AQP6 aquaporin 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AQP6provided by HGNC
Official Full Name: aquaporin 6provided by HGNC
Primary source: HGNC:HGNC:639
See related: Ensembl:ENSG00000086159 MIM:601383; AllianceGenome:HGNC:639
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: KID; AQP2L
Summary: The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]
Expression: Biased expression in kidney (RPKM 15.5), brain (RPKM 1.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (49972947..49977139)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (49935958..49940150)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (50366730..50370922)

Chromosome 12 - NC_000012.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AQP6 and AQP8 had different expression degrees in epithelial ovarian tissues, which suggests that AQP6 and AQP8 may play certain roles in epithelial ovarian tumors.
Title: Expression of AQP6 and AQP8 in epithelial ovarian tumor.
Expression of AQP1, AQP4, or AQP6 mRNA did not differ in vestibular endorgans from patients with Meniere's disease.
Title: Immunohistochemical localization and mRNA expression of aquaporins in the macula utriculi of patients with Meniere's disease and acoustic neuroma.
Data have identified AQP6 s valuable markers for renal oncocytomas.
Title: Gene expression profiling of chromophobe renal cell carcinomas and renal oncocytomas by Affymetrix GeneChip using pooled and individual tumours.
the primary role of AQP6 may be in cellular regulation
Title: Characterization of aquaporin-6 as a nitrate channel in mammalian cells. Requirement of pore-lining residue threonine 63.

Submit: New GeneRIF Correction

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

NoName (e-PCR)
- UniSTS:486664

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:495205

RH98744 (e-PCR)
- UniSTS:92791

RH98915 (e-PCR)
- UniSTS:92312

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ammonium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables carbon dioxide transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables monoatomic anion channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables nitrate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables pH-gated chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables water channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ammonium transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in carbon dioxide transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in carbon dioxide transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in nitrate transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in odontogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in renal water transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: aquaporin-6

Names: AQP-6; aquaporin 2-like, kidney specific; aquaporin-6, kidney specific; hKID; kidney-specific aquaporin

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_001652.4 → NP_001643.2 aquaporin-6

See identical proteins and their annotated locations for NP_001643.2

Status: REVIEWED

Source sequence(s)

AC025154, U48408

Consensus CDS

CCDS31798.1

UniProtKB/Swiss-Prot

Q13520

Related

ENSP00000320247.5, ENST00000315520.10

Conserved Domains (1) summary

cl00200
Location:25 → 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 ...