Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P63252

- KCNJ2_HUMAN

UniProt

P63252 - KCNJ2_HUMAN

Protein

Inward rectifier potassium channel 2

Gene

KCNJ2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (11 Oct 2004)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei172 – 1721Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity

    GO - Molecular functioni

    1. inward rectifier potassium channel activity Source: UniProtKB
    2. phosphatidylinositol-4,5-bisphosphate binding Source: BHF-UCL
    3. voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization Source: BHF-UCL

    GO - Biological processi

    1. cardiac muscle cell action potential involved in contraction Source: BHF-UCL
    2. cellular potassium ion homeostasis Source: BHF-UCL
    3. cellular response to mechanical stimulus Source: Ensembl
    4. magnesium ion transport Source: Ensembl
    5. membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
    6. membrane repolarization during action potential Source: BHF-UCL
    7. membrane repolarization during cardiac muscle cell action potential Source: BHF-UCL
    8. positive regulation of potassium ion transmembrane transport Source: Ensembl
    9. potassium ion import Source: BHF-UCL
    10. potassium ion transmembrane transport Source: BHF-UCL
    11. potassium ion transport Source: UniProtKB
    12. protein homotetramerization Source: UniProtKB
    13. regulation of heart rate by cardiac conduction Source: BHF-UCL
    14. regulation of membrane repolarization Source: BHF-UCL
    15. regulation of resting membrane potential Source: BHF-UCL
    16. regulation of skeletal muscle contraction via regulation of action potential Source: BHF-UCL
    17. relaxation of cardiac muscle Source: BHF-UCL
    18. relaxation of skeletal muscle Source: BHF-UCL
    19. synaptic transmission Source: Reactome

    Keywords - Molecular functioni

    Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    Potassium

    Enzyme and pathway databases

    ReactomeiREACT_25004. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits.
    REACT_75831. Activation of G protein gated Potassium channels.
    REACT_75870. Classical Kir channels.

    Protein family/group databases

    TCDBi1.A.2.1.2. inward rectifier k(+) channel (irk-c) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Inward rectifier potassium channel 2
    Alternative name(s):
    Cardiac inward rectifier potassium channel
    Inward rectifier K(+) channel Kir2.1
    Short name:
    IRK-1
    Short name:
    hIRK1
    Potassium channel, inwardly rectifying subfamily J member 2
    Gene namesi
    Name:KCNJ2
    Synonyms:IRK1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6263. KCNJ2.

    Subcellular locationi

    GO - Cellular componenti

    1. dendritic spine Source: Ensembl
    2. Golgi apparatus Source: Ensembl
    3. integral component of plasma membrane Source: ProtInc
    4. intercalated disc Source: Ensembl
    5. intrinsic component of membrane Source: UniProtKB
    6. neuronal cell body Source: Ensembl
    7. plasma membrane Source: Reactome
    8. rough endoplasmic reticulum Source: Ensembl
    9. smooth endoplasmic reticulum Source: Ensembl
    10. T-tubule Source: Ensembl
    11. voltage-gated potassium channel complex Source: BHF-UCL

