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Protein

Aquaporin-2

Gene

AQP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-432047 Passive transport by Aquaporins

Protein family/group databases

TCDBi1.A.8.8.8 the major intrinsic protein (mip) family

Names & Taxonomyi

Protein namesi
Recommended name:
Aquaporin-2
Short name:
AQP-2
Alternative name(s):
ADH water channel
Aquaporin-CD
Short name:
AQP-CD
Collecting duct water channel protein
WCH-CD
Water channel protein for renal collecting duct
Gene namesi
Name:AQP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000167580.7
HGNCiHGNC:634 AQP2
MIMi107777 gene
neXtProtiNX_P41181

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 16CytoplasmicSequence analysisAdd BLAST16
Transmembranei17 – 34HelicalSequence analysisAdd BLAST18
Topological domaini35 – 40ExtracellularSequence analysis6
Transmembranei41 – 59HelicalSequence analysisAdd BLAST19
Topological domaini60 – 85CytoplasmicSequence analysisAdd BLAST26
Transmembranei86 – 107HelicalSequence analysisAdd BLAST22
Topological domaini108 – 127ExtracellularSequence analysisAdd BLAST20
Transmembranei128 – 148HelicalSequence analysisAdd BLAST21
Topological domaini149 – 156CytoplasmicSequence analysis8
Transmembranei157 – 176HelicalSequence analysisAdd BLAST20
Topological domaini177 – 202ExtracellularSequence analysisAdd BLAST26
Transmembranei203 – 224HelicalSequence analysisAdd BLAST22
Topological domaini225 – 271CytoplasmicSequence analysisAdd BLAST47

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Diabetes insipidus, nephrogenic, autosomal (ANDI)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive.
See also OMIM:125800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01523922L → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894336EnsemblClinVar.1
Natural variantiVAR_01524028L → P in ANDI. 1 Publication1
Natural variantiVAR_01524147A → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs995684800Ensembl.1
Natural variantiVAR_01525657Q → P in ANDI. 1 PublicationCorresponds to variant dbSNP:rs28931580EnsemblClinVar.1
Natural variantiVAR_00440164G → R in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894326EnsemblClinVar.1
Natural variantiVAR_01524268N → S in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894331EnsemblClinVar.1
Natural variantiVAR_06258570A → D in ANDI. 1 Publication1
Natural variantiVAR_01524371V → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs149659001EnsemblClinVar.1
Natural variantiVAR_062586100G → R in ANDI. 1 Publication1
Natural variantiVAR_015257100G → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894338EnsemblClinVar.1
Natural variantiVAR_071370108T → M in ANDI. 1 Publication1
Natural variantiVAR_015244125T → M in ANDI. 3 PublicationsCorresponds to variant dbSNP:rs104894333EnsemblClinVar.1
Natural variantiVAR_015245126T → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894330EnsemblClinVar.1
Natural variantiVAR_015246147A → T in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894334EnsemblClinVar.1
Natural variantiVAR_015247168V → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs755694590Ensembl.1
Natural variantiVAR_015248175G → R in ANDI. 3 PublicationsCorresponds to variant dbSNP:rs104894335EnsemblClinVar.1
Natural variantiVAR_062587180G → S in ANDI. 1 PublicationCorresponds to variant dbSNP:rs147039983Ensembl.1
Natural variantiVAR_015249181C → W in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894337EnsemblClinVar.1
Natural variantiVAR_015250185P → A in ANDI. 1 PublicationCorresponds to variant dbSNP:rs761713751Ensembl.1
Natural variantiVAR_004402187R → C in ANDI; mutant protein does not fold properly and is not functional. 2 PublicationsCorresponds to variant dbSNP:rs104894328EnsemblClinVar.1
Natural variantiVAR_062588187R → H in ANDI. 1 PublicationCorresponds to variant dbSNP:rs193922495EnsemblClinVar.1
Natural variantiVAR_015251190A → T in ANDI; mutant protein does not fold properly and is not functional. 2 PublicationsCorresponds to variant dbSNP:rs104894341EnsemblClinVar.1
Natural variantiVAR_015253202W → C in ANDI. 1 Publication1
Natural variantiVAR_004403216S → P in ANDI. 2 PublicationsCorresponds to variant dbSNP:rs104894329EnsemblClinVar.1
Natural variantiVAR_062589254R → L in ANDI; results in the loss of arginine vasopressin-mediated phosphorylation at S-256. 1 Publication1
Natural variantiVAR_062590254R → Q in ANDI; exerts a dominant-negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus. 1 Publication1
Natural variantiVAR_015254258E → K in ANDI; retained in the Golgi compartment. 2 PublicationsCorresponds to variant dbSNP:rs104894332EnsemblClinVar.1
Natural variantiVAR_015255262P → L in ANDI; mutant protein folds properly and is functional but is retained in intracellular vesicles and does not localize to the ER; upon coexpression with wild-type AQP2 mutant protein interacts with wild-type AQP2 and the resulting heterotetramer properly localizes to the apical membrane. 2 PublicationsCorresponds to variant dbSNP:rs104894339EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi148S → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi148S → D: Retained in the endoplasmic reticulum. 1 Publication1
Mutagenesisi229S → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi229S → D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi231S → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi231S → D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi244T → A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi244T → E: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis. 1 Publication1
Mutagenesisi256S → A: Retained in vesicles. 1 Publication1
Mutagenesisi256S → D: Expressed in the apical membrane. 1 Publication1

