P01185 (NEU2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	164 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 vasopression 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 component	Secreted
Coding sequence diversity	Polymorphism
Disease	Diabetes insipidus Disease mutation
Domain	Signal
Molecular function	Hormone Vasoactive Vasoconstrictor
PTM	Amidation Cleavage on pair of basic residues Disulfide bond Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	ERK1 and ERK2 cascade Inferred from direct assay PubMed 18402937. Source: UniProtKB cell-cell signaling Traceable author statement Ref.4. Source: ProtInc elevation of cytosolic calcium ion concentration Inferred from electronic annotation. Source: Compara generation of precursor metabolites and energy Traceable author statement Ref.4. Source: ProtInc grooming behavior Inferred from electronic annotation. Source: Compara hyperosmotic salinity response Inferred from electronic annotation. Source: Compara locomotory behavior Inferred from electronic annotation. Source: Compara maternal aggressive behavior Inferred from electronic annotation. Source: Compara maternal behavior Inferred from electronic annotation. Source: Compara multicellular organismal water homeostasis Inferred from electronic annotation. Source: Compara negative regulation of apoptotic process Inferred from direct assay PubMed 18402937. Source: UniProtKB negative regulation of female receptivity Inferred from electronic annotation. Source: Compara 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: Compara penile erection Inferred from electronic annotation. Source: Compara positive regulation of cAMP biosynthetic process Inferred from electronic annotation. Source: Compara positive regulation of cell growth Inferred from electronic annotation. Source: Compara positive regulation of cell proliferation Inferred from electronic annotation. Source: Compara positive regulation of cellular pH reduction Inferred from electronic annotation. Source: Compara positive regulation of gene expression Inferred from direct assay PubMed 18538351. Source: UniProtKB positive regulation of glutamate secretion Inferred from electronic annotation. Source: Compara 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: Compara positive regulation of systemic arterial blood pressure Inferred from electronic annotation. Source: Compara positive regulation of vasoconstriction Inferred from electronic annotation. Source: Compara protein kinase C signaling cascade Inferred from direct assay PubMed 18402937. Source: UniProtKB regulation of renal sodium excretion Inferred from electronic annotation. Source: Compara response to ethanol Inferred from electronic annotation. Source: Compara response to nicotine Inferred from electronic annotation. Source: Compara social behavior Inferred from electronic annotation. Source: Compara 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_component	cytosol Traceable author statement. Source: Reactome dendrite Inferred from electronic annotation. Source: Compara extracellular region Traceable author statement. Source: Reactome extracellular space Inferred from electronic annotation. Source: Compara secretory granule Inferred from electronic annotation. Source: Compara
Molecular_function	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 signal transducer activity Inferred from direct assay PubMed 18402937. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Ref.8
	Peptide	20 – 28	9	Arg-vasopressin Ref.8		PRO_0000020515
	Chain	32 – 124	93	Neurophysin 2		PRO_0000020516
	Peptide	126 – 164	39	Copeptin Ref.10		PRO_0000020517
Amino acid modifications
	Modified residue	28	1	Glycine amide
	Glycosylation	131	1	N-linked (GlcNAc...)
	Disulfide bond	20 ↔ 25		Ref.10
	Disulfide bond	41 ↔ 85		By similarity
	Disulfide bond	44 ↔ 58		By similarity
	Disulfide bond	52 ↔ 75		By similarity
	Disulfide bond	59 ↔ 65		By similarity
	Disulfide bond	92 ↔ 104		By similarity
	Disulfide bond	98 ↔ 116		By similarity
	Disulfide bond	105 ↔ 110		By similarity
Natural variations
	Natural variant	17	1	S → F in NDI. Ref.16		VAR_004980
	Natural variant	19	1	A → T in NDI; probably causes insufficient processing of precursor. Ref.11 Ref.13 Ref.16 Ref.18 Ref.32 Ref.36		VAR_004981
	Natural variant	19	1	A → V in NDI. Ref.16 Ref.36		VAR_004982
	Natural variant	21	1	Y → H in NDI. Ref.30		VAR_015262
	Natural variant	26	1	P → L in NDI; weakly active. Ref.20		VAR_015263
