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)

Q14500

- KCJ12_HUMAN

UniProt

Q14500 - KCJ12_HUMAN

Protein

ATP-sensitive inward rectifier potassium channel 12

Gene

KCNJ12

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 142 (01 Oct 2014)
      Sequence version 2 (11 Oct 2005)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that probably participates in controlling the resting membrane potential in electrically excitable cells. 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.4 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei173 – 1731Role 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

    GO - Biological processi

    1. muscle contraction Source: ProtInc
    2. potassium ion transmembrane transport Source: GOC
    3. potassium ion transport Source: UniProtKB
    4. protein homotetramerization Source: UniProtKB
    5. regulation of heart contraction Source: ProtInc
    6. 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.2.1.9. inward rectifier k(+) channel (irk-c) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 12
    Alternative name(s):
    Inward rectifier K(+) channel Kir2.2
    Short name:
    IRK-2
    Inward rectifier K(+) channel Kir2.2v
    Potassium channel, inwardly rectifying subfamily J member 12
    Gene namesi
    Name:KCNJ12
    Synonyms:IRK2, KCNJN1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6258. KCNJ12.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. intrinsic component of membrane Source: UniProtKB
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA218.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 433433ATP-sensitive inward rectifier potassium channel 12PRO_0000154962Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi155 – 155InterchainBy similarity

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    PaxDbiQ14500.
    PRIDEiQ14500.

    PTM databases

    PhosphoSiteiQ14500.

    Expressioni

    Gene expression databases

    BgeeiQ14500.
    GenevestigatoriQ14500.

    Organism-specific databases

    HPAiHPA027021.

    Interactioni

    Subunit structurei

    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. Homotetramer. Forms heteromer with KCNJ4.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi109970. 17 interactions.
    STRINGi9606.ENSP00000328150.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14500.
    SMRiQ14500. Positions 42-372.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8282CytoplasmicBy similarityAdd
    BLAST
    Topological domaini108 – 12316ExtracellularBy similarityAdd
    BLAST
    Topological domaini152 – 1565ExtracellularBy similarity
    Topological domaini182 – 433252CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei124 – 1285By similarity
    Intramembranei129 – 14113Helical; Pore-forming; Name=H5By similarityAdd
    BLAST
    Intramembranei142 – 15110Pore-formingBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei83 – 10725Helical; Name=M1By similarityAdd
    BLAST
    Transmembranei157 – 18125Helical; Name=M2By similarityAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi79 – 813Interaction with phosphatidylinositidesBy similarity
    Motifi143 – 1486Selectivity filterBy similarity
    Motifi183 – 1908Interaction with phosphatidylinositidesBy similarity
    Motifi431 – 4333PDZ-bindingSequence Analysis

    Domaini

    Phosphatidylinositol 4,5-bisphosphate binding to the cytoplasmic side of the channel triggers a conformation change leading to channel opening.By similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG72812.
    HOGENOMiHOG000237325.
    HOVERGENiHBG006178.
    InParanoidiQ14500.
    KOiK05005.
    OMAiCFMIGAI.
    OrthoDBiEOG7XPZ5K.
    PhylomeDBiQ14500.
    TreeFamiTF313676.