Keywords - Diseasei

Diabetes insipidus, Disease mutation

Organism-specific databases

DisGeNETi359
GeneReviewsiAQP2
MalaCardsiAQP2
MIMi125800 phenotype
OpenTargetsiENSG00000167580
Orphaneti223 Nephrogenic diabetes insipidus
PharmGKBiPA24920

Polymorphism and mutation databases

BioMutaiAQP2
DMDMi728874

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000639341 – 271Aquaporin-2Add BLAST271

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi123N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei256Phosphoserine; by PKA1 Publication1

Post-translational modificationi

Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP41181
PeptideAtlasiP41181
PRIDEiP41181
ProteomicsDBi55412

PTM databases

iPTMnetiP41181
PhosphoSitePlusiP41181

Expressioni

Tissue specificityi

Expressed in renal collecting tubules.

Gene expression databases

BgeeiENSG00000167580 Expressed in 112 organ(s), highest expression level in cortex of kidney
CleanExiHS_AQP2
ExpressionAtlasiP41181 baseline and differential
GenevisibleiP41181 HS

Organism-specific databases

HPAiHPA046834

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CREB3O43889-23EBI-12701138,EBI-625022

Protein-protein interaction databases

BioGridi106855, 28 interactors
IntActiP41181, 34 interactors
STRINGi9606.ENSP00000199280

Structurei

Secondary structure

1271
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP41181
SMRiP41181
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi68 – 70NPA 13
Motifi184 – 186NPA 23

Domaini

Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0223 Eukaryota
COG0580 LUCA
GeneTreeiENSGT00760000119223
HOGENOMiHOG000288286
HOVERGENiHBG000312
InParanoidiP41181
KOiK09865
OMAiASMCAGG
OrthoDBiEOG091G166T
PhylomeDBiP41181
TreeFamiTF312940

