AQP12A

protein-coding

aquaporin 12A, the group of Aquaporins

Gene summary

Predicted to enable channel activity. Predicted to be involved in transmembrane transport and water transport. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

AQP12

MANE transcript

NM_198998.3

Inheritance

—

ClinVar variants

U:49B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.62

Max pathogenic AF

—

Genomic locus

chr2:240,691,866-240,698,483

External References & Databases

Ensembl (ENSG00000184945)

Transcript & Mutation Effects

hg38 • Region Span ~6.6 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 AQP12A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 53

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198998.3. 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					1 clinvar	1
missense			49 clinvar	4 clinvar	1 clinvar	54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	4	2	55

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198998.3	RefSeq	NP_945349.1	4	MANE Select
ENST00000337801.9	Ensembl	ENSP00000337144.4	4	MANE Select

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
transmembrane transport

Molecular Function

channel activity

Cellular Component

cytoplasm
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000337801
Coding exons: 4
Length: 6639
Individuals with no LoFs: 121967
Homozygous LoFs: 2
Heterozygous LoFs: 16
Defined: 121985
p: 0.0000738

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.902	139	112	1.24	0.00000745	1820
Missense (PolyPhen)		45	30.939	1.4545		598
Synonymous	-1.27	69	56.8	1.22	0.00000415	658
Loss of Function	0.773	3	4.83	0.621	2.07e-7	77

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00021	0.00019	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000058	0.000057	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000072	0.000071	rare
South Asian	0.00027	0.00020	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. {ECO:0000250}.;

Recessive Scores

pRec: 0.0886

Essentials

Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0716

Gene Damage Prediction

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