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AQP12B aquaporin 12B [ Homo sapiens (human) ]

Gene ID: 653437, updated on 3-Apr-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. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward pancreas (RPKM 28.6) See more
Orthologs
all
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Genomic context

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Location:
2q37.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240676418..240683810, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241173364..241179793, complement)
105.20220307 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
  • 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)

Genotypes

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 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_2023_10

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

Gene LinkOut

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