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P63252

- KCNJ2_HUMAN

UniProt

P63252 - KCNJ2_HUMAN

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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

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
Complete GO annotation...

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

Membrane; Multi-pass membrane protein. Membrane; Lipid-anchor 1 Publication

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
Complete GO annotation...

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. 1 Publication
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
Lipidationi2 – 21N-myristoyl glycine1 Publication
Modified residuei76 – 761S-nitrosocysteine1 Publication

Post-translational modificationi

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

Keywords - PTMi

Lipoprotein, Myristate, 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.
GeneTreeiENSGT00760000118842.
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

        10         20         30         40         50
MGSVRTNRYS IVSSEEDGMK LATMAVANGF GNGKSKVHTR QQCRSRFVKK
60 70 80 90 100
DGHCNVQFIN VGEKGQRYLA DIFTTCVDIR WRWMLVIFCL AFVLSWLFFG
110 120 130 140 150
CVFWLIALLH GDLDASKEGK ACVSEVNSFT AAFLFSIETQ TTIGYGFRCV
160 170 180 190 200
TDECPIAVFM VVFQSIVGCI IDAFIIGAVM AKMAKPKKRN ETLVFSHNAV
210 220 230 240 250
IAMRDGKLCL MWRVGNLRKS HLVEAHVRAQ LLKSRITSEG EYIPLDQIDI
260 270 280 290 300
NVGFDSGIDR IFLVSPITIV HEIDEDSPLY DLSKQDIDNA DFEIVVILEG
310 320 330 340 350
MVEATAMTTQ CRSSYLANEI LWGHRYEPVL FEEKHYYKVD YSRFHKTYEV
360 370 380 390 400
PNTPLCSARD LAEKKYILSN ANSFCYENEV ALTSKEEDDS ENGVPESTST
410 420
DTPPDIDLHN QASVPLEPRP LRRESEI
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. 1 Publication
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.
GeneTreei ENSGT00760000118842.
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. "Cell-free identification of novel N-myristoylated proteins from complementary DNA resources using bioorthogonal myristic acid analogues."
    Takamitsu E., Fukunaga K., Iio Y., Moriya K., Utsumi T.
    Anal. Biochem. 464:83-93(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: MIRISTOYLATION AT GLY-2, SUBCELLULAR LOCATION.
  10. 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.
  11. "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.
  12. "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.
  13. Cited for: VARIANT ATFB9 ILE-93, CHARACTERIZATION OF VARIANT ATFB9 ILE-93.
  14. Cited for: VARIANT SQT3 ASN-172, CHARACTERIZATION OF VARIANT SQT3 ASN-172.
  15. "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.
  16. "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 29, 2014
This is version 116 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