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Long QT syndrome 7 (LQT7) [MIM:170390]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541C → F in LQT7; there is loss of function when the mutant is expressed alone and a dominant-negative effect when expressed with wild-type channels; channel trafficking and assembly are not affected. 1 Publication
    VAR_065861
    Natural varianti67 – 671R → W in LQT7. 1 Publication
    VAR_017851
    Natural varianti71 – 711D → V in LQT7; loss of function mutation acting in a dominant-negative manner.
    VAR_017852
    Natural varianti75 – 751T → R in LQT7; loss of function mutation acting in a dominant-negative manner. 1 Publication
    VAR_065862
    Natural varianti95 – 984Missing in LQT7.
    VAR_017853
    Natural varianti186 – 1861P → L in LQT7. 1 Publication
    VAR_017854
    Natural varianti216 – 2161N → H in LQT7. 1 Publication
    VAR_017855
    Natural varianti218 – 2181R → W in LQT7; loss of function and dominant-negative effect in current.
    VAR_017856
    Natural varianti300 – 3001G → V in LQT7. 1 Publication
    VAR_017857
    Natural varianti302 – 3021V → M in LQT7. 1 Publication
    VAR_017858
    Natural varianti305 – 3051T → P in LQT7; there is loss of function when the mutant is expressed alone and a dominant-negative effect when expressed with wild-type channels; channel trafficking and assembly are not affected. 1 Publication
    VAR_065864
    Natural varianti314 – 3152Missing in LQT7.
    VAR_017859
    Short QT syndrome 3 (SQT3) [MIM:609622]: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti172 – 1721D → N in SQT3; gain of function. 1 Publication
    VAR_023842
    Atrial fibrillation, familial, 9 (ATFB9) [MIM:613980]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931V → I in ATFB9; has a gain-of-function effect on the channels. 1 Publication
    VAR_065863

    Keywords - Diseasei

    Atrial fibrillation, Disease mutation, Long QT syndrome, Short QT syndrome

    Organism-specific databases

    MIMi170390. phenotype.
    609622. phenotype.
    613980. phenotype.
    Orphaneti37553. Cardiodysrhythmic potassium-sensitive periodic paralysis.
    334. Familial atrial fibrillation.
    51083. Familial short QT syndrome.
    PharmGKBiPA214.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 427427Inward rectifier potassium channel 2PRO_0000154923Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei76 – 761S-nitrosocysteine1 Publication

    Post-translational modificationi

    S-nitrosylation increases the open probabilty and inward rectifying currents.1 Publication

    Keywords - PTMi

    S-nitrosylation

    Proteomic databases

    PaxDbiP63252.
    PeptideAtlasiP63252.
    PRIDEiP63252.

    PTM databases

    PhosphoSiteiP63252.

    Expressioni

    Tissue specificityi

    Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain.

    Gene expression databases

    BgeeiP63252.
    CleanExiHS_KCNJ2.
    GenevestigatoriP63252.

    Organism-specific databases

    HPAiHPA029109.

    Interactioni

    Subunit structurei

    Homomultimeric and heteromultimeric association with KCNJ4/Kir2.3. Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking By similarity.By similarity

    Protein-protein interaction databases

    BioGridi109961. 4 interactions.
    IntActiP63252. 2 interactions.
    STRINGi9606.ENSP00000243457.

    Structurei

    3D structure databases

    ProteinModelPortaliP63252.
    SMRiP63252. Positions 43-371.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8181CytoplasmicBy similarityAdd
    BLAST
    Topological domaini107 – 12822ExtracellularBy similarityAdd
    BLAST
    Topological domaini148 – 1569ExtracellularBy similarity
    Topological domaini179 – 427249CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei129 – 14012Helical; Pore-forming; Name=H5By similarityAdd
    BLAST
    Intramembranei141 – 1477Pore-formingBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei82 – 10625Helical; Name=M1By similarityAdd
    BLAST
    Transmembranei157 – 17822Helical; Name=M2By similarityAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi142 – 1476Selectivity filterBy similarity
    Motifi425 – 4273PDZ-bindingSequence Analysis

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG72812.
    HOGENOMiHOG000237325.
    HOVERGENiHBG006178.
    InParanoidiP63252.
    KOiK04996.
    OMAiHNATVAM.
    OrthoDBiEOG7XPZ5K.
    PhylomeDBiP63252.
    TreeFamiTF313676.