    Family and domain databases

    Gene3Di2.60.40.1400. 1 hit.
    InterProiIPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003272. K_chnl_inward-rec_Kir2.2.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    IPR013673. K_chnl_inward-rec_Kir_N.
    [Graphical view]
    PANTHERiPTHR11767. PTHR11767. 1 hit.
    PTHR11767:SF14. PTHR11767:SF14. 1 hit.
    PfamiPF01007. IRK. 1 hit.
    PF08466. IRK_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF005465. GIRK_kir. 1 hit.
    PRINTSiPR01325. KIR22CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMiSSF81296. SSF81296. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q14500-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTAASRANPY SIVSSEEDGL HLVTMSGANG FGNGKVHTRR RCRNRFVKKN    50
    GQCNIEFANM DEKSQRYLAD MFTTCVDIRW RYMLLIFSLA FLASWLLFGI 100
    IFWVIAVAHG DLEPAEGRGR TPCVMQVHGF MAAFLFSIET QTTIGYGLRC 150
    VTEECPVAVF MVVAQSIVGC IIDSFMIGAI MAKMARPKKR AQTLLFSHNA 200
    VVALRDGKLC LMWRVGNLRK SHIVEAHVRA QLIKPRVTEE GEYIPLDQID 250
    IDVGFDKGLD RIFLVSPITI LHEIDEASPL FGISRQDLET DDFEIVVILE 300
    GMVEATAMTT QARSSYLANE ILWGHRFEPV LFEEKNQYKI DYSHFHKTYE 350
    VPSTPRCSAK DLVENKFLLP SANSFCYENE LAFLSRDEED EADGDQDGRS 400
    RDGLSPQARH DFDRLQAGGG VLEQRPYRRE SEI 433
    Length:433
    Mass (Da):49,001
    Last modified:October 11, 2005 - v2
    Checksum:i082027A1765B6F4E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti43 – 431R → H in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti71 – 711M → I in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti139 – 1391E → K in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti142 – 1421T → N in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti145 – 1451G → S in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti173 – 1731D → N in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti184 – 1841M → V in AAC01951. (PubMed:9430667)Curated
    Sequence conflicti185 – 1851A → V in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti211 – 2111L → F in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti239 – 2391E → K in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti261 – 2622RI → HS in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti285 – 2851Missing in AAA65122. (PubMed:7859381)Curated
    Sequence conflicti289 – 2902ET → QM in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti297 – 2971V → I in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti302 – 3021M → I in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti334 – 3341Missing in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti335 – 3351Missing in AAC01951. (PubMed:9430667)Curated
    Sequence conflicti343 – 3431S → L in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti371 – 3711S → R in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti378 – 3781E → K in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti402 – 4021D → E in AAC50615. (PubMed:8647284)Curated
    Sequence conflicti405 – 4051S → I in AAC50615. (PubMed:8647284)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61R → Q.
    Corresponds to variant rs3752032 [ dbSNP | Ensembl ].
    VAR_024509
    Natural varianti15 – 151S → L.
    Corresponds to variant rs1657738 [ dbSNP | Ensembl ].
    VAR_049671
    Natural varianti100 – 1001I → V.1 Publication
    Corresponds to variant rs8076599 [ dbSNP | Ensembl ].
    VAR_059365
    Natural varianti118 – 1181R → Q.
    Corresponds to variant rs1657740 [ dbSNP | Ensembl ].
    VAR_059366
    Natural varianti156 – 1561P → L.
    Corresponds to variant rs1714864 [ dbSNP | Ensembl ].
    VAR_049672
    Natural varianti192 – 1921Q → H.
    Corresponds to variant rs1657742 [ dbSNP | Ensembl ].
    VAR_059367
    Natural varianti249 – 2491I → V.
    Corresponds to variant rs4985866 [ dbSNP | Ensembl ].
    VAR_049673
    Natural varianti430 – 4301E → G.
    Corresponds to variant rs5021699 [ dbSNP | Ensembl ].
    VAR_059368

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L36069 mRNA. Translation: AAA65122.1.
    U53143 Genomic DNA. Translation: AAC50615.1.
    AB074970 Genomic DNA. Translation: BAC02718.1.
    AB182123 mRNA. Translation: BAD23901.1.
    BC027982 mRNA. Translation: AAH27982.1.
    AF005214 mRNA. Translation: AAC01951.1.
    CCDSiCCDS11219.1.
    PIRiI52864.
    S71341.
    RefSeqiNP_066292.2. NM_021012.4.
    XP_005256682.1. XM_005256625.2.
    UniGeneiHs.200629.

    Genome annotation databases

    EnsembliENST00000331718; ENSP00000328150; ENSG00000184185.
    ENST00000583088; ENSP00000463778; ENSG00000184185.
    GeneIDi3768.
    KEGGihsa:3768.
    UCSCiuc002gyv.1. human.

    Polymorphism databases

    DMDMi77416868.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L36069 mRNA. Translation: AAA65122.1 .
    U53143 Genomic DNA. Translation: AAC50615.1 .
    AB074970 Genomic DNA. Translation: BAC02718.1 .
    AB182123 mRNA. Translation: BAD23901.1 .
    BC027982 mRNA. Translation: AAH27982.1 .
    AF005214 mRNA. Translation: AAC01951.1 .
    CCDSi CCDS11219.1.
    PIRi I52864.
    S71341.
    RefSeqi NP_066292.2. NM_021012.4.
    XP_005256682.1. XM_005256625.2.
    UniGenei Hs.200629.

