AQP4 - aquaporin 4 Gene
Also Known as MIWC; WCH4; hAQP4
Species: Homo sapiens
About AQP4
This gene has 10 transcripts (splice variants), 250 orthologues and 11 paralogues. Biased expression in brain (RPKM 248.2) and lung (RPKM 72.5).
Summary
This gene encodes a member of the Aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant Aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
AQP4 Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001317384.3 | NP_001304313.1 | aquaporin-4 isoform M1x |
| NM_001317387.3 | NP_001304316.1 | aquaporin-4 isoform delta4 |
| NM_001364286.1 | NP_001351215.1 | aquaporin-4 isoform M23 |
| NM_001364287.1 | NP_001351216.1 | aquaporin-4 isoform M23x |
| NM_001364289.2 | NP_001351218.1 | aquaporin-4 isoform M23x |
| NM_001650.7 | NP_001641.1 | aquaporin-4 isoform M1 |
| NM_004028.5 | NP_004019.1 | aquaporin-4 isoform M23 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
19383790 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25910212 | GOA |
| enables water channel activity |
EXP
EXP: Inferred from Experiment
|
17178220 | GOA |
| enables water channel activity |
IDA
IDA: Inferred from direct assay
|
8601457 | GOA |
| enables water channel activity |
IMP
IMP: Inferred from mutant phenotype
|
37143309 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cellular response to type II interferon |
IDA
IDA: Inferred from direct assay
|
17645239 | GOA |
| involved in intracellular water homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
37143309 | GOA |
| involved in multicellular organismal-level water homeostasis |
IEP
IEP: Inferred from expression pattern
|
16814974 | GOA |
| involved in protein homotetramerization |
IDA
IDA: Inferred from direct assay
|
19383790 | GOA |
| involved in water transport |
IDA
IDA: Inferred from direct assay
|
8601457 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
18392839 | GOA |
| located in external side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
17645239 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
8601457 | GOA |
| located in sarcolemma |
IDA
IDA: Inferred from direct assay
|
29055082 | GOA |
AQP4 Protein Structure
MIP: Major intrinsic protein (32 - 248)
- 0
- 100
- 200
- 300
- 323 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
aquaporin-4 |
|
AQP4 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
AQP4 | P55087 | GJA8 | Homo sapiens | P48165 | 32296183 | |
|
Intra
|
AQP4 | P55087 | GJA8 | Homo sapiens | P48165 | 32296183 | |
|
Intra
|
AQP4 | P55087 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
AQP4 | P55087 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
AQP4 | P55087 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
AQP4 | P55087 | HPCAL4 | Homo sapiens | Q9UM19 | 32296183 | |
|
Intra
|
AQP4 | P55087 | HPCAL4 | Homo sapiens | Q9UM19 | 32296183 | |
|
Intra
|
AQP4 | P55087 | HPCAL4 | Homo sapiens | Q9UM19 | 32296183 |
Recombinant AQP4 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72087 | AQP4 Protein, Human (His-SUMO) | P55087-1 (C253-V323) | ≥ 90%, as determined by reducing SDS-PAGE. |
AQP4 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83459 | Aquaporin 4 Antibody (YA3204) | IHC-P | Human, Rat |
| HY-P83459A | Aquaporin 4 Antibody | WB, IHC-P, IHC-F, FC, ICC/IF | Human, Mouse, Rat |
| HY-P85657 | Aquaporin 4 Antibody (YA5349) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Brain Edema |
|
|
| Neuromyelitis Optica |
