AQP3
aquaporin 3 (Gill blood group), the group of Aquaporins|Blood group antigens
Basic information
Region (hg38): 9:33441156-33447596
Links
Phenotypes
GenCC
Source:
No genCC data.
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Blood group, GIL | BG | Hematologic | Variants associated with a blood group may be important in specific situations (eg, related to transfusion) | Hematologic | 12239222 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP3 gene is commonly pathogenic or not.
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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | |||||
| missense | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 8 | 1 | 3 |
Variants in AQP3
This is a list of pathogenic ClinVar variants found in the AQP3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 9-33441997-A-C | AQP3-related disorder | Likely benign (Jan 12, 2023) | ||
| 9-33442207-C-T | not specified | Uncertain significance (Jan 20, 2023) | ||
| 9-33442300-C-T | GIL BLOOD GROUP | Affects (Nov 29, 2002) | ||
| 9-33442341-G-T | not specified | Uncertain significance (Jan 23, 2024) | ||
| 9-33442343-C-T | not specified | Uncertain significance (Dec 15, 2023) | ||
| 9-33442452-G-A | not specified | Uncertain significance (Mar 31, 2023) | ||
| 9-33442954-G-A | AQP3-related disorder | Benign (Oct 17, 2019) | ||
| 9-33443438-C-T | not specified | Uncertain significance (Jul 08, 2022) | ||
| 9-33443781-C-T | not specified | Uncertain significance (Jul 09, 2021) | ||
| 9-33443869-G-A | Benign (Aug 30, 2018) | |||
| 9-33447426-C-G | AQP3-related disorder | Benign (Oct 17, 2019) | ||
| 9-33447470-G-C | not specified | Uncertain significance (Nov 03, 2022) | ||
| 9-33447509-C-G | not specified | Uncertain significance (Aug 22, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AQP3 | protein_coding | protein_coding | ENST00000297991 | 6 | 6458 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.134 | 0.862 | 125704 | 0 | 33 | 125737 | 0.000131 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.58 | 117 | 176 | 0.664 | 0.0000103 | 1844 |
| Missense in Polyphen | 38 | 83.127 | 0.45713 | 855 | ||
| Synonymous | 0.940 | 68 | 78.6 | 0.865 | 0.00000513 | 638 |
| Loss of Function | 2.51 | 4 | 14.2 | 0.281 | 8.02e-7 | 123 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000795 | 0.000789 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000116 | 0.000109 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000368 | 0.0000352 |
| Middle Eastern | 0.000116 | 0.000109 |
| South Asian | 0.00 | 0.00 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity). {ECO:0000250}.;
- Pathway
- Vasopressin-regulated water reabsorption - Homo sapiens (human);Polythiazide Action Pathway;Methyclothiazide Action Pathway;Bumetanide Action Pathway;Spironolactone Action Pathway;Eplerenone Action Pathway;Triamterene Action Pathway;Amiloride Action Pathway;Ethacrynic Acid Action Pathway;Quinethazone Action Pathway;Bendroflumethiazide Action Pathway;Chlorthalidone Action Pathway;Trichlormethiazide Action Pathway;Iminoglycinuria;Lysinuric Protein Intolerance;Blue diaper syndrome;Lysinuric protein intolerance (LPI);Cystinuria;Indapamide Action Pathway;Furosemide Action Pathway;Torsemide Action Pathway;Hartnup Disorder;Glucose Transporter Defect (SGLT2);Kidney Function;Glucose Transporter Defect (SGLT2);Metolazone Action Pathway;Hydrochlorothiazide Action Pathway;Cyclothiazide Action Pathway;Hydroflumethiazide Action Pathway;Chlorothiazide Action Pathway;Preimplantation Embryo;Transport of small molecules;Passive transport by Aquaporins;Vasopressin regulates renal water homeostasis via Aquaporins;Aquaporin-mediated transport;Stabilization and expansion of the E-cadherin adherens junction
(Consensus)
Recessive Scores
- pRec
- 0.339
Intolerance Scores
- loftool
- 0.172
- rvis_EVS
- -0.3
- rvis_percentile_EVS
- 32.62
Haploinsufficiency Scores
- pHI
- 0.361
- hipred
- Y
- hipred_score
- 0.608
- ghis
- 0.591
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.514
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aqp3
- Phenotype
- digestive/alimentary phenotype; skeleton phenotype; renal/urinary system phenotype; immune system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); taste/olfaction 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); growth/size/body region phenotype; craniofacial phenotype; homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- aqp3a
- Affected structure
- iridophore
- Phenotype tag
- abnormal
- Phenotype quality
- irregular spatial pattern
Gene ontology
- Biological process
- positive regulation of immune system process;renal water homeostasis;water transport;excretion;glycerol transport;urea transport;response to retinoic acid;response to vitamin D;odontogenesis;regulation of keratinocyte differentiation;response to calcium ion;transmembrane transport;renal water absorption;cellular response to hypoxia;cellular response to oxygen-glucose deprivation
- Cellular component
- nucleus;cytoplasm;plasma membrane;cell-cell junction;integral component of membrane;basolateral plasma membrane
- Molecular function
- transporter activity;urea transmembrane transporter activity;water channel activity;glycerol channel activity