Kir2.1 usmjerivač kalij-ionskog kanala prema unutra je lipidno usidreni kanal kodiran genom KCNJ2.[5][6][7][8]

KCNJ2
Identifikatori
AliasiKCNJ2
Vanjski ID-jeviOMIM: 600681 MGI: 104744 HomoloGene: 20249 GeneCards: KCNJ2
Lokacija gena (čovjek)
Hromosom 17 (čovjek)
Hrom.Hromosom 17 (čovjek)[1]
Hromosom 17 (čovjek)
Genomska lokacija za KCNJ2
Genomska lokacija za KCNJ2
Bend17q24.3Početak70,168,673 bp[1]
Kraj70,180,044 bp[1]
Lokacija gena (miš)
Hromosom 11 (miš)
Hrom.Hromosom 11 (miš)[2]
Hromosom 11 (miš)
Genomska lokacija za KCNJ2
Genomska lokacija za KCNJ2
Bend11 E2|11 75.23 cMPočetak110,956,990 bp[2]
Kraj110,967,647 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
voltage-gated ion channel activity
identical protein binding
phosphatidylinositol-4,5-bisphosphate binding
inward rectifier potassium channel activity
G-protein activated inward rectifier potassium channel activity
Ćelijska komponenta integral component of membrane
rough endoplasmic reticulum
Golđijev aparat
membrana
Interkalirani disk
T-tubule
voltage-gated potassium channel complex
Ćelijska membrana
dendritična kičma
integral component of plasma membrane
smooth endoplasmic reticulum
neuronal cell body
dendrit
intrinsic component of membrane
Biološki proces cardiac muscle cell action potential
regulation of ion transmembrane transport
magnesium ion transport
cardiac muscle cell action potential involved in contraction
ion transport
GO:0097301 cellular potassium ion homeostasis
potassium ion transport
regulation of cardiac muscle cell contraction
cellular response to mechanical stimulus
membrane repolarization during action potential
potassium ion transmembrane transport
positive regulation of potassium ion transmembrane transport
regulation of skeletal muscle contraction via regulation of action potential
regulation of resting membrane potential
regulation of membrane repolarization
relaxation of skeletal muscle
regulation of heart rate by cardiac conduction
membrane repolarization during cardiac muscle cell action potential
protein homotetramerization
relaxation of cardiac muscle
membrane depolarization during cardiac muscle cell action potential
potassium ion import across plasma membrane
cardiac conduction
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_000891

NM_008425

RefSeq (bjelančevina)

NP_000882

NP_032451

Lokacija (UCSC)Chr 17: 70.17 – 70.18 MbChr 11: 110.96 – 110.97 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 427 aminokiselina, a molekulska težina 48.288 Da.[9]

Simboli
1020304050
MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKK
DGHCNVQFINVGEKGQRYLADIFTTCVDIRWRWMLVIFCLAFVLSWLFFG
CVFWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCV
TDECPIAVFMVVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAV
IAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEGEYIPLDQIDI
NVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEG
MVEATAMTTQCRSSYLANEILWGHRYEPVLFEEKHYYKVDYSRFHKTYEV
PNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTST
DTPPDIDLHNQASVPLEPRPLRRESEI

Klinički značaj uredi

Defekt ovog gena povezan je sa Andersen–Tawilovim sindromom.[10]

Pokazalo se da i mutacija gena KCNJ2 uzrokuje sindrom kratkog QT.[11]

Istraživanje uredi

U neurogenetici, Kir2.1 se koristi u istraživanju voćnih mušica roda Drosophila, za inhibiranje neurona, jer prekomjerna ekspresija ovog kanala hiperpolarizira ćelije.

U optogenetici, sekvenca prometa Kir2.1 dodata je u halorodopsin radi poboljšanja lokalizacije njegove membrane. Dobijeni protein eNpHR3.0 koristi se u optogenetičkim istraživanjima za inhibiciju neurona svetlošću.[12]

Ekspresija gena Kir2.1 u ljudskim ćelijama HEK293 inducira privremenu vanjsku struju, stvarajući postojani membranski potencijal, blizu potencijala preokreta kalija.[13]

Interakcije uredi

Pokazano je da Kir2.1 međureagira sa:

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000123700 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041695 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hansen, SB (maj 2015). "Lipid agonism: The PIP2 paradigm of ligand-gated ion channels". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1851 (5): 620–8. doi:10.1016/j.bbalip.2015.01.011. PMC 4540326. PMID 25633344.
  6. ^ Raab-Graham KF, Radeke CM, Vandenberg CA (1994). "Molecular cloning and expression of a human heart inward rectifier potassium channel". NeuroReport. 5 (18): 2501–5. doi:10.1097/00001756-199412000-00024. PMID 7696590.
  7. ^ Derst C, Karschin C, Wischmeyer E, Hirsch JR, Preisig-Müller R, Rajan S, Engel H, Grzeschik K, Daut J, Karschin A (2001). "Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits". FEBS Lett. 491 (3): 305–11. doi:10.1016/S0014-5793(01)02202-5. PMID 11240146. S2CID 14452157.
  8. ^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol. Rev. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. S2CID 11588492.
  9. ^ "UniProt, P63252". Pristupljeno 25. 6. 2021.
  10. ^ Donaldson MR, Yoon G, Fu YH, Ptacek LJ (2004). "Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity". Ann. Med. 36 Suppl 1: 92–7. doi:10.1080/17431380410032490. PMID 15176430. S2CID 7362563.
  11. ^ Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, di Barletta MR, Gudapakkam S, Bosi G, Stramba-Badiale M, Jalife J (april 2005). "A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene". Circ. Res. 96 (7): 800–7. doi:10.1161/01.RES.0000162101.76263.8c. PMID 15761194.
  12. ^ Gradinaru V, Zhang F, Ramakrishnan C, Mattis J, Prakash R, Diester I, Goshen I, Thompson KR, Deisseroth K (april 2010). "Molecular and cellular approaches for diversifying and extending optogenetics". Cell. 141 (1): 154–65. doi:10.1016/j.cell.2010.02.037. PMC 4160532. PMID 20303157.
  13. ^ Zhang, De-Yong; Lau, Chu-Pak; Li, Gui-Rong (1. 4. 2009). "Human Kir2.1 channel carries a transient outward potassium current with inward rectification". Pflügers Archiv: European Journal of Physiology. 457 (6): 1275–1285. doi:10.1007/s00424-008-0608-0. ISSN 1432-2013. PMID 19002489. S2CID 3120804.
  14. ^ Nehring RB, Wischmeyer E, Döring F, Veh RW, Sheng M, Karschin A (2000). "Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family". J. Neurosci. 20 (1): 156–62. doi:10.1523/JNEUROSCI.20-01-00156.2000. PMC 6774109. PMID 10627592.
  15. ^ Kurschner C, Yuzaki M (1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". J. Neurosci. 19 (18): 7770–80. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMC 6782450. PMID 10479680.
  16. ^ Grishin A, Li H, Levitan ES, Zaks-Makhina E (2006). "Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1". J. Biol. Chem. 281 (40): 30104–11. doi:10.1074/jbc.M602439200. PMID 16895905.

Dopunska literatura uredi

Vanjski linkovi uredi