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    AQP12B aquaporin 12B [ Homo sapiens (human) ]

    Gene ID: 653437, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AQP12Bprovided by HGNC
    Official Full Name
    aquaporin 12Bprovided by HGNC
    Primary source
    HGNC:HGNC:6096
    See related
    Ensembl:ENSG00000185176 AllianceGenome:HGNC:6096
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    INSSA3
    Summary
    Predicted to enable channel activity. Predicted to be involved in transmembrane transport and water transport. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward pancreas (RPKM 28.6) See more
    Orthologs
    all
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    Genomic context

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    See AQP12B in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240676418..240683810, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241173364..241179793, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241615835..241622302, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241564851-241565357 Neighboring gene Sharpr-MPRA regulatory region 3769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241571415-241571915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241581025-241581562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241584497-241584996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12522 Neighboring gene uncharacterized LOC124908016 Neighboring gene galactose-3-O-sulfotransferase 1 pseudogene Neighboring gene uncharacterized LOC285191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241637868-241638651 Neighboring gene aquaporin 12A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis. Eiseler K, et al. Pancreatology, 2022 Dec. PMID 36167651
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis.
      Title: Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC149473

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables water channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in water transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    aquaporin-12B
    Names
    AQP-12B
    insulin synthesis associated 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001102467.2 → NP_001095937.1  aquaporin-12B

      See identical proteins and their annotated locations for NP_001095937.1

      Status: VALIDATED

      Source sequence(s)
      AC011298
      Consensus CDS
      CCDS46560.1
      UniProtKB/TrEMBL
      B2RXL4
      Related
      ENSP00000384894.3, ENST00000407834.4
      Conserved Domains (1) summary
      cl00200
      Location:89 → 251
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      240676418..240683810 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445561.1 → XP_047301517.1  aquaporin-12B isoform X4

    2. XM_011511678.3 → XP_011509980.1  aquaporin-12B isoform X12

      Conserved Domains (1) summary
      cl00200
      Location:89 → 242
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

    3. XM_047445560.1 → XP_047301516.1  aquaporin-12B isoform X3

    4. XM_047445559.1 → XP_047301515.1  aquaporin-12B isoform X2

    5. XM_017004737.2 → XP_016860226.1  aquaporin-12B isoform X8

    6. XM_011511676.3 → XP_011509978.1  aquaporin-12B isoform X6

      Conserved Domains (1) summary
      cl00200
      Location:89 → 248
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

    7. XM_047445562.1 → XP_047301518.1  aquaporin-12B isoform X5

    8. XM_011511677.3 → XP_011509979.1  aquaporin-12B isoform X7

      Conserved Domains (1) summary
      cl00200
      Location:89 → 248
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

    9. XM_011511673.3 → XP_011509975.1  aquaporin-12B isoform X1

      Conserved Domains (1) summary
      cl00200
      Location:89 → 248
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

    10. XM_047445563.1 → XP_047301519.1  aquaporin-12B isoform X9

    11. XM_047445565.1 → XP_047301521.1  aquaporin-12B isoform X11

    12. XM_047445566.1 → XP_047301522.1  aquaporin-12B isoform X13

    13. XM_047445564.1 → XP_047301520.1  aquaporin-12B isoform X10

    RNA

    1. XR_922992.3 RNA Sequence

    2. XR_922998.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      241173364..241179793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343485.1 → XP_054199460.1  aquaporin-12B isoform X12

    2. XM_054343480.1 → XP_054199455.1  aquaporin-12B isoform X3

    3. XM_054343479.1 → XP_054199454.1  aquaporin-12B isoform X2

    4. XM_054343482.1 → XP_054199457.1  aquaporin-12B isoform X6

    5. XM_054343481.1 → XP_054199456.1  aquaporin-12B isoform X5

    6. XM_054343483.1 → XP_054199458.1  aquaporin-12B isoform X7

    7. XM_054343478.1 → XP_054199453.1  aquaporin-12B isoform X1

    8. XM_054343486.1 → XP_054199461.1  aquaporin-12B isoform X14

    9. XM_054343487.1 → XP_054199462.1  aquaporin-12B isoform X13

    10. XM_054343484.1 → XP_054199459.1  aquaporin-12B isoform X10

    RNA

    1. XR_008486495.1 RNA Sequence

    2. XR_008486496.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NM10.1 GenPept UniProtKB/Swiss-Prot:A6NM10

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