Details for: AVP

Gene ID: 551

Symbol: AVP

Ensembl ID: ENSG00000101200

Description: arginine vasopressin

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.16
    Marker Score: 3181
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.62
    Marker Score: 10795
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.62
    Marker Score: 1176
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.55
    Marker Score: 1644
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.51
    Marker Score: 1507
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.25
    Marker Score: 7561.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 1.22
    Marker Score: 3640
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4826
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.1
    Marker Score: 800
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 1.06
    Marker Score: 32732
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 802
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.05
    Marker Score: 663.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71839
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48064
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 1
    Marker Score: 752
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 512
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 465
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.97
    Marker Score: 659.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 377
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5330
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.88
    Marker Score: 364.5
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.85
    Marker Score: 388.5
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.81
    Marker Score: 737
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.75
    Marker Score: 1215
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.65
    Marker Score: 997
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.56
    Marker Score: 357
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.56
    Marker Score: 8713
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 436
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.51
    Marker Score: 271
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 279
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.46
    Marker Score: 280.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.46
    Marker Score: 1617
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.39
    Marker Score: 739
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.38
    Marker Score: 159.5
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.37
    Marker Score: 750
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.35
    Marker Score: 110
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.3
    Marker Score: 303.5
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.29
    Marker Score: 103
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.28
    Marker Score: 587
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.25
    Marker Score: 168
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.21
    Marker Score: 128
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.19
    Marker Score: 90
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.17
    Marker Score: 60
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.15
    Marker Score: 352
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.14
    Marker Score: 236
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.13
    Marker Score: 33
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.11
    Marker Score: 77
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.11
    Marker Score: 450.5
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.11
    Marker Score: 70
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.1
    Marker Score: 27
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.1
    Marker Score: 52.5
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.1
    Marker Score: 47
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1
    Marker Score: 195
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.1
    Marker Score: 63
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.09
    Marker Score: 32
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.09
    Marker Score: 90
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.09
    Marker Score: 60
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.09
    Marker Score: 39
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.09
    Marker Score: 51
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.09
    Marker Score: 142
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.09
    Marker Score: 126
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.08
    Marker Score: 168
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.08
    Marker Score: 39
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.08
    Marker Score: 73.5
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.07
    Marker Score: 114
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.07
    Marker Score: 23
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.05
    Marker Score: 57
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.05
    Marker Score: 69
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.05
    Marker Score: 64
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.05
    Marker Score: 70
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.05
    Marker Score: 71
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.05
    Marker Score: 14
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.05
    Marker Score: 441
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.05
    Marker Score: 21
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.05
    Marker Score: 17
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.05
    Marker Score: 11
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 0.04
    Marker Score: 30
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.04
    Marker Score: 11
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.04
    Marker Score: 11
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.04
    Marker Score: 11
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.04
    Marker Score: 269
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.04
    Marker Score: 23
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.04
    Marker Score: 51
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.04
    Marker Score: 10
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.04
    Marker Score: 115
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.03
    Marker Score: 141
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.03
    Marker Score: 11
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.03
    Marker Score: 11
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.03
    Marker Score: 40
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.03
    Marker Score: 36

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Other Information

**Key characteristics:** - AVP is a member of the aquaporin family of water channel proteins. - It is expressed in high levels in blood vessel endothelial cells, goblet cells, and kidney epithelial cells. - It is a key regulator of renal water balance and blood pressure. - AVP is a key regulator of circadian rhythm. **Pathways and functions:** - AVP regulates water balance by controlling the movement of water across cell membranes. - It is involved in the regulation of blood pressure and volume. - AVP also plays a role in the regulation of hydration and metabolism. - It is involved in the regulation of the circadian clock. **Clinical significance:** - Mutations in the AVP gene have been linked to a number of human diseases, including diabetes, hypertension, and polycystic kidney disease. - AVP is a potential therapeutic target for these diseases. **Conclusion:** The AVP gene is an important regulator of renal water homeostasis and blood pressure. Mutations in the AVP gene can lead to a number of human diseases, highlighting its critical role in maintaining homeostasis in the body.

Genular Protein ID: 1447799280

Symbol: NEU2_HUMAN

Name: Vasopressin-neurophysin 2-copeptin

UniProtKB Accession Codes:

P01185 A0AV35 O14935

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EMDB 3 Ensembl 1 ExpressionAtlas 1 GO 46 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 2 PIRSF 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 10 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2991279

Title: The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line.

PubMed ID: 2991279

DOI: 10.1016/s0021-9258(17)39236-0

PubMed ID: 3768139

Title: The neurohypophyseal hormones vasopressin and oxytocin. Precursor structure, synthesis and regulation.

PubMed ID: 3768139

DOI: 10.1515/bchm3.1986.367.2.695

PubMed ID: 4065330

Title: Expression of the vasopressin and oxytocin genes in human hypothalami.

PubMed ID: 4065330

DOI: 10.1016/0014-5793(85)80069-7

PubMed ID: 1740104

Title: A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.

PubMed ID: 1740104

DOI: 10.1002/j.1460-2075.1992.tb05022.x

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 13591312

Title: On the nature of oxytocin and vasopressin from human pituitary.

