AQP10
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Summary
AQP10 (aquaporin 10, HGNC:16029) is a protein-coding gene on chromosome 1q21.3, encoding Aquaporin-10 (Q96PS8). Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient.
This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea.
Source: NCBI Gene 89872 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 30 total — 1 likely-pathogenic
- MANE Select transcript:
NM_080429
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16029 |
| Approved symbol | AQP10 |
| Name | aquaporin 10 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000143595 |
| Ensembl biotype | protein_coding |
| OMIM | 606578 |
| Entrez | 89872 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000324978, ENST00000355197, ENST00000484864, ENST00000908289
RefSeq mRNA: 1 — MANE Select: NM_080429
NM_080429
CCDS: CCDS1065
Canonical transcript exons
ENST00000324978 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001174192 | 154321933 | 154322059 |
| ENSE00001174203 | 154321093 | 154321260 |
| ENSE00001317145 | 154323589 | 154323806 |
| ENSE00001401376 | 154324282 | 154325325 |
| ENSE00003514644 | 154323241 | 154323359 |
| ENSE00003678643 | 154322982 | 154323119 |
Expression profiles
Bgee: expression breadth broad, 63 present calls, max score 99.26.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5338 / max 125.7734, expressed in 113 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5486 | 0.2994 | 77 |
| 5485 | 0.2344 | 64 |
Top tissues by expression
212 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 99.26 | gold quality |
| duodenum | UBERON:0002114 | 93.45 | gold quality |
| monocyte | CL:0000576 | 83.37 | gold quality |
| leukocyte | CL:0000738 | 82.45 | gold quality |
| jejunum | UBERON:0002115 | 73.00 | gold quality |
| right uterine tube | UBERON:0001302 | 71.34 | gold quality |
| granulocyte | CL:0000094 | 71.27 | gold quality |
| blood | UBERON:0000178 | 64.68 | gold quality |
| right lung | UBERON:0002167 | 61.26 | gold quality |
| oocyte | CL:0000023 | 57.85 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 53.99 | gold quality |
| bone marrow cell | CL:0002092 | 50.94 | gold quality |
| fallopian tube | UBERON:0003889 | 49.83 | gold quality |
| spleen | UBERON:0002106 | 48.77 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 48.67 | gold quality |
| upper lobe of lung | UBERON:0008948 | 47.64 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 47.07 | gold quality |
| bone marrow | UBERON:0002371 | 45.85 | gold quality |
| islet of Langerhans | UBERON:0000006 | 45.11 | gold quality |
| lung | UBERON:0002048 | 45.03 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 44.26 | gold quality |
| vermiform appendix | UBERON:0001154 | 44.16 | gold quality |
| heart left ventricle | UBERON:0002084 | 43.82 | gold quality |
| cardiac ventricle | UBERON:0002082 | 43.69 | gold quality |
| amniotic fluid | UBERON:0000173 | 43.64 | gold quality |
| gall bladder | UBERON:0002110 | 43.38 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| right atrium auricular region | UBERON:0006631 | 43.32 | silver quality |
| cardiac atrium | UBERON:0002081 | 43.24 | silver quality |
| caecum | UBERON:0001153 | 43.12 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting AQP10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-6757-3P | 99.63 | 66.88 | 1089 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-4795-5P | 99.11 | 66.90 | 876 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-320A-5P | 98.88 | 66.75 | 1248 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-4266 | 98.53 | 67.29 | 1035 |
| HSA-MIR-1248 | 98.47 | 67.54 | 1314 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-8078 | 98.32 | 65.73 | 361 |
| HSA-MIR-4799-3P | 97.78 | 65.97 | 893 |
| HSA-MIR-6865-3P | 97.54 | 64.67 | 684 |
| HSA-MIR-4720-5P | 97.46 | 65.67 | 893 |
| HSA-MIR-5588-5P | 97.46 | 65.70 | 913 |
| HSA-MIR-6732-5P | 93.97 | 64.65 | 422 |
Literature-anchored findings (GeneRIF, showing 10)
- Results suggest that AQP10 represents a new member of aquaglyceroporins functionally as well as structurally. (PMID:12084581)
