GeneBe

AQP4

aquaporin 4, the group of Aquaporins

Basic information

Region (hg38): 18:26852043-26865771

Links

ENSG00000171885 ∙ NCBI:361 ∙ OMIM:600308 ∙ HGNC:637 ∙ Uniprot:P55087 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • neuromyelitis optica (Limited), mode of inheritance: Unknown
  • intellectual disability (Limited), mode of inheritance: AD
  • megalencephalic leukoencephalopathy with subcortical cysts 4, remitting (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Megalencephalic leukoencephalopathy with subcortical cysts 4, remittingARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingNeurologic37143309

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AQP4 gene.

  • not_specified (34 variants)
  • not_provided (6 variants)
  • Megalencephalic_leukoencephalopathy_with_subcortical_cysts_4,_remitting (2 variants)
  • AQP4-related_disorder (2 variants)
  • EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)
  • Intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001650.7. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
 3
missense
1
clinvar
1
clinvar
32
clinvar
6
clinvar
1
clinvar
 41
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 1 1 33 6 4

Highest pathogenic variant AF is 0.0000148714

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
AQP4protein_codingprotein_codingENST00000383168 513781
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.002290.9301257350131257480.0000517
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1921871801.040.000009932105
Missense in Polyphen5968.9130.85616806
Synonymous-0.6397164.51.100.00000383660
Loss of Function1.59611.90.5026.04e-7146

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00009240.0000924
European (Non-Finnish)0.00005280.0000527
Middle Eastern0.000.00
South Asian0.0001310.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system.;
Pathway
Bile secretion - Homo sapiens (human);Vasopressin-regulated water reabsorption - Homo sapiens (human);Spinal Cord Injury;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Transport of small molecules;Passive transport by Aquaporins;Vasopressin regulates renal water homeostasis via Aquaporins;Aquaporin-mediated transport (Consensus)

Recessive Scores

pRec
0.345

Intolerance Scores

loftool
0.139
rvis_EVS
-0.07
rvis_percentile_EVS
48.54

Haploinsufficiency Scores

pHI
0.273
hipred
Y
hipred_score
0.605
ghis
0.535

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.562

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Aqp4
Phenotype
immune system phenotype; renal/urinary system phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype;

Gene ontology

Biological process
renal water homeostasis;water transport;multicellular organismal water homeostasis;transmembrane transport;cellular response to interferon-gamma
Cellular component
cytoplasm;plasma membrane;external side of plasma membrane;integral component of membrane;basolateral plasma membrane
Molecular function
water transmembrane transporter activity;protein binding;water channel activity