AQP6

protein-coding

aquaporin 6, the group of Aquaporins

Gene 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]

Previous symbols:

AQP2L

MANE transcript

NM_001652.4

Inheritance

—

ClinVar variants

U:40B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.48

Max pathogenic AF

—

Genomic locus

chr12:49,967,194-49,977,139

External References & Databases

Ensembl (ENSG00000086159)

Transcript & Mutation Effects

hg38 • Region Span ~9.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AQP6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 42

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001652.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense			40 clinvar	2 clinvar	1 clinvar	43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	2	3	45

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001652.4	RefSeq	NP_001643.2	4	MANE Select
ENST00000315520.10	Ensembl	ENSP00000320247.5	4	MANE Select
ENST00000551733.5	Ensembl	ENSP00000449830.1	3	Standard
ENST00000551733.6	Ensembl	ENSP00000449830.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Transport of small molecules
Passive transport by Aquaporins
Aquaporin-mediated transport

Biological Process

water transport
excretion
nitrate transport
odontogenesis
transmembrane transport

Molecular Function

nitrate transmembrane transporter activity
water channel activity

Cellular Component

plasma membrane
integral component of plasma membrane
integral component of membrane
apical plasma membrane
cytoplasmic vesicle membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000315520
Coding exons: 4
Length: 9946
Individuals with no LoFs: 125690
Homozygous LoFs: 0
Heterozygous LoFs: 57
Defined: 125747
p: 0.000227

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.550	155	176	0.883	0.0000108	1756
Missense (PolyPhen)		47	67.587	0.6954		710
Synonymous	-0.192	83	80.8	1.03	0.00000544	655
Loss of Function	1.41	4	8.42	0.475	4.40e-7	84

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000068	0.000062	rare
Latino/Admixed American	0.00028	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00038	0.00038	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.000091	0.000088	rare
South Asian	0.0010	0.00091	notable
Other	0.00018	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism. {ECO:0000250}.;

Recessive Scores

pRec: 0.140

Intolerance Scores

LoFtool: 0.128
RVIS EVS: 0.42
RVIS percentile EVS: 77.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.127

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium