Swiss-Prot entry
ID IRK2_HUMAN STANDARD; PRT; 427 AA.
AC P63252; O15110; P48049;
DT 01-FEB-1996 (Rel. 33, Created)
DT 01-FEB-1996 (Rel. 33, Last sequence update)
DT 13-SEP-2005 (Rel. 48, Last annotation update)
DE Inward rectifier potassium channel 2 (Potassium channel, inwardly
DE rectifying, subfamily J, member 2) (Inward rectifier K(+) channel
DE Kir2.1) (Cardiac inward rectifier potassium channel) (IRK1).
GN Name=KCNJ2; Synonyms=HIRK1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Heart;
RX MEDLINE=95210614; PubMed=7696590 [NCBI, ExPASy, EBI, Israel, Japan];
RA Raab-Graham K.F., Radeke C.M., Vandenberg C.A.;
RT "Molecular cloning and expression of a human heart inward rectifier
RT potassium channel.";
RL NeuroReport 5:2501-2505(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Brain;
RA Tang W., Qin C.L., Yang X.C.;
RL Submitted (APR-1995) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Heart;
RX MEDLINE=96011654; PubMed=7590287 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/0378-1119(95)00244-Z;
RA Wood L.S., Tsai T.-D., Lee K.S., Vogeli G.;
RT "Cloning and functional expression of a human gene, hIRK1, encoding
RT the heart inward rectifier K+-channel.";
RL Gene 163:313-317(1995).
RN [4]
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Blood;
RX MEDLINE=98154156; PubMed=9490857 [NCBI, ExPASy, EBI, Israel, Japan];
RX DOI=10.1111/j.1469-7793.1998.303bw.x;
RA Tare M., Prestwich S.A., Gordienko D.V., Parveen S., Carver J.E.,
RA Robinson C., Bolton T.B.;
RT "Inwardly rectifying whole cell potassium current in human blood
RT eosinophils.";
RL J. Physiol. (Lond.) 506:303-318(1998).
RN [5]
RP NUCLEOTIDE SEQUENCE.
RX MEDLINE=21135569; PubMed=11240146 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/S0014-5793(01)02202-5;
RA Derst C., Karschin C., Wischmeyer E., Hirsch J.R., Preisig-Muller R.,
RA Rajan S., Engel H., Grzeschik K., Daut J., Karschin A.;
RT "Genetic and functional linkage of Kir5.1 and Kir2.1 channel
RT subunits.";
RL FEBS Lett. 491:305-311(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE OF 1-143.
RC TISSUE=Fetal brain, and Heart;
RX MEDLINE=95142296; PubMed=7840300 [NCBI, ExPASy, EBI, Israel, Japan];
RA Ashen M.D., O'Rourke B., Kluge K.A., Johns D.C., Tomaselli G.F.;
RT "Inward rectifier K+ channel from human heart and brain: cloning and
RT stable expression in a human cell line.";
RL Am. J. Physiol. 268:H506-H511(1995).
RN [7]
RP CHARACTERIZATION OF VARIANTS ANDERSEN SYNDROME VAL-71 AND TRP-218, AND
RP VARIANTS ANDERSEN SYNDROME VAL-300; 95-SER--PHE-98 DEL AND
RP SER-314-315-TYR DEL.
RX PubMed=11371347 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/S0092-8674(01)00342-7;
RA Plaster N.M., Tawil R., Tristani-Firouzi M., Canun S., Bendahhou S.,
RA Tsunoda A., Donaldson M.R., Iannaccone S.T., Brunt E., Barohn R.,
RA Clark J., Deymeer F., George A.L. Jr., Fish F.A., Hahn A., Nitu A.,
RA Ozdemir C., Serdaroglu P., Subramony S.H., Wolfe G., Fu Y.-H.,
RA Ptacek L.J.;
RT "Mutations in Kir2.1 cause the developmental and episodic electrical
RT phenotypes of Andersen's syndrome.";
RL Cell 105:511-519(2001).
RN [8]
RP VARIANT ANDERSEN SYNDROME TRP-67.
