)
  • AQP12B protein (Q8IUS6_HUMAN)

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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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for AQP12B Gene

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

Phenotypes From GWAS Catalog for AQP12B Gene

Gene Ontology (GO) - Molecular Function for AQP12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
GO:0015267 channel activity IBA 21873635
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:
  • Aqp12 Aqp12<tm1.1(KOMP)Vlcg>
  • Aqp12 Aqp12<tm1Rai>

Animal Models for research

miRNA for AQP12B Gene

miRTarBase miRNAs that target AQP12B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AQP12B

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 1

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AQP12B Gene

Pathways & Interactions for AQP12B Gene

PathCards logo

SuperPathways for AQP12B Gene

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
  • eNOS Signaling

Interacting Proteins for AQP12B Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: A6NM10-AQ12B_HUMAN ENSP00000384894 for AQP12B Gene via UniProtKB STRING

GPS-Prot Interaction Network for AQP12B

Gene Ontology (GO) - Biological Process for AQP12B Gene

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

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  1. Drug products for research
No Compound Related Data Available

Transcripts for AQP12B Gene

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mRNA/cDNA for AQP12B Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 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 AQP12B

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

No ASD Table

Relevant External Links for AQP12B Gene

GeneLoc Exon Structure for
AQP12B

Expression for AQP12B 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 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

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 30
  • 80.74 (n)
-- 31
  • 72 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Aqp12a 30
  • 78.48 (n)
Mouse
(Mus musculus)
 Mammalia Aqp12 30 17 31
  • 78.01 (n)
 OneToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 68 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 16 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves AQP12 30 31
  • 62.08 (n)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 53 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100485225 30
  • 59.78 (n)
Zebrafish
(Danio rerio)
 Actinopterygii aqp12 30 31
  • 53.53 (n)
 OneToMany
Species where no ortholog for AQP12B 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)
  • 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 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:

  • AQ12B_HUMAN
  • B2RXL4_HUMAN
  • F2Z3N0_HUMAN
  • Q8IUS6_HUMAN
genes like me logo Genes that share paralogs with AQP12B: view

Variants for AQP12B 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 AQP12B 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 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)

Additional Variant Information for AQP12B Gene

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

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 AQP12B Gene

Disorders for AQP12B Gene

Additional Disease Information for AQP12B

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

ExternalLinks

View latest publications for AQP12B gene in Mastermind

Products for AQP12B Gene

Sources for AQP12B Gene