Aqp12 aquaporin 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aqp12provided by MGI
Official Full Name: aquaporin 12provided by MGI
Primary source: MGI:MGI:2664636
See related: Ensembl:ENSMUSG00000045091 AllianceGenome:MGI:2664636
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mAQP12
Summary: Predicted to enable channel activity. Predicted to be involved in transmembrane transport. Located in cytoplasm. Is expressed in ductus deferens; esophagus; pancreas; pancreatic acinus; and testis. Orthologous to human AQP12A (aquaporin 12A) and AQP12B (aquaporin 12B). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in small intestine adult (RPKM 25.2), spleen adult (RPKM 13.0) and 2 other tissues See more
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Genomic context

Location:: 1 D; 1 46.72 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (92934056..92939991)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (93006334..93012269)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AQP12 may function in the mechanisms that control the proper secretion of pancreatic fluid following rapid and intense stimulation.
Title: Pancreas-specific aquaporin 12 null mice showed increased susceptibility to caerulein-induced acute pancreatitis.
a role of AQP12 in digestive enzyme secretion such as maturation and exocytosis of secretory granules
Title: Identification of a novel aquaporin, AQP12, expressed in pancreatic acinar cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:493210

NoName (e-PCR)
- UniSTS:490664

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in transmembrane 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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: aquaporin-12

Names: AQP-12

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)

NM_001159658.1 → NP_001153130.1 aquaporin-12 isoform 2

See identical proteins and their annotated locations for NP_001153130.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses a different acceptor splice site at one of the coding exons compared to variant 1, resulting in an isoform (2) 1 aa shorter than isoform 1.

Source sequence(s)

AK131815

UniProtKB/TrEMBL

Q3V2I1

Conserved Domains (1) summary

cl00200
Location:117 → 250

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 ...
NM_177587.2 → NP_808255.1 aquaporin-12 isoform 1

See identical proteins and their annotated locations for NP_808255.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AB084104, AK131815

Consensus CDS

CCDS15183.1

UniProtKB/Swiss-Prot

Q3KNM4, Q8CHJ2

Related

ENSMUSP00000060622.5, ENSMUST00000059676.5

Conserved Domains (1) summary

cl00200
Location:117 → 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 ...