    3D structure databases

    ProteinModelPortali Q14500.
    SMRi Q14500. Positions 42-372.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109970. 17 interactions.
    STRINGi 9606.ENSP00000328150.

    Chemistry

    DrugBanki DB00204. Dofetilide.
    GuidetoPHARMACOLOGYi 431.

    Protein family/group databases

    TCDBi 1.A.2.1.9. inward rectifier k(+) channel (irk-c) family.

    PTM databases

    PhosphoSitei Q14500.

    Polymorphism databases

    DMDMi 77416868.

    Proteomic databases

    PaxDbi Q14500.
    PRIDEi Q14500.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331718 ; ENSP00000328150 ; ENSG00000184185 .
    ENST00000583088 ; ENSP00000463778 ; ENSG00000184185 .
    GeneIDi 3768.
    KEGGi hsa:3768.
    UCSCi uc002gyv.1. human.

    Organism-specific databases

    CTDi 3768.
    GeneCardsi GC17P021532.
    HGNCi HGNC:6258. KCNJ12.
    HPAi HPA027021.
    MIMi 602323. gene.
    neXtProti NX_Q14500.
    PharmGKBi PA218.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG72812.
    HOGENOMi HOG000237325.
    HOVERGENi HBG006178.
    InParanoidi Q14500.
    KOi K05005.
    OMAi CFMIGAI.
    OrthoDBi EOG7XPZ5K.
    PhylomeDBi Q14500.
    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 KCNJ12.
    GenomeRNAii 3768.
    NextBioi 14775.
    PROi Q14500.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q14500.
    Genevestigatori Q14500.

    Family and domain databases

    Gene3Di 2.60.40.1400. 1 hit.
    InterProi IPR014756. Ig_E-set.
    IPR016449. K_chnl_inward-rec_Kir.
    IPR003272. K_chnl_inward-rec_Kir2.2.
    IPR013518. K_chnl_inward-rec_Kir_cyto.
    IPR013673. K_chnl_inward-rec_Kir_N.
    [Graphical view ]
    PANTHERi PTHR11767. PTHR11767. 1 hit.
    PTHR11767:SF14. PTHR11767:SF14. 1 hit.
    Pfami PF01007. IRK. 1 hit.
    PF08466. IRK_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005465. GIRK_kir. 1 hit.
    PRINTSi PR01325. KIR22CHANNEL.
    PR01320. KIRCHANNEL.
    SUPFAMi SSF81296. SSF81296. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and functional expression of an inwardly rectifying K+ channel from human atrium."
      Wible B.A., de Biasi M., Majumder K., Taglialatela M., Brown A.M.
      Circ. Res. 76:343-350(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION.
      Tissue: Heart atrium.
    2. "Kir2.2v: a possible negative regulator of the inwardly rectifying K+ channel Kir2.2."
      Namba N., Inagaki N., Gonoi T., Seino Y., Seino S.
      FEBS Lett. 386:211-214(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, SUBCELLULAR LOCATION, VARIANT VAL-100.
    3. "Identification of human Kir2.2 (KCNJ12) gene encoding functional inward rectifier potassium channel in both mammalian cells and Xenopus oocytes."
      Kaibara M., Ishihara K., Doi Y., Hayashi H., Ehara T., Taniyama K.
      FEBS Lett. 531:250-254(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, SUBCELLULAR LOCATION.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Eye.
    5. "An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene."
      Gallagher P.G., Forget B.G.
      J. Biol. Chem. 273:1339-1348(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 161-433.
      Tissue: Skeletal muscle.
    6. "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.
    7. "Direct and specific activation of human inward rectifier K+ channels by membrane phosphatidylinositol 4,5-bisphosphate."
      D'Avanzo N., Cheng W.W., Doyle D.A., Nichols C.G.
      J. Biol. Chem. 285:37129-37132(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiKCJ12_HUMAN
    AccessioniPrimary (citable) accession number: Q14500
    Secondary accession number(s): O43401, Q15756, Q8NG63
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: October 11, 2005
    Last modified: October 1, 2014
    This is version 142 of the entry and version 2 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