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P01185 (NEU2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 157. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Vasopressin-neurophysin 2-copeptin
Alternative name(s):
AVP-NPII

Cleaved into the following 3 chains:

  1. Arg-vasopressin
    Alternative name(s):
    Arginine-vasopressin
  2. Neurophysin 2
    Alternative name(s):
    Neurophysin-II
  3. Copeptin
Gene names
Name:AVP
Synonyms:ARVP, VP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length164 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Neurophysin 2 specifically binds vasopressin.

Vasopressin has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vessels.

Subcellular location

Secreted.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36

Sequence similarities

Belongs to the vasopressin/oxytocin family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DiseaseDiabetes insipidus
Disease mutation
   DomainSignal
   Molecular functionHormone
Vasoactive
Vasoconstrictor
   PTMAmidation
Cleavage on pair of basic residues
Disulfide bond
Glycoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processERK1 and ERK2 cascade

Inferred from direct assay PubMed 18402937. Source: UniProtKB

cell-cell signaling

Traceable author statement Ref.4. Source: ProtInc

generation of precursor metabolites and energy

Traceable author statement Ref.4. Source: ProtInc

grooming behavior

Inferred from electronic annotation. Source: Ensembl

hyperosmotic salinity response

Inferred from electronic annotation. Source: Ensembl

locomotory behavior

Inferred from electronic annotation. Source: Ensembl

maternal aggressive behavior

Inferred from electronic annotation. Source: Ensembl

maternal behavior

Inferred from electronic annotation. Source: Ensembl

multicellular organismal water homeostasis

Inferred from electronic annotation. Source: Ensembl

negative regulation of apoptotic process

Inferred from direct assay PubMed 18402937. Source: UniProtKB

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

Inferred from direct assay PubMed 18402937. Source: UniProtKB

negative regulation of female receptivity

Inferred from electronic annotation. Source: Ensembl

negative regulation of release of cytochrome c from mitochondria

Inferred from direct assay PubMed 18402937. Source: UniProtKB

negative regulation of transmission of nerve impulse

Inferred from electronic annotation. Source: Ensembl

penile erection

Inferred from electronic annotation. Source: Ensembl

positive regulation of cAMP biosynthetic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell growth

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of cellular pH reduction

Inferred from electronic annotation. Source: Ensembl

positive regulation of cytosolic calcium ion concentration

Inferred from electronic annotation. Source: Ensembl

positive regulation of gene expression

Inferred from direct assay PubMed 18538351. Source: UniProtKB

positive regulation of glutamate secretion

Inferred from electronic annotation. Source: Ensembl

positive regulation of peptidyl-serine phosphorylation

Inferred from direct assay PubMed 18402937. Source: UniProtKB

positive regulation of prostaglandin biosynthetic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of systemic arterial blood pressure

Inferred from electronic annotation. Source: Ensembl

positive regulation of vasoconstriction

Inferred from electronic annotation. Source: Ensembl

protein kinase C signaling

Inferred from direct assay PubMed 18402937. Source: UniProtKB

protein phosphorylation

Inferred from direct assay PubMed 18402937. Source: GOC

regulation of renal sodium excretion

Inferred from electronic annotation. Source: Ensembl

response to ethanol

Inferred from electronic annotation. Source: Ensembl

response to nicotine

Inferred from electronic annotation. Source: Ensembl

response to testosterone

Inferred from electronic annotation. Source: Ensembl

signal transduction

Inferred from direct assay PubMed 18402937. Source: UniProtKB

social behavior

Inferred from electronic annotation. Source: Ensembl

sodium-independent organic anion transport

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

vasoconstriction

Inferred from electronic annotation. Source: UniProtKB-KW

water transport

Traceable author statement. Source: Reactome

   Cellular_componentcytosol

Traceable author statement. Source: Reactome

dendrite

Inferred from electronic annotation. Source: Ensembl

extracellular region

Traceable author statement. Source: Reactome

extracellular space

Inferred from electronic annotation. Source: Ensembl

secretory granule

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionV1A vasopressin receptor binding