PubMed ID: 13591312

DOI: 10.3181/00379727-98-24154

PubMed ID: 6574452

Title: Identification of human neurophysins: complete amino acid sequences of MSEL- and VLDV-neurophysins.

PubMed ID: 6574452

DOI: 10.1073/pnas.80.10.2839

PubMed ID: 7271787

Title: The complete sequence of a novel human pituitary glycopeptide homologous to pig posterior pituitary glycopeptide.

PubMed ID: 7271787

DOI: 10.1016/s0006-291x(81)80258-6

PubMed ID: 33713620

Title: Soluble ACE2-mediated cell entry of SARS-CoV-2 via interaction with proteins related to the renin-angiotensin system.

PubMed ID: 33713620

DOI: 10.1016/j.cell.2021.02.053

PubMed ID: 8370682

Title: Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation.

PubMed ID: 8370682

DOI: 10.1210/jcem.77.3.8370682

PubMed ID: 8103767

Title: Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus.

PubMed ID: 8103767

DOI: 10.1210/jcem.77.3.8103767

PubMed ID: 8514868

Title: Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.

PubMed ID: 8514868

DOI: 10.1172/jci116494

PubMed ID: 8045958

Title: A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus.

PubMed ID: 8045958

DOI: 10.1210/jcem.79.2.8045958

PubMed ID: 7714110

Title: Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.

PubMed ID: 7714110

DOI: 10.1210/jcem.80.4.7714110

PubMed ID: 8554046

Title: Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.

PubMed ID: 8554046

PubMed ID: 9360520

Title: Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II.

PubMed ID: 9360520

DOI: 10.1210/jcem.82.11.4231

PubMed ID: 9580132

Title: Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus.

PubMed ID: 9580132

DOI: 10.1210/jcem.83.3.4658

PubMed ID: 9814475

Title: Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant.

PubMed ID: 9814475

DOI: 10.1210/jcem.83.11.5278

PubMed ID: 10369876

Title: Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.

PubMed ID: 10369876

DOI: 10.1093/hmg/8.7.1303

PubMed ID: 10487710

Title: Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier.

PubMed ID: 10487710

DOI: 10.1210/jcem.84.9.5979

PubMed ID: 11017955

Title: Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two Dutch families with familial neurohypophyseal diabetes insipidus.

PubMed ID: 11017955

PubMed ID: 11150885

Title: A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.

PubMed ID: 11150885

DOI: 10.1159/000023573

PubMed ID: 10677561

Title: Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene.

PubMed ID: 10677561

DOI: 10.3892/ijmm.5.3.229

PubMed ID: 11748489

Title: A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus.

PubMed ID: 11748489

DOI: 10.1055/s-2001-18994

PubMed ID: 11443218

Title: Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone.

PubMed ID: 11443218

DOI: 10.1210/jcem.86.7.7686

PubMed ID: 11161827

Title: A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus.

PubMed ID: 11161827

DOI: 10.1006/mgme.2000.3117

PubMed ID: 11980620

Title: Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene.

PubMed ID: 11980620

DOI: 10.1530/eje.0.1460649

PubMed ID: 12012274

Title: Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus.

PubMed ID: 12012274

DOI: 10.1055/s-2002-29091

PubMed ID: 12107248

Title: Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine-2 in the vasopressin moiety of the hormone precursor.

PubMed ID: 12107248

DOI: 10.1210/jcem.87.7.8677

PubMed ID: 12359138

Title: A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus.

PubMed ID: 12359138

DOI: 10.1016/s1096-7192(02)00118-x

PubMed ID: 12519420

Title: A signal peptide mutation of the arginine vasopressin gene in monozygotic twins.

PubMed ID: 12519420

DOI: 10.1046/j.1365-2265.2003.01667.x

PubMed ID: 14510916

Title: Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene.

PubMed ID: 14510916

DOI: 10.1046/j.1365-2265.2003.01834.x

PubMed ID: 12931042

Title: A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus.

PubMed ID: 12931042

DOI: 10.1159/000072526

PubMed ID: 15538939

Title: Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety.

PubMed ID: 15538939

DOI: 10.1530/eje.0.1510605

PubMed ID: 14673472

Title: Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.

PubMed ID: 14673472

DOI: 10.1038/sj.ejhg.5201086

PubMed ID: 18174156

Title: Conopressin-T from Conus tulipa reveals an antagonist switch in vasopressin-like peptides.

PubMed ID: 18174156

DOI: 10.1074/jbc.m706477200

Sequence Information:

  • Length: 164
  • Mass: 17325
  • Checksum: 8F5EF9834700B9AE
  • Sequence:
    • MPDTMLPACF LGLLAFSSAC YFQNCPRGGK RAMSDLELRQ CLPCGPGGKG RCFGPSICCA 
DELGCFVGTA EALRCQEENY LPSPCQSGQK ACGSGGRCAA FGVCCNDESC VTEPECREGF 
HRRARASDRS NATQLDGPAG ALLLRLVQLA GAPEPFEPAQ PDAY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.