|
|
| Transverse Myelitis |
|
|
| Optic Neuritis |
|
|
| Myelitis |
|
|
| Demyelinating Disease |
|
|
| Intracranial Hypertension |
|
|
| Autoimmune Disease Of Peripheral Nervous System |
|
|
| Cranial Nerve Disease |
|
|
| Spinal Cord Disease |
|
|
| Balo Concentric Sclerosis |
|
|
| Internuclear Ophthalmoplegia |
|
|
| Acute Retrobulbar Neuritis |
|
|
| Spinal Cord Injury |
|
|
| Arachnoiditis |
|
|
| Brown-Sequard Syndrome |
|
|
| Neuritis |
|
|
| Optic Papillitis |
|
|
| Acute Disseminated Encephalomyelitis |
|
|
| Sarcoid Meningitis |
|
|
| Vascular Myelopathy |
|
|
| Autoimmune Optic Neuritis |
|
|
| Nephrogenic Diabetes Insipidus |
|
|
| Temporal Lobe Epilepsy |
|
|
| Neurosarcoidosis |
|
|
| Multiple Sclerosis |
|
|
| Encephalitis |
|
|
| Intracranial Hypertension, Idiopathic |
|
|
| Diabetes Insipidus |
|
|
| Acute Flaccid Myelitis |
|
|
| Acute Hemorrhagic Leukoencephalitis |
|
|
| Obstructive Hydrocephalus |
|
|
| Communicating Hydrocephalus |
|
|
| Sudden Infant Death Syndrome |
|
|
| Hydrocephalus |
|
|
| Supratentorial Meningioma |
|
|
| Autoimmune Disease Of Central Nervous System |
|
|
| Central Pontine Myelinolysis |
|
|
| Nonarteritic Anterior Ischemic Optic Neuropathy |
|
|
| Optic Nerve Disease |
|
|
| Hand, Foot And Mouth Disease |
|
|
| Cerebritis |
|
|
| Meningitis |
|
|
| Acute Necrotizing Encephalitis |
|
|
| Narcolepsy |
|
|
| Syringomyelia |
|
|
| Intermittent Proptosis |
|
|
| Tuberculous Encephalopathy |
|
|
| Cranial Nerve Palsy |
|
|
| Neuroretinitis |
|
|
| Neuroma |
|
|
| Normal Pressure Hydrocephalus |
|
|
| Mouth Disease |
|
|
| Primary Progressive Multiple Sclerosis |
|
|
| Inappropriate Adh Syndrome |
|
|
| Constipation |
|
|
| Cerebral Degeneration |
|
|
| Intracranial Arteriosclerosis |
|
|
| Brain Cancer |
|
|
| Brachial Plexus Neuritis |
|
|
| Stroke, Ischemic |
|
|
| Abducens Palsy |
|
|
| Scotoma |
|
|
| Hepatic Encephalopathy |
|
|
| Facial Nerve Disease |
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
|
| Papilledema |
|
|
| Megalencephalic Leukoencephalopathy With Subcortical Cysts |
|
|
| Facial Paralysis |
|
|
| Branch Retinal Artery Occlusion |
|
|
| Toxic Optic Neuropathy |
|
|
| Wernicke Encephalopathy |
|
|
| Subacute Delirium |
|
|
| Demyelinating Polyneuropathy |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Autoimmune Disease Of Exocrine System |
|
|
| Miller Fisher Syndrome |
|
|
| Peripheral Nervous System Disease |
|
|
| Alexander Disease |
|
|
| Peripheral Vertigo |
|
|
| Secondary Progressive Multiple Sclerosis |
|
|
| Autoimmune Disease |
|
|
| Progressive Multifocal Leukoencephalopathy |
|
|
| Chickenpox |
|
|
| Muscular Dystrophy |
|
|
| Visual Pathway Disease |
|
|
| Ocular Motility Disease |
|
|
| Immune Deficiency Disease |
|
|
| Hypersensitivity Reaction Type Iv Disease |
|
|
| Cataract |
|
|
| Schizophrenia |
|
|
| Petrous Apex Meningioma |
|
|
| Acquired Color Blindness |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Behcet Syndrome |
|
|
| Nervous System Disease |
|
|
| Strabismus |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Eye Disease |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | AQP4 | VGNC | VGNC:38018 |
| Mus musculus | AQP4 | MGD | MGI:107387 |
| Bos taurus | AQP4 | VGNC | VGNC:26047 |
| Rattus norvegicus | AQP4 | RGD | RGD:2143 |
| Macaca mulatta | AQP4 | VGNC | VGNC:69993 |
| Felis catus | AQP4 | VGNC | VGNC:80422 |
| Others | AQP4 | NCBI |