- AQP10 with an insertion of 475 nt was localized in the capillary endothelium in villi of the small intestine and the isoform without the insertion localized in the gastro-entero-pancrestic endocrine cells. (PMID:15898950)
- differential polarity and selective targeting of AQP3 and AQP10 in the intestinal epithelial cells is influenced by amino acid signal motifs. (PMID:18678926)
- study unveiled the uniquely dual functional characteristic of hAQP10 as a carrier/channel for solute transport, providing a novel insight into its operation mechanism, which would help further elucidate its physiological role (PMID:21691092)
- the presence of at least one glycosylated protein within each tetramer is sufficient to convey an enhanced structural stability to the remaining hAQP10 protomers of the tetramer. (PMID:21733844)
- Aquaporin-10 is expressed exclusively in the adipocytes, which is particularly important for the maintenance of normal or low glycerol contents inside the adipocyte, thus protecting humans from obesity. (PMID:23382902)
- the human aquaglyceroporins, i.e., AQP3, AQP7, AQP9 and AQP10 can act as silicon transporters in both Xenopus laevis oocytes and HEK-293 cells. (PMID:26313002)
- Expression of CXCL4 and aquaporin 3 and 10 mRNAs in middle ear effusion is associated with the pathophysiology of otitis media with effusion. (PMID:26810286)
- in human adipocytes, the decreased pH observed during lipolysis (fat burning) correlates with increased glycerol release and stimulation of aquaglyceroporin AQP10. (PMID:30420639)
- The role of water coordination in the pH-dependent gating of hAQP10. (PMID:34699768)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | aqp10a | ENSDARG00000007086 |
| danio_rerio | aqp10b | ENSDARG00000058678 |
| danio_rerio | aqp8a.2 | ENSDARG00000071592 |
| danio_rerio | aqp8b | ENSDARG00000089749 |
| rattus_norvegicus | Aqp10 | ENSRNOG00000069352 |
| drosophila_melanogaster | Drip | FBGN0015872 |
| drosophila_melanogaster | Eglp1 | FBGN0034882 |
| drosophila_melanogaster | Eglp2 | FBGN0034883 |
| drosophila_melanogaster | Eglp3 | FBGN0034884 |
| drosophila_melanogaster | Eglp4 | FBGN0034885 |
| caenorhabditis_elegans | WBGENE00000170 |
Paralogs (11): AQP6 (ENSG00000086159), AQP8 (ENSG00000103375), AQP9 (ENSG00000103569), MIP (ENSG00000135517), AQP5 (ENSG00000161798), AQP7 (ENSG00000165269), AQP3 (ENSG00000165272), AQP2 (ENSG00000167580), AQP4 (ENSG00000171885), AQP1 (ENSG00000240583), AQP7B (ENSG00000259916)
Protein
Protein identifiers
Aquaporin-10 — Q96PS8 (reviewed: Q96PS8)
Alternative names: Aquaglyceroporin-10, Small intestine aquaporin
All UniProt accessions (1): Q96PS8
UniProt curated annotations — full annotation on UniProt →
Function. Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient. Could also be permeable to urea. Among aquaglyceroporins, it exhibits a unique pH-gated glycerol transport activity, being more active at acidic pH. It most likely plays a central role in the efflux of glycerol formed during triglyceride hydrolysis in adipocytes and in glycerol uptake by enterocytes, as both processes occur and are stimulated at acidic pH.
Subunit / interactions. Homotetramer; each monomer provides an independent glycerol/water pore.
Subcellular location. Apical cell membrane. Cell membrane. Lipid droplet.
Tissue specificity. Detected in epithelial cells on villi in the ileum, and also in stomach, jejunum, colon, rectum, white adipose tissue and placenta (at protein level). Expressed in duodenum and jejunum. Highest expression in absorptive epithelial cells at the tips of villi in the jejunum. Detected in subcutaneous adipose tissue.
Post-translational modifications. N-glycosylation at Asn-133 increases the stability of the protein but has no effect on its activity.
Activity regulation. Glycerol transport is regulated by pH, with the porin being permeable to glycerol at pH 5.5 but not at pH 7.4. Water permeability, however, is not influenced by pH.
Domain organisation. Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).
Miscellaneous. In vitro, it can transport the dietary compounds erythritol and xylitol.