    Family and domain databases

    Gene3Di2.60.40.1400. 1 hit.
    InterProiIPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003271. K_chnl_inward-rec_Kir2.1.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    IPR013673. K_chnl_inward-rec_Kir_N.
    [Graphical view]
    PANTHERiPTHR11767. PTHR11767. 1 hit.
    PfamiPF01007. IRK. 1 hit.
    PF08466. IRK_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005465. GIRK_kir. 1 hit.
    PRINTSiPR01324. KIR21CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMiSSF81296. SSF81296. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    P63252-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGSVRTNRYS IVSSEEDGMK LATMAVANGF GNGKSKVHTR QQCRSRFVKK    50
    DGHCNVQFIN VGEKGQRYLA DIFTTCVDIR WRWMLVIFCL AFVLSWLFFG 100
    CVFWLIALLH GDLDASKEGK ACVSEVNSFT AAFLFSIETQ TTIGYGFRCV 150
    TDECPIAVFM VVFQSIVGCI IDAFIIGAVM AKMAKPKKRN ETLVFSHNAV 200
    IAMRDGKLCL MWRVGNLRKS HLVEAHVRAQ LLKSRITSEG EYIPLDQIDI 250
    NVGFDSGIDR IFLVSPITIV HEIDEDSPLY DLSKQDIDNA DFEIVVILEG 300
    MVEATAMTTQ CRSSYLANEI LWGHRYEPVL FEEKHYYKVD YSRFHKTYEV 350
    PNTPLCSARD LAEKKYILSN ANSFCYENEV ALTSKEEDDS ENGVPESTST 400
    DTPPDIDLHN QASVPLEPRP LRRESEI 427
    Length:427
    Mass (Da):48,288
    Last modified:October 11, 2004 - v1
    Checksum:iAB37CAD4B99B4050
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti330 – 3301L → F in AAC39555. (PubMed:9490857)Curated
    Sequence conflicti340 – 3401D → E in AAC39555. (PubMed:9490857)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541C → F in LQT7; there is loss of function when the mutant is expressed alone and a dominant-negative effect when expressed with wild-type channels; channel trafficking and assembly are not affected. 1 Publication
    VAR_065861
    Natural varianti67 – 671R → W in LQT7. 1 Publication
    VAR_017851
    Natural varianti71 – 711D → V in LQT7; loss of function mutation acting in a dominant-negative manner.
    VAR_017852
    Natural varianti75 – 751T → R in LQT7; loss of function mutation acting in a dominant-negative manner. 1 Publication
    VAR_065862
    Natural varianti93 – 931V → I in ATFB9; has a gain-of-function effect on the channels. 1 Publication
    VAR_065863
    Natural varianti95 – 984Missing in LQT7.
    VAR_017853
    Natural varianti172 – 1721D → N in SQT3; gain of function. 1 Publication
    VAR_023842
    Natural varianti186 – 1861P → L in LQT7. 1 Publication
    VAR_017854
    Natural varianti216 – 2161N → H in LQT7. 1 Publication
    VAR_017855
    Natural varianti218 – 2181R → W in LQT7; loss of function and dominant-negative effect in current.
    VAR_017856
    Natural varianti300 – 3001G → V in LQT7. 1 Publication
    VAR_017857
    Natural varianti302 – 3021V → M in LQT7. 1 Publication
    VAR_017858
    Natural varianti305 – 3051T → P in LQT7; there is loss of function when the mutant is expressed alone and a dominant-negative effect when expressed with wild-type channels; channel trafficking and assembly are not affected. 1 Publication
    VAR_065864
    Natural varianti314 – 3152Missing in LQT7.
    VAR_017859

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U24055 mRNA. Translation: AAB50277.1.
    U12507 mRNA. Translation: AAC50072.1.
    U16861 mRNA. Translation: AAA91781.1.
    AF153819 Genomic DNA. Translation: AAF73242.1.
    AF153820 mRNA. Translation: AAF73241.1.
    U22413 mRNA. Translation: AAA64282.1.
    AF011904 mRNA. Translation: AAC39555.1.
    AF021139 mRNA. Translation: AAB88797.1.
    CCDSiCCDS11688.1.
    PIRiI38727.
    RefSeqiNP_000882.1. NM_000891.2.
    UniGeneiHs.1547.

