P41181

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	AQP2_HUMAN; P41181;
Entrez ID	359
GenBank Protein ID
GenBank Nucleotide ID
Protein Name	Aquaporin-2 (AQP-2) (ADH water channel) (Aquaporin-CD) (AQP-CD) (Collecting duct water channel protein) (WCH-CD) (Water channel protein for renal collecting duct)
Gene Name	AQP2
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Functional Description Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.
Sequence (Fasta)	MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL GIGTLVQALG 60 HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG AALLHEITPA DIRGDLAVNA 120 LSNSTTAGQA VTVELFLTLQ LVLCIFASTD ERRGENPGTP ALSIGFSVAL GHLLGIHYTG 180 CSMNPARSLA PAVVTGKFDD HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL 240 EPDTDWEERE VRRRQSVELH SPQSLPRGTK A 272 Fasta Sequence >P41181\|AQP2\|Homo sapiens (Human) MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Nephrogenic diabetes insipidus		D	S256	16120822
1	[Reference]: Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
2	Serine Phosphorylation	Nephrogenic diabetes insipidus		C	S261	22778181
2	[Reference]: Phosphatase treatment revealed that the 30 kDa AQP2-P262L band was due to changed phosphorylation

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 2)	MESH:D009202 ; Cardiomyopathies MESH:D018500 ; Diabetes Insipidus, Nephrogenic
DisGeNet (Curated) (count: 32) (view all)	C0003123; Anorexia C0009806; Constipation C0014544; Epilepsy C0015967; Fever C0020488; Hypernatremia C0025362; Mental Retardation C0027498; Nausea and vomiting C0032617; Polyuria C0036572; Seizures C0042963; Vomiting C0085602; Polydipsia C0162283; Nephrogenic Diabetes Insipidus C0231246; Failure to gain weight C0232831; Impairment of urinary concentration C0237326; Dyschezia C0349588; Short stature C0423903; Low intelligence C0878544; Cardiomyopathies C0917816; Mental deficiency C1112601; Hypertonic dehydration C1563706; Nephrogenic Diabetes Insipidus, Type II C1843367; Poor school performance C1844662; Unexplained fevers C1850544; Hypernatremic dehydration C1855106; Neonatal onset C1855311; Megacystis C2315100; Pediatric failure to thrive C2674608; Feeding difficulties in infancy C2700617; Irritation - emotion C3714756; Intellectual Disability C4020876; Dull intelligence C4020899; Autosomal recessive predisposition
HGMD (count: 44) (view all)	CD941595; Diabetes insipidus, nephrogenic; Small deletions CD024654; Diabetes insipidus, nephrogenic; Small deletions CD034849; Diabetes insipidus, nephrogenic; Small deletions CD014628; Diabetes insipidus, nephrogenic; Small deletions CD014629; Diabetes insipidus, nephrogenic; Small deletions CD024169; Diabetes insipidus, nephrogenic; Small deletions CD983834; Diabetes insipidus, nephrogenic; Small deletions CI034768; Diabetes insipidus, nephrogenic; Small insertions CM086773; Diabetes insipidus, nephrogenic; Missense/nonsense CM970097; Diabetes insipidus, nephrogenic; Missense/nonsense CM024085; Diabetes insipidus, nephrogenic; Missense/nonsense CM086774; Diabetes insipidus, nephrogenic; Missense/nonsense CM024086; Diabetes insipidus, nephrogenic; Missense/nonsense CM021246; Diabetes insipidus, nephrogenic; Missense/nonsense CM940082; Diabetes insipidus, nephrogenic; Missense/nonsense CM970098; Diabetes insipidus, nephrogenic; Missense/nonsense CM056523; Diabetes insipidus, nephrogenic; Missense/nonsense CM950080; Diabetes insipidus, nephrogenic; Missense/nonsense CM972978; Diabetes insipidus, nephrogenic; Missense/nonsense CM062427; Diabetes insipidus, nephrogenic; Missense/nonsense CM970099; Diabetes insipidus, nephrogenic; Missense/nonsense CM021247; Diabetes insipidus, nephrogenic; Missense/nonsense CM980100; Diabetes insipidus, nephrogenic; Missense/nonsense CM970100; Diabetes insipidus, nephrogenic; Missense/nonsense CM970101; Diabetes insipidus, nephrogenic; Missense/nonsense CM071560; Diabetes insipidus, nephrogenic; Missense/nonsense CM973106; Diabetes insipidus, nephrogenic; Missense/nonsense CM980101; Diabetes insipidus, nephrogenic; Missense/nonsense CM062428; Diabetes insipidus, nephrogenic; Missense/nonsense CM970102; Diabetes insipidus, nephrogenic; Missense/nonsense CM950081; Diabetes insipidus, nephrogenic; Missense/nonsense CM940083; Diabetes insipidus, nephrogenic; Missense/nonsense CM056522; Diabetes insipidus, nephrogenic; Missense/nonsense CM950082; Diabetes insipidus, nephrogenic; Missense/nonsense CM024087; Diabetes insipidus, nephrogenic; Missense/nonsense CM087015; Diabetes insipidus, nephrogenic; Missense/nonsense CM960073; Diabetes insipidus, nephrogenic; Missense/nonsense CM071561; Diabetes insipidus, nephrogenic; Missense/nonsense CM940084; Diabetes insipidus, nephrogenic; Missense/nonsense CM056296; Diabetes insipidus, nephrogenic; Missense/nonsense CM980102; Diabetes insipidus, nephrogenic; Missense/nonsense CM950083; Diabetes insipidus, nephrogenic; Missense/nonsense CS034835; Diabetes insipidus, nephrogenic; Splicing CS024161; Diabetes insipidus, nephrogenic; Splicing

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 6)	122 DLAVNALSNSTTAGQ dbPAF 126 NALSNSTTAGQAVTV dbPAF 256 REVRRRQSVELHSPQ dbPAF 261 RQSVELHSPQSLPRG dbPAF 264 VELHSPQSLPRGTKA dbPAF 269 PQSLPRGTKA***** dbPAF

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

HPRD