AQP5
aquaporin 5, the group of Aquaporins
Basic information
Region (hg38): 12:49961872-49965682
Links
Phenotypes
GenCC
Source:
- palmoplantar keratoderma, Bothnian type (Strong), mode of inheritance: AD
- palmoplantar keratoderma, Bothnian type (Strong), mode of inheritance: AD
- nonepidermolytic palmoplantar keratoderma (Supportive), mode of inheritance: AD
- palmoplantar keratoderma, Bothnian type (Moderate), mode of inheritance: AD
- palmoplantar keratoderma, Bothnian type (Moderate), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Palmoplantar keratoderma, Bothnian type | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Dermatologic | 23830519 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (36 variants)
- not_specified (34 variants)
- Palmoplantar_keratoderma,_Bothnian_type (7 variants)
- AQP5-related_disorder (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001651.4. 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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 7 | |||||
| missense | 40 | 54 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 4 | 1 | 40 | 9 | 7 |
Highest pathogenic variant AF is 0.0000204569
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AQP5 | protein_coding | protein_coding | ENST00000293599 | 4 | 3812 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0532 | 0.871 | 125727 | 0 | 16 | 125743 | 0.0000636 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.376 | 156 | 170 | 0.919 | 0.0000105 | 1671 |
| Missense in Polyphen | 57 | 65.879 | 0.86522 | 633 | ||
| Synonymous | 0.261 | 80 | 83.0 | 0.964 | 0.00000570 | 607 |
| Loss of Function | 1.48 | 3 | 7.31 | 0.411 | 3.11e-7 | 80 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000249 | 0.000240 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000708 | 0.0000703 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000658 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions. Required for TRPV4 activation by hypotonicity (PubMed:16571723). Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723). {ECO:0000269|PubMed:16571723}.;
- Disease
- DISEASE: Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231]: A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections. {ECO:0000269|PubMed:23830519}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Salivary secretion - Homo sapiens (human);Transport of small molecules;Passive transport by Aquaporins;Aquaporin-mediated transport;Stabilization and expansion of the E-cadherin adherens junction
(Consensus)
Recessive Scores
- pRec
- 0.241
Intolerance Scores
- loftool
- 0.199
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.37
Haploinsufficiency Scores
- pHI
- 0.379
- hipred
- N
- hipred_score
- 0.252
- ghis
- 0.534
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.786
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aqp5
- Phenotype
- digestive/alimentary phenotype; respiratory system 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); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- water transport;excretion;carbon dioxide transport;pancreatic juice secretion;odontogenesis;saliva secretion;camera-type eye morphogenesis;transmembrane transport
- Cellular component
- endoplasmic reticulum;plasma membrane;integral component of plasma membrane;microvillus;basal plasma membrane;integral component of membrane;apical plasma membrane;extracellular exosome
- Molecular function
- protein binding;water channel activity;identical protein binding