Similarity. Belongs to the MIP/aquaporin (TC 1.A.8) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96PS8-1 | 1 | yes |
| Q96PS8-2 | 2 |
RefSeq proteins (1): NP_536354* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000425 | MIP | Family |
| IPR022357 | MIP_CS | Conserved_site |
| IPR023271 | Aquaporin-like | Homologous_superfamily |
| IPR026252 | Aquaporin_10 | Family |
| IPR050363 | MIP/Aquaporin | Family |
Pfam: PF00230
Catalyzed reactions (Rhea), 3 shown:
- H2O(in) = H2O(out) (RHEA:29667)
- glycerol(in) = glycerol(out) (RHEA:29675)
- urea(in) = urea(out) (RHEA:32799)
UniProt features (51 total): helix 13, topological domain 9, mutagenesis site 8, transmembrane region 6, turn 3, intramembrane region 2, short sequence motif 2, glycosylation site 2, sequence variant 2, chain 1, site 1, splice variant 1, strand 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6F7H | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96PS8-F1 | 91.22 | 0.84 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 80 (ph-sensor)
Glycosylation sites (2): 128, 133
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 27 | loss of glycerol channel activity. |
| 73 | increased glycerol channel activity at acidic ph. |
| 73 | loss of glycerol channel activity. |
| 77 | decreased glycerol channel activity. |
| 80 | loss of glycerol channel activity. |
| 85 | decreased glycerol channel activity. |
| 94 | loss of glycerol channel activity. |
| 133 | abolishes n-glycosylation. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-432047 | Passive transport by Aquaporins |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-445717 | Aquaporin-mediated transport |
MSigDB gene sets: 67 (showing top):
GOBP_CARBOHYDRATE_TRANSPORT, GOBP_PROTEIN_HOMOTETRAMERIZATION, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_WATER_TRANSPORT, GOBP_POLYOL_TRANSMEMBRANE_TRANSPORT, GOBP_ONE_CARBON_COMPOUND_TRANSPORT, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_PROTEIN_HOMOOLIGOMERIZATION, GOBP_RESPONSE_TO_TOXIC_SUBSTANCE, GOBP_PROTEIN_TETRAMERIZATION, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_FLUID_TRANSPORT, chr1q21, GOCC_APICAL_PART_OF_CELL, GOCC_PLASMA_MEMBRANE_REGION
GO Biological Process (6): water transport (GO:0006833), response to toxic substance (GO:0009636), glycerol transmembrane transport (GO:0015793), protein homotetramerization (GO:0051289), transmembrane transport (GO:0055085), urea transmembrane transport (GO:0071918)
GO Molecular Function (5): urea transmembrane transporter activity (GO:0015204), water channel activity (GO:0015250), glycerol channel activity (GO:0015254), protein binding (GO:0005515), channel activity (GO:0015267)
GO Cellular Component (5): lipid droplet (GO:0005811), plasma membrane (GO:0005886), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Aquaporin-mediated transport | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| channel activity | 2 |
| plasma membrane region | 2 |
| fluid transport | 1 |
| response to chemical | 1 |
| polyol transmembrane transport | 1 |
| carbohydrate transmembrane transport | 1 |
| protein homooligomerization | 1 |
| protein tetramerization | 1 |
| transport | 1 |
| cellular process | 1 |
| urea transport | 1 |
| transmembrane transport | 1 |
| transmembrane transporter activity | 1 |
| urea transmembrane transport | 1 |
| water transmembrane transporter activity | 1 |
| glycerol transmembrane transporter activity | 1 |
| binding | 1 |
| passive transmembrane transporter activity | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| basal plasma membrane | 1 |
| apical part of cell | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2351 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AQP10 | AQP12A | Q8IXF9 | 891 |
| AQP10 | AQP8 | O94778 | 889 |
| AQP10 | MIP | P30301 | 889 |
| AQP10 | AQP11 | Q8NBQ7 | 888 |
| AQP10 | AQP6 | Q13520 | 886 |
| AQP10 | AQP5 | P55064 | 812 |
| AQP10 | AQP12B | A6NM10 | 545 |
| AQP10 | AQP7 | O14520 | 437 |