Inferred from physical interaction PubMed 18402937. Source: UniProtKB

cysteine-type endopeptidase inhibitor activity involved in apoptotic process

Inferred from direct assay PubMed 18402937. Source: UniProtKB

neuropeptide hormone activity

Traceable author statement Ref.4. Source: ProtInc

protein kinase activity

Inferred from direct assay PubMed 18402937. Source: UniProtKB

receptor binding

Traceable author statement Ref.4PubMed 8794883. Source: ProtInc

signal transducer activity

Inferred from direct assay PubMed 18402937. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Ref.8
Peptide20 – 289Arg-vasopressin Ref.8
PRO_0000020515
Chain32 – 12493Neurophysin 2
PRO_0000020516
Peptide126 – 16439Copeptin Ref.10
PRO_0000020517

Amino acid modifications

Modified residue281Glycine amide
Glycosylation1311N-linked (GlcNAc...)
Disulfide bond20 ↔ 25 Ref.10
Disulfide bond41 ↔ 85 By similarity
Disulfide bond44 ↔ 58 By similarity
Disulfide bond52 ↔ 75 By similarity
Disulfide bond59 ↔ 65 By similarity
Disulfide bond92 ↔ 104 By similarity
Disulfide bond98 ↔ 116 By similarity
Disulfide bond105 ↔ 110 By similarity

Natural variations

Natural variant171S → F in NDI. Ref.16
VAR_004980
Natural variant191A → T in NDI; probably causes insufficient processing of precursor. Ref.11 Ref.13 Ref.16 Ref.18 Ref.32 Ref.36
VAR_004981
Natural variant191A → V in NDI. Ref.16 Ref.36
VAR_004982
Natural variant211Y → H in NDI. Ref.30
VAR_015262
Natural variant261P → L in NDI; weakly active. Ref.20
VAR_015263
Natural variant451G → R in NDI. Ref.16
VAR_004983
Natural variant481G → V in NDI. Ref.4
VAR_004984
Natural variant511R → C in NDI. Ref.16
VAR_004985
Natural variant521C → R in NDI.
VAR_015264
Natural variant541G → R in NDI. Ref.21 Ref.28 Ref.36
VAR_015265
Natural variant541G → V in NDI. Ref.17
VAR_015266
Natural variant551P → L in NDI. Ref.14
VAR_004986
Natural variant581C → F in NDI. Ref.34
VAR_029997
Natural variant591C → R in NDI.
VAR_015267
Natural variant591C → Y in NDI. Ref.23
VAR_015268
Natural variant671V → A in NDI. Ref.36
Corresponds to variant rs28934878 [ dbSNP | Ensembl ].
VAR_019273
Natural variant781E → G in NDI. Ref.16 Ref.36
VAR_004988
Natural variant781Missing in NDI. Ref.12 Ref.36
VAR_004987
Natural variant811L → P in NDI. Ref.16
VAR_004989
Natural variant821P → L.
Corresponds to variant rs5195 [ dbSNP | Ensembl ].
VAR_011894
Natural variant871S → F in NDI. Ref.19
VAR_015269
Natural variant881G → R in NDI. Ref.16
VAR_004990
Natural variant881G → S in NDI. Ref.16
VAR_004991
Natural variant921C → S in NDI. Ref.16 Ref.29
VAR_004992
Natural variant921C → Y in NDI. Ref.19 Ref.28
VAR_015270
Natural variant931G → W in NDI. Ref.15
VAR_004993
Natural variant961G → C in NDI. Ref.16 Ref.36
VAR_004994
Natural variant961G → D in NDI. Ref.36
VAR_019274
Natural variant961G → V in NDI.
VAR_015271
Natural variant971R → C in NDI.
VAR_015272
Natural variant971R → P in NDI. Ref.25
VAR_015273
Natural variant981C → G in NDI. Ref.27
VAR_015274
Natural variant981C → S in NDI. Ref.35
VAR_029998
Natural variant991A → P in NDI. Ref.33
VAR_029999
Natural variant1041C → F in NDI. Ref.31
VAR_015275
Natural variant1041C → G in NDI. Ref.36
VAR_019275
Natural variant1051C → R in NDI. Ref.28
VAR_015276
Natural variant1051C → Y in NDI. Ref.24
VAR_015279
Natural variant1161C → G in NDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle. Ref.22 Ref.26
VAR_015277
Natural variant1161C → R in NDI. Ref.22
VAR_015278
Natural variant1161C → W in NDI. Ref.36
VAR_019276
Natural variant1191G → V. Ref.5
Corresponds to variant rs1051744 [ dbSNP | Ensembl ].
VAR_011895