RX PubMed=12148092 [NCBI, ExPASy, EBI, Israel, Japan];
RA Andelfinger G., Tapper A.R., Welch R.C., Vanoye C.G., George A.L. Jr.,
RA Benson D.W.;
RT "KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac
RT and skeletal muscle phenotypes.";
RL Am. J. Hum. Genet. 71:663-668(2002).
RN [9]
RP VARIANTS ANDERSEN SYNDROME LEU-186; HIS-216 AND MET-302.
RX PubMed=12163457 [NCBI, ExPASy, EBI, Israel, Japan];
RA Tristani-Firouzi M., Jensen J.L., Donaldson M.R., Sansone V.,
RA Meola G., Hahn A., Bendahhou S., Kwiecinski H., Fidzianska A.,
RA Plaster N., Fu Y.-H., Ptacek L.J., Tawil R.;
RT "Functional and clinical characterization of KCNJ2 mutations
RT associated with LQT7 (Andersen syndrome).";
RL J. Clin. Invest. 110:381-388(2002).
CC -!- FUNCTION: Probably participates in establishing action potential
CC waveform and excitability of neuronal and muscle tissues. Inward
CC rectifier potassium channels are characterized by a greater
CC tendancy to allow potassium to flow into the cell rather than out
CC of it. Their voltage dependence is regulated by the concentration
CC of extracellular potassium; as external potassium is raised, the
CC voltage range of the channel opening shifts to more positive
CC voltages. The inward rectification is mainly due to the blockage
CC of outward current by internal magnesium. Can be blocked by
CC extracellular barium or cesium.
CC -!- SUBUNIT: Homomultimeric and heteromultimeric association with
CC Kir2.3, resulting in an enhanced G-protein-induced current.
CC Association, via its PDZ-recognition domain, with LIN7A, LIN7B,
CC LIN7C, DLG1, CASK and APBA1 plays a key role in its localization
CC and trafficking (By similarity).
CC -!- SUBCELLULAR LOCATION: Integral membrane protein.
CC -!- TISSUE SPECIFICITY: Heart, brain, placenta, lung, skeletal muscle,
CC and kidney. Diffusely distributed throughout the brain.
CC -!- DISEASE: Defects in KCNJ2 are the cause of Andersen syndrome
CC [MIM:170390]; also called Andersen cardiodysrhythmic periodic
CC paralysis or long QT syndrome type 7 (LQT7). Andersen syndrome
CC manifests as a clinical triad consisting of potassium-sensitive
CC periodic paralysis, ventricular ectopy, and dysmorphic features.
CC -!- SIMILARITY: Belongs to the inward rectifier-type potassium channel
CC family.
CC --------------------------------------------------------------------------
CC This Swiss-Prot entry is copyright. It is produced through a collaboration
CC between the Swiss Institute of Bioinformatics and the EMBL outstation -
CC the European Bioinformatics Institute. There are no restrictions on its
CC use as long as its content is in no way modified and this statement is not
CC removed.
CC --------------------------------------------------------------------------
DR EMBL; U24055; AAB50277.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; U12507; AAC50072.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; U16861; AAA91781.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; AF153819; AAF73242.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; AF153820; AAF73241.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; U22413; AAA64282.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; AF011904; AAC39555.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; AF021139; AAB88797.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR PIR; I38727; I38727.
DR HSSP; P35562; 1N9P. [HSSP ENTRY / SWISS-3DIMAGE / PDB]
DR SMR; P63252; 187-365.
DR Ensembl; ENSG00000123700; Homo_sapiens
DR HGNC; HGNC:6263; KCNJ2.
DR CleanEx; HGNC:6263; KCNJ2.
DR MIM; 600681; -. [NCBI / EBI]
DR GeneCards; KCNJ2.
DR GeneLynx; KCNJ2.
DR GenAtlas; KCNJ2.
DR SOURCE; KCNJ2.
DR MIM; 170390; -. [NCBI / EBI]
DR InterPro; IPR001838; K+channel_IR.
DR InterPro; IPR001622; K+channel_pore.
DR InterPro; IPR003271; KIR21_channel.
DR InterPro; Graphical view of domain structure.