Family and domain databases

CDDicd00333 MIP, 1 hit
Gene3Di1.20.1080.10, 1 hit
InterProiView protein in InterPro
IPR023271 Aquaporin-like
IPR034294 Aquaporin_transptr
IPR000425 MIP
IPR022357 MIP_CS
PANTHERiPTHR19139 PTHR19139, 1 hit
PfamiView protein in Pfam
PF00230 MIP, 1 hit
PRINTSiPR00783 MINTRINSICP
SUPFAMiSSF81338 SSF81338, 1 hit
TIGRFAMsiTIGR00861 MIP, 1 hit
PROSITEiView protein in PROSITE
PS00221 MIP, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P41181-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL
60 70 80 90 100
GIGTLVQALG HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG
110 120 130 140 150
AALLHEITPA DIRGDLAVNA LSNSTTAGQA VTVELFLTLQ LVLCIFASTD
160 170 180 190 200
ERRGENPGTP ALSIGFSVAL GHLLGIHYTG CSMNPARSLA PAVVTGKFDD
210 220 230 240 250
HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL EPDTDWEERE
260 270
VRRRQSVELH SPQSLPRGTK A
Length:271
Mass (Da):28,837
Last modified:February 1, 1995 - v1
Checksum:iC2DDE2AF4DDD192A
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W0S2F8W0S2_HUMAN
Aquaporin-2
AQP2
223Annotation score:
F8VPL3F8VPL3_HUMAN
Aquaporin-2
AQP2
244Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti35 – 38PQAL → ATAP (PubMed:7510718).Curated4
Sequence conflicti83V → F (PubMed:7510718).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01523922L → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894336EnsemblClinVar.1
Natural variantiVAR_01524028L → P in ANDI. 1 Publication1
Natural variantiVAR_01524147A → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs995684800Ensembl.1
Natural variantiVAR_01525657Q → P in ANDI. 1 PublicationCorresponds to variant dbSNP:rs28931580EnsemblClinVar.1
Natural variantiVAR_00440164G → R in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894326EnsemblClinVar.1
Natural variantiVAR_01524268N → S in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894331EnsemblClinVar.1
Natural variantiVAR_06258570A → D in ANDI. 1 Publication1
Natural variantiVAR_01524371V → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs149659001EnsemblClinVar.1
Natural variantiVAR_062586100G → R in ANDI. 1 Publication1
Natural variantiVAR_015257100G → V in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894338EnsemblClinVar.1
Natural variantiVAR_071370108T → M in ANDI. 1 Publication1
Natural variantiVAR_037577121L → F. Corresponds to variant dbSNP:rs11169226Ensembl.1
Natural variantiVAR_015244125T → M in ANDI. 3 PublicationsCorresponds to variant dbSNP:rs104894333EnsemblClinVar.1
Natural variantiVAR_015245126T → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894330EnsemblClinVar.1
Natural variantiVAR_015246147A → T in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894334EnsemblClinVar.1
Natural variantiVAR_015247168V → M in ANDI. 1 PublicationCorresponds to variant dbSNP:rs755694590Ensembl.1
Natural variantiVAR_015248175G → R in ANDI. 3 PublicationsCorresponds to variant dbSNP:rs104894335EnsemblClinVar.1
Natural variantiVAR_062587180G → S in ANDI. 1 PublicationCorresponds to variant dbSNP:rs147039983Ensembl.1
Natural variantiVAR_015249181C → W in ANDI. 1 PublicationCorresponds to variant dbSNP:rs104894337EnsemblClinVar.1
Natural variantiVAR_015250185P → A in ANDI. 1 PublicationCorresponds to variant dbSNP:rs761713751Ensembl.1
Natural variantiVAR_004402187R → C in ANDI; mutant protein does not fold properly and is not functional. 2 PublicationsCorresponds to variant dbSNP:rs104894328EnsemblClinVar.1
Natural variantiVAR_062588187R → H in ANDI. 1 PublicationCorresponds to variant dbSNP:rs193922495EnsemblClinVar.1
Natural variantiVAR_015251190A → T in ANDI; mutant protein does not fold properly and is not functional. 2 PublicationsCorresponds to variant dbSNP:rs104894341EnsemblClinVar.1
Natural variantiVAR_015252194V → I1 PublicationCorresponds to variant dbSNP:rs772051028Ensembl.1
Natural variantiVAR_015253202W → C in ANDI. 1 Publication1
Natural variantiVAR_004403216S → P in ANDI. 2 PublicationsCorresponds to variant dbSNP:rs104894329EnsemblClinVar.1
Natural variantiVAR_062589254R → L in ANDI; results in the loss of arginine vasopressin-mediated phosphorylation at S-256. 1 Publication1
Natural variantiVAR_062590254R → Q in ANDI; exerts a dominant-negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus. 1 Publication1
Natural variantiVAR_015254258E → K in ANDI; retained in the Golgi compartment. 2 PublicationsCorresponds to variant dbSNP:rs104894332EnsemblClinVar.1
Natural variantiVAR_015255262P → L in ANDI; mutant protein folds properly and is functional but is retained in intracellular vesicles and does not localize to the ER; upon coexpression with wild-type AQP2 mutant protein interacts with wild-type AQP2 and the resulting heterotetramer properly localizes to the apical membrane. 2 PublicationsCorresponds to variant dbSNP:rs104894339EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z29491 Genomic DNA Translation: CAA82627.1
D31846 Genomic DNA Translation: BAA06632.1
S73196 mRNA Translation: AAB31999.1
S73197 mRNA Translation: AAB31998.1
AF147093, AF147092 Genomic DNA Translation: AAD38692.1
BC042496 mRNA Translation: AAH42496.1
CCDSiCCDS8792.1
PIRiA53442
I64818
RefSeqiNP_000477.1, NM_000486.5
UniGeneiHs.130730

