AVP

arginine vasopressin, the group of Neuropeptides

Basic information

Region (hg38): 20:3082555-3084724

Previous symbols: [ "ARVP" ]

Links

ENSG00000101200 ∙ NCBI:551 ∙ OMIM:192340 ∙ HGNC:894 ∙ Uniprot:P01185 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurohypophyseal diabetes insipidus (Strong), mode of inheritance: AD
• neurohypophyseal diabetes insipidus (Supportive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Diabetes insipidus, neurohypophyseal	AD/AR	Endocrine; Renal	Treatment/prevention of hypernatremia can be effective; Medications related to osteoporosis/osteopenia may be beneficial	Endocrine; Renal	10404801; 10369876; 14673472; 15070970; 22524462

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AVP gene.

• not provided (33 variants)
• Neurohypophyseal diabetes insipidus (11 variants)
• Inborn genetic diseases (8 variants)
• AVP-related condition (1 variants)
• Diabetes insipidus (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AVP 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				8		8
missense	5	1	15	2	4	27
nonsense						0
start loss						0
frameshift						0
inframe indel		1				1
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding				1	4	5
Total	5	2	15	11	8

Variants in AVP

This is a list of pathogenic ClinVar variants found in the AVP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
20-3082650-C-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Nov 01, 2022)
20-3082651-G-A			Likely benign (May 09, 2022)
20-3082658-A-C		Inborn genetic diseases	Uncertain significance (Jun 01, 2023)
20-3082667-G-A			Uncertain significance (Sep 08, 2022)
20-3082668-G-A			Uncertain significance (Jan 29, 2024)
20-3082691-C-G			Uncertain significance (Apr 04, 2022)
20-3082692-G-T			Likely benign (May 25, 2022)
20-3082703-G-A			Uncertain significance (Aug 19, 2023)
20-3082707-C-T		Inborn genetic diseases	Uncertain significance (Dec 19, 2023)
20-3082716-C-T		Inborn genetic diseases	Uncertain significance (Nov 09, 2023)
20-3082722-G-A			Likely benign (Jul 17, 2023)
20-3082746-T-C			Uncertain significance (Nov 15, 2023)
20-3082757-C-T		Inborn genetic diseases	Uncertain significance (Nov 15, 2023)
20-3082760-C-T			Benign (Oct 06, 2023)
20-3082762-G-A			Likely benign (Jan 24, 2024)
20-3082764-G-A			Likely benign (Jun 01, 2022)
20-3082772-T-A		Inborn genetic diseases	Uncertain significance (Jun 07, 2023)
20-3082772-T-G		Inborn genetic diseases	Uncertain significance (Dec 13, 2022)
20-3082778-C-T		Neurohypophyseal diabetes insipidus	Pathogenic (Feb 02, 2022)
20-3082779-A-C		Neurohypophyseal diabetes insipidus	Pathogenic (Jul 01, 2001)
20-3082788-C-A		Neurohypophyseal diabetes insipidus	Pathogenic (Mar 01, 1998)
20-3082788-C-T			Uncertain significance (Mar 20, 2023)
20-3082790-G-A		Inborn genetic diseases	Uncertain significance (Sep 29, 2022)
20-3082796-C-T		Diabetes insipidus • Neurohypophyseal diabetes insipidus	Conflicting classifications of pathogenicity (Mar 25, 2022)
20-3082797-A-T		Neurohypophyseal diabetes insipidus	Likely pathogenic (Oct 05, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AVP	protein_coding	protein_coding	ENST00000380293	3	2169

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0744	0.759	125584	0	6	125590	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	40	63.7	0.628	0.00000351	1025
Missense in Polyphen		10	27.371	0.36534		352
Synonymous	0.468	27	30.3	0.892	0.00000204	330
Loss of Function	0.981	2	4.16	0.481	1.78e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000440	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Neurophysin 2 specifically binds vasopressin.
• Disease: DISEASE: Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]: A disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood. {ECO:0000269|PubMed:10369876, ECO:0000269|PubMed:10487710, ECO:0000269|PubMed:10677561, ECO:0000269|PubMed:11017955, ECO:0000269|PubMed:11150885, ECO:0000269|PubMed:11161827, ECO:0000269|PubMed:11443218, ECO:0000269|PubMed:11748489, ECO:0000269|PubMed:11980620, ECO:0000269|PubMed:12012274, ECO:0000269|PubMed:12107248, ECO:0000269|PubMed:12359138, ECO:0000269|PubMed:12519420, ECO:0000269|PubMed:12931042, ECO:0000269|PubMed:14510916, ECO:0000269|PubMed:14673472, ECO:0000269|PubMed:15538939, ECO:0000269|PubMed:1740104, ECO:0000269|PubMed:7714110, ECO:0000269|PubMed:8045958, ECO:0000269|PubMed:8103767, ECO:0000269|PubMed:8370682, ECO:0000269|PubMed:8514868, ECO:0000269|PubMed:8554046, ECO:0000269|PubMed:9360520, ECO:0000269|PubMed:9580132, ECO:0000269|PubMed:9814475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Vasopressin-regulated water reabsorption - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);BMAL1-CLOCK,NPAS2 activates circadian gene expression;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Signaling by GPCR;Signal Transduction;Circadian Clock;Vesicle-mediated transport;Membrane Trafficking;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;BMAL1:CLOCK,NPAS2 activates circadian gene expression;G alpha (s) signalling events;Vasopressin-like receptors;Peptide ligand-binding receptors;Transport of vitamins, nucleosides, and related molecules;SLC-mediated transmembrane transport;Transport of small molecules;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Clathrin-mediated endocytosis;control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk);Cargo recognition for clathrin-mediated endocytosis;GPCR signaling-G alpha i;Vasopressin regulates renal water homeostasis via Aquaporins;Aquaporin-mediated transport;Transport of organic anions;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Haploinsufficiency Scores

• pHI: 0.329
• hipred: N
• hipred_score: 0.392
• ghis: 0.414

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.585

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Avp
• Phenotype: homeostasis/metabolism phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal 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)

Gene ontology

• Biological process: maternal aggressive behavior;positive regulation of systemic arterial blood pressure;renal water homeostasis;generation of precursor metabolites and energy;water transport;apoptotic process;signal transduction;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;cell-cell signaling;negative regulation of female receptivity;grooming behavior;locomotory behavior;positive regulation of cell population proliferation;regulation of signaling receptor activity;positive regulation of gene expression;positive regulation of glutamate secretion;positive regulation of cell growth;positive regulation of prostaglandin biosynthetic process;positive regulation of cellular pH reduction;positive regulation of peptidyl-serine phosphorylation;response to testosterone;response to nicotine;social behavior;regulation of renal sodium excretion;vasoconstriction;hyperosmotic salinity response;maternal behavior;negative regulation of apoptotic process;penile erection;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;response to ethanol;positive regulation of vasoconstriction;negative regulation of transmission of nerve impulse;membrane organization;ERK1 and ERK2 cascade;protein kinase C signaling;negative regulation of release of cytochrome c from mitochondria
• Cellular component: extracellular region;extracellular space;cytosol;secretory granule;dendrite;clathrin-coated vesicle membrane
• Molecular function: protein kinase activity;signaling receptor binding;neuropeptide hormone activity;neurohypophyseal hormone activity;V1A vasopressin receptor binding;V1B vasopressin receptor binding;cysteine-type endopeptidase inhibitor activity involved in apoptotic process