    Genome annotation databases

    EnsembliENST00000243457; ENSP00000243457; ENSG00000123700.
    ENST00000535240; ENSP00000441848; ENSG00000123700.
    GeneIDi3759.
    KEGGihsa:3759.
    UCSCiuc002jir.3. human.

    Polymorphism databases

    DMDMi54037433.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U24055 mRNA. Translation: AAB50277.1 .
    U12507 mRNA. Translation: AAC50072.1 .
    U16861 mRNA. Translation: AAA91781.1 .
    AF153819 Genomic DNA. Translation: AAF73242.1 .
    AF153820 mRNA. Translation: AAF73241.1 .
    U22413 mRNA. Translation: AAA64282.1 .
    AF011904 mRNA. Translation: AAC39555.1 .
    AF021139 mRNA. Translation: AAB88797.1 .
    CCDSi CCDS11688.1.
    PIRi I38727.
    RefSeqi NP_000882.1. NM_000891.2.
    UniGenei Hs.1547.

    3D structure databases

    ProteinModelPortali P63252.
    SMRi P63252. Positions 43-371.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109961. 4 interactions.
    IntActi P63252. 2 interactions.
    STRINGi 9606.ENSP00000243457.

    Chemistry

    ChEMBLi CHEMBL1914276.
    GuidetoPHARMACOLOGYi 430.

    Protein family/group databases

    TCDBi 1.A.2.1.2. inward rectifier k(+) channel (irk-c) family.

    PTM databases

    PhosphoSitei P63252.

    Polymorphism databases

    DMDMi 54037433.

    Proteomic databases

    PaxDbi P63252.
    PeptideAtlasi P63252.
    PRIDEi P63252.

    Protocols and materials databases

    DNASUi 3759.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000243457 ; ENSP00000243457 ; ENSG00000123700 .
    ENST00000535240 ; ENSP00000441848 ; ENSG00000123700 .
    GeneIDi 3759.
    KEGGi hsa:3759.
    UCSCi uc002jir.3. human.

    Organism-specific databases

    CTDi 3759.
    GeneCardsi GC17P068165.
    GeneReviewsi KCNJ2.
    HGNCi HGNC:6263. KCNJ2.
    HPAi HPA029109.
    MIMi 170390. phenotype.
    600681. gene.
    609622. phenotype.
    613980. phenotype.
    neXtProti NX_P63252.
    Orphaneti 37553. Cardiodysrhythmic potassium-sensitive periodic paralysis.
    334. Familial atrial fibrillation.
    51083. Familial short QT syndrome.
    PharmGKBi PA214.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG72812.
    HOGENOMi HOG000237325.
    HOVERGENi HBG006178.
    InParanoidi P63252.
    KOi K04996.
    OMAi HNATVAM.
    OrthoDBi EOG7XPZ5K.
    PhylomeDBi P63252.
    TreeFami TF313676.

    Enzyme and pathway databases

    Reactomei REACT_25004. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits.
    REACT_75831. Activation of G protein gated Potassium channels.
    REACT_75870. Classical Kir channels.

    Miscellaneous databases

    GeneWikii Kir2.1.
    GenomeRNAii 3759.
    NextBioi 14737.
    PROi P63252.
    SOURCEi Search...

    Gene expression databases

    Bgeei P63252.
    CleanExi HS_KCNJ2.
    Genevestigatori P63252.