Genome annotation databases

EnsembliENST00000199280; ENSP00000199280; ENSG00000167580
GeneIDi359
KEGGihsa:359
UCSCiuc001rvn.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z29491 Genomic DNA Translation: CAA82627.1
D31846 Genomic DNA Translation: BAA06632.1
S73196 mRNA Translation: AAB31999.1
S73197 mRNA Translation: AAB31998.1
AF147093, AF147092 Genomic DNA Translation: AAD38692.1
BC042496 mRNA Translation: AAH42496.1
CCDSiCCDS8792.1
PIRiA53442
I64818
RefSeqiNP_000477.1, NM_000486.5
UniGeneiHs.130730

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NEFX-ray2.75A/B/C/D3-241[»]
4OJ2X-ray3.05X1-271[»]
ProteinModelPortaliP41181
SMRiP41181
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106855, 28 interactors
IntActiP41181, 34 interactors
STRINGi9606.ENSP00000199280

Protein family/group databases

TCDBi1.A.8.8.8 the major intrinsic protein (mip) family

PTM databases

iPTMnetiP41181
PhosphoSitePlusiP41181

Polymorphism and mutation databases

BioMutaiAQP2
DMDMi728874

Proteomic databases

PaxDbiP41181
PeptideAtlasiP41181
PRIDEiP41181
ProteomicsDBi55412

Protocols and materials databases

DNASUi359
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000199280; ENSP00000199280; ENSG00000167580
GeneIDi359
KEGGihsa:359
UCSCiuc001rvn.4 human

Organism-specific databases

CTDi359
DisGeNETi359
EuPathDBiHostDB:ENSG00000167580.7
GeneCardsiAQP2
GeneReviewsiAQP2
HGNCiHGNC:634 AQP2
HPAiHPA046834
MalaCardsiAQP2
MIMi107777 gene
125800 phenotype
neXtProtiNX_P41181
OpenTargetsiENSG00000167580
Orphaneti223 Nephrogenic diabetes insipidus
PharmGKBiPA24920
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0223 Eukaryota
COG0580 LUCA
GeneTreeiENSGT00760000119223
HOGENOMiHOG000288286
HOVERGENiHBG000312
InParanoidiP41181
KOiK09865
OMAiASMCAGG
OrthoDBiEOG091G166T
PhylomeDBiP41181
TreeFamiTF312940

Enzyme and pathway databases

ReactomeiR-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-432047 Passive transport by Aquaporins

Miscellaneous databases

GeneWikiiAquaporin_2
GenomeRNAii359
PROiPR:P41181
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167580 Expressed in 112 organ(s), highest expression level in cortex of kidney
CleanExiHS_AQP2
ExpressionAtlasiP41181 baseline and differential
GenevisibleiP41181 HS

Family and domain databases

CDDicd00333 MIP, 1 hit
Gene3Di1.20.1080.10, 1 hit
InterProiView protein in InterPro
IPR023271 Aquaporin-like
IPR034294 Aquaporin_transptr
IPR000425 MIP
IPR022357 MIP_CS
PANTHERiPTHR19139 PTHR19139, 1 hit
PfamiView protein in Pfam
PF00230 MIP, 1 hit
PRINTSiPR00783 MINTRINSICP
SUPFAMiSSF81338 SSF81338, 1 hit
TIGRFAMsiTIGR00861 MIP, 1 hit
PROSITEiView protein in PROSITE
PS00221 MIP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAQP2_HUMAN
AccessioniPrimary (citable) accession number: P41181
Secondary accession number(s): Q9UD68
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: November 7, 2018
This is version 179 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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