Experimental info

Sequence conflict111L → P in AAA98772. Ref.1
Sequence conflict481G → D in AAB86629. Ref.5

Sequences

Sequence LengthMass (Da)Tools
P01185 [UniParc].

Last modified August 1, 1992. Version 2.
Checksum: 8F5EF9834700B9AE

FASTA16417,325
        10         20         30         40         50         60 
MPDTMLPACF LGLLAFSSAC YFQNCPRGGK RAMSDLELRQ CLPCGPGGKG RCFGPSICCA 

        70         80         90        100        110        120 
DELGCFVGTA EALRCQEENY LPSPCQSGQK ACGSGGRCAA FGVCCNDESC VTEPECREGF 

       130        140        150        160 
HRRARASDRS NATQLDGPAG ALLLRLVQLA GAPEPFEPAQ PDAY 

« Hide

References

« Hide 'large scale' references
[1]"The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line."
Sausville E., Carney D., Battey J.
J. Biol. Chem. 260:10236-10241(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"The neurohypophyseal hormones vasopressin and oxytocin. Precursor structure, synthesis and regulation."
Rehbein M., Hillers M., Mohr E., Ivell R., Morley S., Schmale H., Richter D.
Biol. Chem. Hoppe-Seyler 367:695-704(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]"Expression of the vasopressin and oxytocin genes in human hypothalami."
Mohr E., Hillers M., Ivell R., Haulica I.D., Richter D.
FEBS Lett. 193:12-16(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]"A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus."
Bahnsen U., Oosting P., Swaab D.F., Nahke P., Richter D., Schmale H.
EMBO J. 11:19-23(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT NDI VAL-48.
[5]"A missense mutation in the vasopressin mRNA with human small-cell lung carcinoma."
Du J., North W.G.
Submitted (OCT-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-119.
Tissue: Lung carcinoma.
[6]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]"On the nature of oxytocin and vasopressin from human pituitary."
Light A., du Vigneaud V.
Proc. Soc. Exp. Biol. Med. 98:692-696(1958) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 20-28.
[9]"Identification of human neurophysins: complete amino acid sequences of MSEL- and VLDV-neurophysins."
Chauvet M.-T., Hurpet D., Chauvet J., Acher R.
Proc. Natl. Acad. Sci. U.S.A. 80:2839-2843(1983) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 32-124.
[10]"The complete sequence of a novel human pituitary glycopeptide homologous to pig posterior pituitary glycopeptide."
Seidah N.G., Benjannet S., Chretien M.
Biochem. Biophys. Res. Commun. 100:901-907(1981) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 126-164.
[11]"Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation."
McLeod J.F., Kovacs L., Gaskill M.B., Rittig S., Bradley G.S., Robertson G.L.
J. Clin. Endocrinol. Metab. 77:599A-599G(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI THR-19.
[12]"Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus."
Yuasa H., Ito M., Nagasaki H., Oiso Y., Miyamoto S., Sasaki N., Saito H.
J. Clin. Endocrinol. Metab. 77:600-604(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI GLU-78 DEL.
[13]"Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus."
Ito M., Oiso Y., Murase T., Kondo K., Saito H., Chinzei T., Racchi M., Lively M.O.
J. Clin. Invest. 91:2565-2571(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI THR-19.
[14]"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."
Repaske D.R., Browning J.E.
J. Clin. Endocrinol. Metab. 79:421-427(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI LEU-55.
[15]"Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus."
Nagasaki H., Ito M., Yuasa H., Saito H., Fukase M., Hamada K., Ishikawa E., Katakami H., Oiso Y.
J. Clin. Endocrinol. Metab. 80:1352-1356(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI TRP-93.
[16]"Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus."
Rittig S., Robertson G.L., Siggaard C., Kovacs L., Gregersen N., Nyborg J., Pedersen E.B.
Am. J. Hum. Genet. 58:107-117(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NDI PHE-17; THR-19; VAL-19; ARG-45; CYS-51; GLY-78; PRO-81; ARG-88; SER-88; SER-92 AND CYS-96.
[17]"Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II."
Gagliardi P.C., Bernasconi S., Repaske D.R.
J. Clin. Endocrinol. Metab. 82:3643-3646(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI VAL-54.
[18]"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."
Calvo B., Bilbao J.R., Urrutia I., Eizaguirre J., Gaztambide S., Castano L.
J. Clin. Endocrinol. Metab. 83:995-997(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI THR-19.