    Family and domain databases

    Gene3Di 2.60.40.1400. 1 hit.
    InterProi IPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003271. K_chnl_inward-rec_Kir2.1.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    IPR013673. K_chnl_inward-rec_Kir_N.
    [Graphical view ]
    PANTHERi PTHR11767. PTHR11767. 1 hit.
    Pfami PF01007. IRK. 1 hit.
    PF08466. IRK_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005465. GIRK_kir. 1 hit.
    PRINTSi PR01324. KIR21CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMi SSF81296. SSF81296. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and expression of a human heart inward rectifier potassium channel."
      Raab-Graham K.F., Radeke C.M., Vandenberg C.A.
      NeuroReport 5:2501-2505(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart.
    2. Tang W., Qin C.L., Yang X.C.
      Submitted (APR-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    3. "Cloning and functional expression of a human gene, hIRK1, encoding the heart inward rectifier K+-channel."
      Wood L.S., Tsai T.-D., Lee K.S., Vogeli G.
      Gene 163:313-317(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart.
    4. "Inwardly rectifying whole cell potassium current in human blood eosinophils."
      Tare M., Prestwich S.A., Gordienko D.V., Parveen S., Carver J.E., Robinson C., Bolton T.B.
      J. Physiol. (Lond.) 506:303-318(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Blood.
    5. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    6. "Inward rectifier K+ channel from human heart and brain: cloning and stable expression in a human cell line."
      Ashen M.D., O'Rourke B., Kluge K.A., Johns D.C., Tomaselli G.F.
      Am. J. Physiol. 268:H506-H511(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-143.
      Tissue: Fetal brain and Heart.
    7. "Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome."
      Preisig-Muller R., Schlichthorl G., Goerge T., Heinen S., Bruggemann A., Rajan S., Derst C., Veh R.W., Daut J.
      Proc. Natl. Acad. Sci. U.S.A. 99:7774-7779(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH KCNJ4.
    8. "Nitric oxide increases cardiac IK1 by nitrosylation of cysteine 76 of Kir2.1 channels."
      Gomez R., Caballero R., Barana A., Amoros I., Calvo E., Lopez J.A., Klein H., Vaquero M., Osuna L., Atienza F., Almendral J., Pinto A., Tamargo J., Delpon E.
      Circ. Res. 105:383-392(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: S-NITROSYLATION AT CYS-76.
    9. Cited for: CHARACTERIZATION OF VARIANTS LQT7 VAL-71 AND TRP-218, VARIANTS LQT7 VAL-300; 95-SER--PHE-98 DEL AND SER-314-315-TYR DEL.
    10. "KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes."
      Andelfinger G., Tapper A.R., Welch R.C., Vanoye C.G., George A.L. Jr., Benson D.W.
      Am. J. Hum. Genet. 71:663-668(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LQT7 TRP-67.
    11. "Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)."
      Tristani-Firouzi M., Jensen J.L., Donaldson M.R., Sansone V., Meola G., Hahn A., Bendahhou S., Kwiecinski H., Fidzianska A., Plaster N., Fu Y.-H., Ptacek L.J., Tawil R.
      J. Clin. Invest. 110:381-388(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LQT7 LEU-186; HIS-216 AND MET-302.
    12. Cited for: VARIANT ATFB9 ILE-93, CHARACTERIZATION OF VARIANT ATFB9 ILE-93.
    13. Cited for: VARIANT SQT3 ASN-172, CHARACTERIZATION OF VARIANT SQT3 ASN-172.
    14. "Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome."
      Lu C.W., Lin J.H., Rajawat Y.S., Jerng H., Rami T.G., Sanchez X., DeFreitas G., Carabello B., DeMayo F., Kearney D.L., Miller G., Li H., Pfaffinger P.J., Bowles N.E., Khoury D.S., Towbin J.A.
      J. Med. Genet. 43:653-659(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LQT7 ARG-75, CHARACTERIZATION OF VARIANT LQT7 ARG-75.
    15. "Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred."
      Bendahhou S., Fournier E., Gallet S., Menard D., Larroque M.M., Barhanin J.
      Hum. Mol. Genet. 16:900-906(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LQT7 PHE-54 AND PRO-305, CHARACTERIZATION OF VARIANTS LQT7 PHE-54 AND PRO-305.

    Entry informationi

    Entry nameiKCNJ2_HUMAN
    AccessioniPrimary (citable) accession number: P63252
    Secondary accession number(s): O15110, P48049
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 11, 2004
    Last sequence update: October 11, 2004
    Last modified: October 1, 2014
    This is version 115 of the entry and version 1 of the sequence. [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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3