| AQP10 | AQP3 | Q92482 | 420 |
| AQP10 | SERTM2 | A0A1B0GWG4 | 397 |
| AQP10 | AQP2 | P41181 | 396 |
| AQP10 | ARRDC3 | Q96B67 | 371 |
| AQP10 | ALDH18A1 | P54886 | 360 |
| AQP10 | GK2 | Q14410 | 353 |
| AQP10 | RNF175 | Q8N4F7 | 353 |
IntAct
59 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AQP10 | SAR1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| PGRMC2 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB3L1 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP1 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEMP1 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP10 | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CISD2 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP10 | SCN3B | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR152 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYT2 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP10 | CYBC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP10 | TMEM167B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SSMEM1 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP10 | LYVE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIR2DL3 | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL13B | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PVR | AQP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| AQP10 | PGRMC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| AQP10 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| AQP10 | NEMP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| AQP10 | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| AQP10 | CISD2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| AQP10 | SCN3B | psi-mi:“MI:0915”(physical association) | 0.000 |
| AQP10 | GPR37L1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| AQP10 | GPR152 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (21): AQP10 (Two-hybrid), AQP10 (Two-hybrid), AQP10 (Two-hybrid), AQP10 (Two-hybrid), AQP10 (Two-hybrid), AQP10 (Two-hybrid), AQP10 (Two-hybrid), SYT2 (Two-hybrid), CISD2 (Two-hybrid), CREB3L1 (Two-hybrid), PGRMC2 (Two-hybrid), SSMEM1 (Two-hybrid), SCN3B (Two-hybrid), TMEM194A (Two-hybrid), ARL13B (Two-hybrid)
ESM2 similar proteins: A0A075B734, A1L272, A2IBY8, A8W649, A9Y006, D4A7H1, E7EXX2, F7B113, O14520, O35454, O54794, O62735, O94956, P34080, P35525, P41181, P47862, P47863, P47864, P51789, P51797, P56402, P56403, P79099, Q06495, Q06496, Q08DE6, Q4R691, Q5PQL3, Q62052, Q866S3, Q8BLV3, Q8BXB6, Q8BZ00, Q8IVB4, Q8K078, Q8MIQ9, Q8R2N1, Q8TCT8, Q921R8
Diamond homologs: A0A075B734, A0A384JPP3, A0A384JSZ0, A9Y006, B0D4E4, B0D4J9, B0D4K0, B0DLE4, B1VB61, F9USY3, F9UTW9, F9UUB3, G5CTF9, G5CTG0, G5CTG1, G5CTG4, G5CTG5, G5CTG6, G5CTG7, I1CR68, I1CS06, I1RHJ1, I1RIY3, I1Z8E7, I1Z8E8, I1Z8E9, I1Z8F0, I3W9F7, O14520, O43315, O54794, O62735, O77697, O77714, O77722, O77740, P0A3Q7, P0A3Q8, P0AER0, P0AER1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 27 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 493594 | GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 | Likely pathogenic |
SpliceAI
685 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:154322047:G:GA | donor_gain | 1.0000 |
| 1:154322056:TCAG:T | donor_loss | 1.0000 |
| 1:154322057:CAGG:C | donor_loss | 1.0000 |
| 1:154322058:AGG:A | donor_loss | 1.0000 |
| 1:154322060:G:GA | donor_loss | 1.0000 |
| 1:154322061:T:G | donor_loss | 1.0000 |
| 1:154323130:G:T | donor_gain | 1.0000 |
| 1:154323138:G:GT | donor_gain | 1.0000 |
| 1:154323239:A:AC | acceptor_loss | 1.0000 |
| 1:154323239:A:AG | acceptor_gain | 1.0000 |
| 1:154323239:AGAT:A | acceptor_gain | 1.0000 |
| 1:154323240:G:GT | acceptor_gain | 1.0000 |
| 1:154323240:GA:G | acceptor_gain | 1.0000 |
| 1:154323240:GAT:G | acceptor_gain | 1.0000 |
| 1:154323240:GATG:G | acceptor_gain | 1.0000 |
| 1:154323356:TCAGG:T | donor_loss | 1.0000 |
| 1:154323357:CAGG:C | donor_loss | 1.0000 |
| 1:154323358:AGG:A | donor_loss | 1.0000 |
| 1:154323360:G:GG | donor_gain | 1.0000 |