[19]"Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant."
Grant F.D., Ahmadi A., Hosley C.M., Majzoub J.A.
J. Clin. Endocrinol. Metab. 83:3958-3964(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NDI PHE-87 AND TYR-92.
[20]"Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin."
Willcutts M.D., Felner E., White P.C.
Hum. Mol. Genet. 8:1303-1307(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI LEU-26.
[21]"Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier."
Calvo B., Bilbao J.R., Rodriguez A., Rodriguez-Arnao M.D., Castano L.
J. Clin. Endocrinol. Metab. 84:3351-3354(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI ARG-54.
[22]"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."
Abbes A.P., Bruggeman B., van den Akker E.L.T., de Groot M.R., Franken A.A.M., Drexhage V.R., Engel H.
Clin. Chem. 46:1699-1702(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NDI ARG-116 AND GLY-116.
[23]"A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes."
Skordis N., Patsalis P.C., Hettinger J.A., Kontou M., Herakleous E., Krishnamani M.R., Phillips J.A. III
Horm. Res. 53:239-245(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI TYR-59.
[24]"Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene."
Fujii H., Iida S., Moriwaki K.
Int. J. Mol. Med. 5:229-234(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI TYR-105.
[25]"A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus."
Mundschenk J., Rittig S., Siggaard C., Hensen J., Lehnert H.
Exp. Clin. Endocrinol. Diabetes 109:406-409(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI PRO-97.
[26]"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."
Nijenhuis M., van den Akker E.L.T., Zalm R., Franken A.A.M., Abbes A.P., Engel H., de Wied D., Burbach J.P.H.
J. Clin. Endocrinol. Metab. 86:3410-3420(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI GLY-116, CHARACTERIZATION OF VARIANT NDI GLY-116.
[27]"A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus."
DiMeglio L.A., Gagliardi P.C., Browning J.E., Quigley C.A., Repaske D.R.
Mol. Genet. Metab. 72:39-44(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI GLY-98.
[28]"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."
Rutishauser J., Kopp P., Gaskill M.B., Kotlar T.J., Robertson G.L.
Eur. J. Endocrinol. 146:649-656(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NDI ARG-54; TYR-92 AND ARG-105.
[29]"Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus."
Bullmann C., Kotzka J., Grimm T., Heppner C., Jockenhovel F., Krone W., Muller-Wieland D.
Exp. Clin. Endocrinol. Diabetes 110:134-137(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI SER-92.
[30]"Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine-2 in the vasopressin moiety of the hormone precursor."
Rittig S., Siggaard C., Ozata M., Yetkin I., Gregersen N., Pedersen E.B., Robertson G.L.
J. Clin. Endocrinol. Metab. 87:3351-3355(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI HIS-21.
[31]"A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus."
Santiprabhob J., Browning J.E., Repaske D.R.
Mol. Genet. Metab. 77:112-118(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI PHE-104.
[32]"A signal peptide mutation of the arginine vasopressin gene in monozygotic twins."
Boson W.L., Sarubi J.C., D'Alva C.B., Friedman E., Faria D., De Marco L., Wajchenberg B.
Clin. Endocrinol. (Oxf.) 58:108-110(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI THR-19.
[33]"Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene."
Elias P.C.L., Elias L.L.K., Torres N., Moreira A.C., Antunes-Rodrigues J., Castro M.
Clin. Endocrinol. (Oxf.) 59:511-518(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI PRO-99.
[34]"A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus."
Wolf M.T.F., Doetsch J., Metzler M., Holder M., Repp R., Rascher W.
Horm. Res. 60:143-147(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI PHE-58.
[35]"Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety."
Baglioni S., Corona G., Maggi M., Serio M., Peri A.
Eur. J. Endocrinol. 151:605-611(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NDI SER-98.
[36]"Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis."
Christensen J.H., Siggaard C., Corydon T.J., deSanctis L., Kovacs L., Robertson G.L., Gregersen N., Rittig S.
Eur. J. Hum. Genet. 12:44-51(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NDI THR-19; VAL-19; ARG-54; ALA-67; GLY-78; GLU-78 DEL; ASP-96; CYS-96; GLY-104 AND TRP-116.
+Additional computationally mapped references.