	Natural variant	45	1	G → R in NDI. Ref.16		VAR_004983
	Natural variant	48	1	G → V in NDI. Ref.4		VAR_004984
	Natural variant	51	1	R → C in NDI. Ref.16		VAR_004985
	Natural variant	52	1	C → R in NDI.		VAR_015264
	Natural variant	54	1	G → R in NDI. Ref.21 Ref.28 Ref.36		VAR_015265
	Natural variant	54	1	G → V in NDI. Ref.17		VAR_015266
	Natural variant	55	1	P → L in NDI. Ref.14		VAR_004986
	Natural variant	58	1	C → F in NDI. Ref.34		VAR_029997
	Natural variant	59	1	C → R in NDI.		VAR_015267
	Natural variant	59	1	C → Y in NDI. Ref.23		VAR_015268
	Natural variant	67	1	V → A in NDI. Ref.36 Corresponds to variant rs28934878 [ dbSNP | Ensembl ].		VAR_019273
	Natural variant	78	1	E → G in NDI. Ref.16 Ref.36		VAR_004988
	Natural variant	78	1	Missing in NDI. Ref.12 Ref.36		VAR_004987
	Natural variant	81	1	L → P in NDI. Ref.16		VAR_004989
	Natural variant	82	1	P → L. Corresponds to variant rs5195 [ dbSNP | Ensembl ].		VAR_011894
	Natural variant	87	1	S → F in NDI. Ref.19		VAR_015269
	Natural variant	88	1	G → R in NDI. Ref.16		VAR_004990
	Natural variant	88	1	G → S in NDI. Ref.16		VAR_004991
	Natural variant	92	1	C → S in NDI. Ref.16 Ref.29		VAR_004992
	Natural variant	92	1	C → Y in NDI. Ref.19 Ref.28		VAR_015270
	Natural variant	93	1	G → W in NDI. Ref.15		VAR_004993
	Natural variant	96	1	G → C in NDI. Ref.16 Ref.36		VAR_004994
	Natural variant	96	1	G → D in NDI. Ref.36		VAR_019274
	Natural variant	96	1	G → V in NDI.		VAR_015271
	Natural variant	97	1	R → C in NDI.		VAR_015272
	Natural variant	97	1	R → P in NDI. Ref.25		VAR_015273
	Natural variant	98	1	C → G in NDI. Ref.27		VAR_015274
	Natural variant	98	1	C → S in NDI. Ref.35		VAR_029998
	Natural variant	99	1	A → P in NDI. Ref.33		VAR_029999
	Natural variant	104	1	C → F in NDI. Ref.31		VAR_015275
	Natural variant	104	1	C → G in NDI. Ref.36		VAR_019275
	Natural variant	105	1	C → R in NDI. Ref.28		VAR_015276
	Natural variant	105	1	C → Y in NDI. Ref.24		VAR_015279
	Natural variant	116	1	C → G in NDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle. Ref.22 Ref.26		VAR_015277
	Natural variant	116	1	C → R in NDI. Ref.22		VAR_015278
	Natural variant	116	1	C → W in NDI. Ref.36		VAR_019276
	Natural variant	119	1	G → V. Ref.5 Corresponds to variant rs1051744 [ dbSNP | Ensembl ].		VAR_011895
Experimental info
	Sequence conflict	11	1	L → P in AAA98772. Ref.1
	Sequence conflict	48	1	G → D in AAB86629. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	P01185 [UniParc]. Last modified August 1, 1992. Version 2. Checksum: 8F5EF9834700B9AE	FASTA	164	17,325
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00873080.
PIR	A39269. NVHU2. B94676.
RefSeq	NP_000481.2. NM_000490.4.
UniGene	Hs.89648.
3D structure databases
ProteinModelPortal	P01185.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000369647.
Polymorphism databases
DMDM	128083.
Proteomic databases
PaxDb	P01185.
PRIDE	P01185.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000380293; ENSP00000369647; ENSG00000101200.
GeneID	551.
KEGG	hsa:551.
UCSC	uc002whu.3. human.
Organism-specific databases
CTD	551.
GeneCards	GC20M003063.
HGNC	HGNC:894. AVP.
MIM	125700. phenotype. 192340. gene.
neXtProt	NX_P01185.
Orphanet	30925. Non-acquired isolated central diabetes insipidus.
PharmGKB	PA25186.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG44533.
HOGENOM	HOG000113768.
HOVERGEN	HBG004462.
KO	K05242.
OMA	PECREGF.
OrthoDB	EOG451DS6.
PhylomeDB	P01185.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction. REACT_15518. Transmembrane transport of small molecules. REACT_24941. Circadian Clock.
Gene expression databases
ArrayExpress	P01185.
Bgee	P01185.
CleanEx	HS_AVP.
Genevestigator	P01185.
GermOnline	ENSG00000101200. Homo sapiens.
Family and domain databases
Gene3D	2.60.9.10. 1 hit.
InterPro	IPR000981. Neurhyp_horm. IPR022423. Neurohypophysial_hormone_CS. [Graphical view]
PANTHER	PTHR11681. PTHR11681. 1 hit.
Pfam	PF00220. Hormone_4. 1 hit. PF00184. Hormone_5. 1 hit. [Graphical view]
PIRSF	PIRSF001815. Nonapeptide_hormone_precursor. 1 hit.
PRINTS	PR00831. NEUROPHYSIN.
ProDom	PD001676. Neurhyp_horm. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00003. NH. 1 hit. [Graphical view]
SUPFAM	SSF49606. Neurhyp_horm. 1 hit.
PROSITE	PS00264. NEUROHYPOPHYS_HORM. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	551.
NextBio	2277.
PMAP-CutDB	P01185.
SOURCE	Search...

Entry information

Entry name

NEU2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 147 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.