AVP
Arginine Vasopressin Gene
Gene Information Card
| Symbol | AVP |
|---|---|
| Full Name | Arginine Vasopressin |
| Gene Type | protein-coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 551 ncbi.nlm.nih.gov/gene/551 |
| Ensembl ID | ENSG00000101200 |
| UniProt ID | P01185 |
| OMIM ID | 192340 |
| HGNC ID | 894 |
| Aliases | ADH, ARVP, VP, AVP-NPII |
Description
The AVP gene encodes arginine vasopressin (AVP), a neuropeptide hormone synthesized in the hypothalamus and stored in the posterior pituitary. AVP regulates water reabsorption in the kidney, vasoconstriction, and social behavior. Mutations in AVP cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurohypophyseal Diabetes Insipidus (ADNDI) | Mutations disrupt AVP processing or secretion, leading to polyuria and polydipsia | ClinVar, OMIM |
| Autosomal Dominant Neurohypophyseal Diabetes Insipidus | Missense or frameshift mutations cause misfolding and cytotoxicity in magnocellular neurons | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hypothalamus | 124.2 | High |
| Pituitary | 45.6 | Medium |
| Kidney | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
| Hypothalamic neurons | High | Primary cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.55G>A (p.Gly19Arg) | Missense | Rare | Impaired processing, ADNDI |
| c.188C>T (p.Pro63Leu) | Missense | Rare | Dominant negative effect |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare; start loss or nonsense mutations reduce AVP production.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Common; misfolded AVP precursor accumulates and damages neurons.
View complete mutation data：
Gene Ontology (GO)
| • neuropeptide signaling pathway | • water transport |
| • vasoconstriction | • receptor binding |
| • hormone activity |
Pathways
• Vasopressin-regulated water reabsorption
• Oxytocin signaling pathway
Protein Summary
AVP is synthesized as a preproprotein (preprovasopressin) that includes a signal peptide, AVP hormone, neurophysin II, and copeptin. After cleavage, mature AVP (9 amino acids) is released into circulation. It binds to V2 receptors in the kidney to concentrate urine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AVPR1B Knockout HEK293 Cell Line | EDJ-KQ945 | Human | 553 | Details Get a Quote |
| AVPR1A Knockout HEK293 Cell Line | EDJ-KQ1596 | Human | 552 | Details Get a Quote |
| AVP Knockout HEK293 Cell Line | EDJ-KQ1716 | Human | 551 | Details Get a Quote |
| AVPR2 Knockout HEK293 Cell Line | EDJ-KQ1721 | Human | 554 | Details Get a Quote |
| AVPI1 Knockout HEK293 Cell Line | EDJ-KQ12499 | Human | 60370 | Details Get a Quote |
| AVPI1 Knockout A-549 Cell Line | EDJ-KQ40187 | Human | 60370 | Details Get a Quote |
| AVPI1 Knockout HCT 116 Cell Line | EDJ-KQ41476 | Human | 60370 | Details Get a Quote |
| AVPI1 Knockout HeLa Cell Line | EDJ-KQ41477 | Human | 60370 | Details Get a Quote |
| AVP Knockout HeLa Cell Line | EDJ-KQ52698 | Human | 551 | Details Get a Quote |
| AVPR1A Knockout HeLa Cell Line | EDJ-KQ52699 | Human | 552 | Details Get a Quote |
| AVPR1B Knockout HeLa Cell Line | EDJ-KQ52700 | Human | 553 | Details Get a Quote |
| AVPR2 Knockout HeLa Cell Line | EDC90294 | Human | 554 | Details Get a Quote |
| AVP Knockout A-549 Cell Line | EDJ-KQ61169 | Human | 551 | Details Get a Quote |
| AVPR1A Knockout A-549 Cell Line | EDJ-KQ61170 | Human | 552 | Details Get a Quote |
| AVPR1B Knockout A-549 Cell Line | EDJ-KQ61171 | Human | 553 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