DR PANTHER; PTHR11767; K+channel_IR; 1.
DR Pfam; PF01007; IRK; 1.
DR Pfam; Graphical view of domain structure.
DR PRINTS; PR01324; KIR21CHANNEL.
DR PRINTS; PR01320; KIRCHANNEL.
DR ProDom; PD001103; K+channel_IR; 1.
DR ProDom [Domain structure / List of seq. sharing at least 1 domain ]
DR CMR; P63252.
DR HOVERGEN [Family / Alignment / Tree]
DR BLOCKS; P63252.
DR ProtoNet; P63252.
DR ProtoMap; P63252.
DR PRESAGE; P63252.
DR DIP; P63252.
DR ModBase; P63252.
DR SWISS-2DPAGE; GET REGION ON 2D PAGE.
KW Disease mutation; Ion transport; Ionic channel; Long QT syndrome;
KW Potassium; Potassium transport; Transmembrane; Transport;
KW Voltage-gated channel.
FT TOPO_DOM 1 81 Cytoplasmic (By similarity).
FT TRANSMEM 82 106 M1 (By similarity).
FT TOPO_DOM 107 128 Extracellular (By similarity).
FT TOPO_DOM 148 156 Extracellular (By similarity).
FT TRANSMEM 157 178 M2 (By similarity).
FT TOPO_DOM 179 427 Cytoplasmic (By similarity).
FT REGION 129 140 H5 (pore-forming helix) (By similarity).
FT MOTIF 142 147 Selectivity filter (By similarity).
FT MOTIF 425 427 PDZ-binding (Potential).
FT SITE 172 172 Role in the control of polyamine-mediated
FT channel gating and in the blocking by
FT intracellular magnesium (By similarity).
FT VARIANT 67 67 R -> W (in Andersen syndrome).
FT /FTId=VAR_017851.
FT VARIANT 71 71 D -> V (in Andersen syndrome; loss of
FT function and dominant-negative effect in
FT current).
FT /FTId=VAR_017852.
FT VARIANT 95 98 Missing (in Andersen syndrome).
FT /FTId=VAR_017853.
FT VARIANT 186 186 P -> L (in Andersen syndrome).
FT /FTId=VAR_017854.
FT VARIANT 216 216 N -> H (in Andersen syndrome).
FT /FTId=VAR_017855.
FT VARIANT 218 218 R -> W (in Andersen syndrome; loss of
FT function and dominant-negative effect in
FT current).
FT /FTId=VAR_017856.
FT VARIANT 300 300 G -> V (in Andersen syndrome).
FT /FTId=VAR_017857.
FT VARIANT 302 302 V -> M (in Andersen syndrome).
FT /FTId=VAR_017858.
FT VARIANT 314 315 Missing (in Andersen syndrome).
FT /FTId=VAR_017859.
FT CONFLICT 330 330 L -> F (in Ref. 4).
FT CONFLICT 340 340 D -> E (in Ref. 4).
SQ SEQUENCE 427 AA; 48288 MW; AB37CAD4B99B4050 CRC64;
MGSVRTNRYS IVSSEEDGMK LATMAVANGF GNGKSKVHTR QQCRSRFVKK DGHCNVQFIN
VGEKGQRYLA DIFTTCVDIR WRWMLVIFCL AFVLSWLFFG CVFWLIALLH GDLDASKEGK
ACVSEVNSFT AAFLFSIETQ TTIGYGFRCV TDECPIAVFM VVFQSIVGCI IDAFIIGAVM
AKMAKPKKRN ETLVFSHNAV IAMRDGKLCL MWRVGNLRKS HLVEAHVRAQ LLKSRITSEG
EYIPLDQIDI NVGFDSGIDR IFLVSPITIV HEIDEDSPLY DLSKQDIDNA DFEIVVILEG
MVEATAMTTQ CRSSYLANEI LWGHRYEPVL FEEKHYYKVD YSRFHKTYEV PNTPLCSARD
LAEKKYILSN ANSFCYENEV ALTSKEEDDS ENGVPESTST DTPPDIDLHN QASVPLEPRP
LRRESEI
//