AQP8

protein-coding

aquaporin 8, the group of Aquaporins

Gene 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]

MANE transcript

NM_001169.3

Inheritance

—

ClinVar variants

U:43B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr16:25,215,731-25,228,932

External References & Databases

Ensembl (ENSG00000103375)

Transcript & Mutation Effects

hg38 • Region Span ~13.2 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 AQP8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 43

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001169.3. 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				3 clinvar	3 clinvar	6
missense			42 clinvar	1 clinvar		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	43	4	3	50

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001169.3	RefSeq	NP_001160.2	6	MANE Select
ENST00000219660.6	Ensembl	ENSP00000219660.5	6	MANE Select
ENST00000566125.5	Ensembl	ENSP00000454457.1	5	Standard
ENST00000566125.6	Ensembl	ENSP00000454457.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Bile secretion - Homo sapiens (human)
Detoxification of Reactive Oxygen Species
Cellular responses to stress
Transport of small molecules
Pyrimidine metabolism

Biological Process

water transport
transmembrane transport
cellular response to cAMP

Molecular Function

water channel activity

Cellular Component

plasma membrane
integral component of plasma membrane
apical part of cell

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000219660
Coding exons: 6
Length: 13210
Individuals with no LoFs: 125716
Homozygous LoFs: 0
Heterozygous LoFs: 30
Defined: 125746
p: 0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.567	142	162	0.875	0.0000100	1655
Missense (PolyPhen)		54	58.127	0.92899		568
Synonymous	0.673	68	75.4	0.901	0.00000524	586
Loss of Function	1.27	7	11.7	0.598	5.87e-7	115

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea.;

Recessive Scores

pRec: 0.136

Intolerance Scores

LoFtool: 0.293
RVIS EVS: 0.26
RVIS percentile EVS: 70.44

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.362

Gene Damage Prediction

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