AQP7

protein-coding

aquaporin 7, the group of Aquaporins

Gene summary

This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]

Previous symbols:

AQP7L

MANE transcript

NM_001170.3

Inheritance

—

ClinVar variants

U:9B:7

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 1.68

Max pathogenic AF

—

Genomic locus

chr9:33,383,179-33,402,682

External References & Databases

Ensembl (ENSG00000165269)

Transcript & Mutation Effects

hg38 • Region Span ~19.5 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 AQP7 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 6

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

AQP7-related conditionTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001170.3. 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
missense			3 clinvar	2 clinvar	4 clinvar	9
nonsense						0
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			1 clinvar		1 clinvar	2
Total	0	0	9	2	5	16

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 93 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001170.3	RefSeq	NP_001161.1	7	MANE Select
ENST00000297988.6	Ensembl	ENSP00000297988.1	7	MANE Select
NM_001318156.2	RefSeq	NP_001305085.1	5	Standard
NM_001318157.2	RefSeq	NP_001305086.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Regulation of lipolysis in adipocytes - Homo sapiens (human)
PPAR signaling pathway - Homo sapiens (human)
PPAR signaling pathway
Transport of small molecules
Passive transport by Aquaporins

Biological Process

generation of precursor metabolites and energy
water transport
excretion
glycerol transport
transmembrane transport

Molecular Function

urea transmembrane transporter activity
water channel activity
glycerol channel activity

Cellular Component

cytoplasm
plasma membrane
integral component of plasma membrane
cell-cell junction

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000297988
Coding exons: 7
Length: 17879
Individuals with no LoFs: 125403
Homozygous LoFs: 0
Heterozygous LoFs: 345
Defined: 125748
p: 0.00137

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.202	193	201	0.960	0.0000120	2127
Missense (PolyPhen)		67	71.226	0.94067		772
Synonymous	-0.114	85	83.7	1.02	0.00000536	710
Loss of Function	-2.13	19	11.3	1.68	5.63e-7	119

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00074	0.00074	rare
Latino/Admixed American	0.00084	0.00067	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.00022	0.00022	rare
Finnish	0.00037	0.00037	rare
European (Non-Finnish)	0.0022	0.0022	notable
South Asian	0.0013	0.0013	notable
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Forms a channel for water and glycerol.;

Recessive Scores

pRec: 0.132

Intolerance Scores

LoFtool: 0.227
RVIS EVS: 0.11
RVIS percentile EVS: 61.91

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0381

Gene Damage Prediction

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