Web resources

GeneReviews
Wikipedia

Vasopressin entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M11166 Genomic DNA. Translation: AAA98772.1.
M25647 mRNA. Translation: AAA61291.1.
X03172 mRNA. Translation: CAA26935.1.
X62890 Genomic DNA. Translation: CAA44681.1.
AF031476 mRNA. Translation: AAB86629.1.
AL160414 Genomic DNA. Translation: CAC10205.1.
X62891 Genomic DNA. Translation: CAA44682.1.
BC126196 mRNA. Translation: AAI26197.1.
BC126224 mRNA. Translation: AAI26225.1.
PIRA39269.
NVHU2. B94676.
RefSeqNP_000481.2. NM_000490.4.
UniGeneHs.89648.

3D structure databases

ProteinModelPortalP01185.
SMRP01185. Positions 32-116.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107032. 5 interactions.
IntActP01185. 1 interaction.
STRING9606.ENSP00000369647.

Polymorphism databases

DMDM128083.

Proteomic databases

PaxDbP01185.
PRIDEP01185.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000380293; ENSP00000369647; ENSG00000101200.
GeneID551.
KEGGhsa:551.
UCSCuc002whu.3. human.

Organism-specific databases

CTD551.
GeneCardsGC20M003063.
HGNCHGNC:894. AVP.
MIM125700. phenotype.
192340. gene.
neXtProtNX_P01185.
Orphanet30925. Hereditary central diabetes insipidus.
PharmGKBPA25186.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44533.
HOGENOMHOG000113768.
HOVERGENHBG004462.
KOK05242.
OMAPECREGF.
OrthoDBEOG7NW6C5.
PhylomeDBP01185.
TreeFamTF333018.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_15518. Transmembrane transport of small molecules.
REACT_24941. Circadian Clock.

Gene expression databases

ArrayExpressP01185.
BgeeP01185.
CleanExHS_AVP.
GenevestigatorP01185.

Family and domain databases

Gene3D2.60.9.10. 1 hit.
InterProIPR000981. Neurhyp_horm.
IPR022423. Neurohypophysial_hormone_CS.
[Graphical view]
PANTHERPTHR11681. PTHR11681. 1 hit.
PfamPF00220. Hormone_4. 1 hit.
PF00184. Hormone_5. 1 hit.
[Graphical view]
PIRSFPIRSF001815. Nonapeptide_hormone_precursor. 1 hit.
PRINTSPR00831. NEUROPHYSIN.
ProDomPD001676. Neurhyp_horm. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00003. NH. 1 hit.
[Graphical view]
SUPFAMSSF49606. SSF49606. 1 hit.
PROSITEPS00264. NEUROHYPOPHYS_HORM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiVasopressin.
GenomeRNAi551.
NextBio2277.
PMAP-CutDBP01185.
PROP01185.
SOURCESearch...

Entry information

Entry nameNEU2_HUMAN
AccessionPrimary (citable) accession number: P01185
Secondary accession number(s): A0AV35, O14935
Entry history
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: August 1, 1992
Last modified: April 16, 2014
This is version 157 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM