AQP8 aquaporin 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AQP8provided by HGNC
Official Full Name: aquaporin 8provided by HGNC
Primary source: HGNC:HGNC:642
See related: Ensembl:ENSG00000103375 MIM:603750; AllianceGenome:HGNC:642
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AQP-8
Summary: Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward colon (RPKM 257.9) See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (25216947..25228932)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (25496437..25508423)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (25228268..25240253)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AQP8 Modulates Mitochondrial H2O2 Transport to Influence Glioma Proliferation.
Title: AQP8 Modulates Mitochondrial H(2)O(2) Transport to Influence Glioma Proliferation.
Osmotic pressure induces translocation of aquaporin-8 by P38 and JNK MAPK signaling pathways in patients with functional constipation.
Title: Osmotic pressure induces translocation of aquaporin-8 by P38 and JNK MAPK signaling pathways in patients with functional constipation.
AQP8 may affect glioma proliferation and growth by regulating GSK-3beta phosphorylation and nuclear transport of beta-catenin.
Title: AQP8 may affect glioma proliferation and growth by regulating GSK-3β phosphorylation and nuclear transport of β-catenin.
Adenoviral Transfer of Human Aquaporin-8 Gene to Mouse Liver Improves Ammonia-Derived Ureagenesis.
Title: Adenoviral Transfer of Human Aquaporin-8 Gene to Mouse Liver Improves Ammonia-Derived Ureagenesis.
Aquaporin-8 is a novel marker for progression of human cervical cancer cells.
Title: Aquaporin-8 is a novel marker for progression of human cervical cancer cells.
Decreased Tumoral Expression of Colon-Specific Water Channel Aquaporin 8 Is Associated With Reduced Overall Survival in Colon Adenocarcinoma.
Title: Decreased Tumoral Expression of Colon-Specific Water Channel Aquaporin 8 Is Associated With Reduced Overall Survival in Colon Adenocarcinoma.
Further evidence for the involvement of mitochondrial aquaporin-8 in hepatocyte lipid synthesis.
Title: Further evidence for the involvement of mitochondrial aquaporin-8 in hepatocyte lipid synthesis.
Osmotic regulation of aquaporin-8 expression in retinal pigment epithelial cells in vitro: Dependence on KATP channel activation.
Title: Osmotic regulation of aquaporin-8 expression in retinal pigment epithelial cells in vitro: Dependence on K(ATP) channel activation.
The Water Channel Aquaporin 8 is a Critical Regulator of Intestinal Fluid Homeostasis in Collagenous Colitis.
Title: The Water Channel Aquaporin 8 is a Critical Regulator of Intestinal Fluid Homeostasis in Collagenous Colitis.
Aquaporin 8 is involved in H2 O2 -mediated differential regulation of metabolic signaling by alpha1 - and beta-adrenoceptors in hepatocytes.
Title: Aquaporin 8 is involved in H(2) O(2) -mediated differential regulation of metabolic signaling by α(1) - and β-adrenoceptors in hepatocytes.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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Markers

Aqp8 (e-PCR), detects polymorphism
- UniSTS:186497

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ammonium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables methylammonium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables urea channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables water channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables water channel activity	IDA Inferred from Direct Assay more info	PubMed
enables water channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables water channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ammonium import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in ammonium transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ammonium transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular detoxification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to cAMP	IEP Inferred from Expression Pattern more info	PubMed
involved_in hydrogen peroxide transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hydrogen peroxide transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in methylammonium transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in methylammonium transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transepithelial water transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in urea transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in urea transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in water transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in water transport	IDA Inferred from Direct Assay more info	PubMed
involved_in water transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in brush border membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular canaliculus	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular canaliculus	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in smooth endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in smooth endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: aquaporin-8

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_001169.3 → NP_001160.2 aquaporin-8

See identical proteins and their annotated locations for NP_001160.2

Status: REVIEWED

Source sequence(s)

AB013456, AC008741, BC040630

Consensus CDS

CCDS10626.1

UniProtKB/Swiss-Prot

O94778, Q8IUU3, Q9UIA4

UniProtKB/TrEMBL

Q53GF6

Related

ENSP00000219660.5, ENST00000219660.6

Conserved Domains (1) summary

cl00200
Location:38 → 231

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

25216947..25228932

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545822.3 → XP_011544124.1 aquaporin-8 isoform X1

See identical proteins and their annotated locations for XP_011544124.1

UniProtKB/TrEMBL

Q53GF6

Conserved Domains (1) summary

cl00200
Location:39 → 232

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 ...
XM_011545823.3 → XP_011544125.1 aquaporin-8 isoform X2

Conserved Domains (1) summary

cl00200
Location:40 → 118

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 ...