| 1:154321929:GC:G | acceptor_gain | 0.9900 |
| 1:154321929:GCA:G | acceptor_gain | 0.9900 |
| 1:154321929:GCAGC:G | acceptor_gain | 0.9900 |
| 1:154321931:A:AG | acceptor_gain | 0.9900 |
| 1:154321932:G:GG | acceptor_gain | 0.9900 |
| 1:154322046:TGGTA:T | donor_gain | 0.9900 |
| 1:154322970:T:A | acceptor_gain | 0.9900 |
| 1:154323095:G:GT | donor_gain | 0.9900 |
| 1:154323129:G:GT | donor_gain | 0.9900 |
| 1:154323139:G:T | donor_gain | 0.9900 |
| 1:154323240:GATGC:G | acceptor_gain | 0.9900 |
AlphaMissense
1905 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:154323741:C:A | N214K | 0.993 |
| 1:154323741:C:G | N214K | 0.993 |
| 1:154322995:T:A | N82K | 0.992 |
| 1:154322995:T:G | N82K | 0.992 |
| 1:154323306:T:C | F146L | 0.992 |
| 1:154323308:T:A | F146L | 0.992 |
| 1:154323308:T:G | F146L | 0.992 |
| 1:154323789:G:C | W230C | 0.986 |
| 1:154323789:G:T | W230C | 0.986 |
| 1:154323787:T:A | W230R | 0.984 |
| 1:154323787:T:C | W230R | 0.984 |
| 1:154323006:C:T | S86F | 0.983 |
| 1:154323752:A:C | D218A | 0.982 |
| 1:154323802:T:C | F235L | 0.982 |
| 1:154323804:C:A | F235L | 0.982 |
| 1:154323804:C:G | F235L | 0.982 |
| 1:154323763:C:A | R222S | 0.981 |
| 1:154323751:G:C | D218H | 0.980 |
| 1:154324301:T:A | W243R | 0.978 |
| 1:154324301:T:C | W243R | 0.978 |
| 1:154323752:A:G | D218G | 0.977 |
| 1:154324295:T:A | W241R | 0.977 |
| 1:154324295:T:C | W241R | 0.977 |
| 1:154323752:A:T | D218V | 0.975 |
| 1:154323682:G:A | G195R | 0.974 |
| 1:154323682:G:C | G195R | 0.974 |
| 1:154323006:C:A | S86Y | 0.973 |
| 1:154323090:C:A | A114D | 0.973 |
| 1:154323307:T:G | F146C | 0.973 |
| 1:154323683:G:A | G195E | 0.972 |
dbSNP variants (sampled 300 via entrez): RS1000026795 (1:154324217 G>A,T), RS1000381897 (1:154324344 C>A,T), RS1001530885 (1:154324832 T>C), RS1001658320 (1:154323282 G>A), RS1001834412 (1:154325274 G>A), RS1001995122 (1:154321654 A>G), RS1002361824 (1:154321413 C>T), RS1003671850 (1:154320059 T>A,C), RS1004151454 (1:154325337 G>A), RS1004457626 (1:154325463 C>A), RS1006163511 (1:154321786 C>A), RS1006503510 (1:154320234 A>ACTAGAGGT), RS1008692475 (1:154325538 C>A,G), RS1009096596 (1:154324230 G>A), RS1010060209 (1:154324795 C>T)
Disease associations
OMIM: gene MIM:606578 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004602_16 | Mean corpuscular volume | 2.000000e-10 |
| GCST004630_13 | Mean corpuscular hemoglobin | 9.000000e-10 |
| GCST005989_3 | Serum total protein levels | 5.000000e-09 |
| GCST005990_38 | Non-albumin protein levels | 1.000000e-12 |
| GCST008103_125 | Bipolar disorder | 2.000000e-06 |
| GCST011038_5 | Parkinson’s disease progression (motor) | 5.000000e-06 |
| GCST90002390_18 | Mean corpuscular hemoglobin | 2.000000e-14 |
| GCST90002392_285 | Mean corpuscular volume | 6.000000e-16 |
| GCST90002404_426 | Red cell distribution width | 2.000000e-13 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0008336 | disease progression measurement |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other ic — Aquaporins
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic | decreases expression, increases abundance, increases reaction, increases transport | 2 |
| Mercury | affects activity, decreases activity | 2 |
| triphenyl phosphate | affects expression | 1 |
| 1,6-hexamethylene diisocyanate | affects expression | 1 |
| trimellitic anhydride | affects expression | 1 |
| sodium arsenite | increases reaction, decreases expression, increases abundance | 1 |
| ammonium hexachloroplatinate | affects expression | 1 |
| arsenic pentoxide | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Calcitriol | increases abundance, increases reaction, decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Glycerol | increases uptake | 1 |
| Hydralazine | increases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Urea | increases uptake | 1 |
| Valproic Acid | affects cotreatment, increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Parkinson disease