KCNJ12

KCNJ12
Identifiers
Aliases	KCNJ12,IRK-2, IRK2, KCNJN1, Kir2.2, Kir2.2v, hIRK, hIRK1, hkir2.2x, kcnj12x, potassium voltage-gated channel subfamily J member 12, potassium inwardly rectifying channel subfamily J member 12
External IDs	OMIM:602323;MGI:108495;HomoloGene:7793;GeneCards:KCNJ12;OMA:KCNJ12 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17p11.2 Start 21,376,357bp End 21,419,870bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 B2|11 37.96 cM Start 60,913,390bp End 60,961,957bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in Skeletal muscle tissue of rectus abdominis cerebellar vermis muscle of thigh cerebellar hemisphere right hemisphere of cerebellum gastrocnemius muscle quadriceps femoris muscle vastus lateralis muscle tibialis anterior muscle Skeletal muscle tissue of biceps brachii Top expressed in muscle of thigh cerebellar cortex lumbar spinal ganglion sternocleidomastoid muscle lens triceps brachii muscle skeletal muscle tissue knee joint temporal muscle quadriceps femoris muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function inward rectifier potassium channel activity voltage-gated ion channel activity G-protein activated inward rectifier potassium channel activity protein binding Cellular component integral component of membrane intrinsic component of membrane plasma membrane integral component of plasma membrane membrane Biological process potassium ion transport regulation of ion transmembrane transport muscle contraction regulation of heart contraction protein homotetramerization ion transport potassium ion import across plasma membrane cardiac conduction Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 3768 16515 Ensembl ENSG00000184185 ENSMUSG00000042529 UniProt Q14500 P52187 RefSeq (mRNA) NM_021012 NM_001267593 NM_010603 RefSeq (protein) NP_066292 NP_001254522 NP_034733 Location (UCSC) Chr 17: 21.38 – 21.42 Mb Chr 11: 60.91 – 60.96 Mb PubMedsearch
Wikidata
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ATP-sensitive inward rectifier potassium channel 12is alipid-gated ion channelthat in humans is encoded by theKCNJ12gene.

Function

This gene encodes aninwardly rectifying K⁺channelthat may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels that contribute to the cardiac inward rectifier current (IK1). The gene is located within theSmith–Magenis syndromeregion on chromosome 17.

Interactions

KCNJ12 has been shown tointeractwith:

• APBA1,
• CASK,
• DLG1,
• DLG2,
• DLG3,
• DLG4,
• LIN7A
• LIN7B,and
• LIN7C.

See also

• Inward-rectifier potassium channel

Further reading

• Namba N, Inagaki N, Gonoi T, Seino Y, Seino S (May 1996)."Kir2.2v: a possible negative regulator of the inwardly rectifying K+ channel Kir2.2".FEBS Letters.386(2–3): 211–4.Bibcode:1996FEBSL.386..211N.doi:10.1016/0014-5793(96)00445-0.PMID8647284.S2CID44673403.
• Hugnot JP, Pedeutour F, Le Calvez C, Grosgeorge J, Passage E, Fontes M, Lazdunski M (Jan 1997). "The human inward rectifying K+ channel Kir 2.2 (KCNJ12) gene: gene structure, assignment to chromosome 17p11.1, and identification of a simple tandem repeat polymorphism".Genomics.39(1): 113–6.doi:10.1006/geno.1996.4450.PMID9027495.
• Gallagher PG, Forget BG (Jan 1998)."An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene".The Journal of Biological Chemistry.273(3): 1339–48.doi:10.1074/jbc.273.3.1339.PMID9430667.
• Namba N, Mori R, Tanaka H, Kondo I, Narahara K, Seino Y (1998). "The inwardly rectifying potassium channel subunit Kir2.2v (KCNJN1) maps to 17p11.2→p11.1".Cytogenetics and Cell Genetics.79(1–2): 85–7.doi:10.1159/000134688.PMID9533018.
• Leonoudakis D, Mailliard W, Wingerd K, Clegg D, Vandenberg C (Mar 2001)."Inward rectifier potassium channel Kir2.2 is associated with synapse-associated protein SAP97".Journal of Cell Science.114(Pt 5): 987–98.doi:10.1242/jcs.114.5.987.PMID11181181.
• Preisig-Müller R, Schlichthörl G, Goerge T, Heinen S, Brüggemann A, Rajan S, Derst C, Veh RW, Daut J (May 2002)."Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome".Proceedings of the National Academy of Sciences of the United States of America.99(11): 7774–9.Bibcode:2002PNAS...99.7774P.doi:10.1073/pnas.102609499.PMC124349.PMID12032359.
• Chen L, Kawano T, Bajic S, Kaziro Y, Itoh H, Art JJ, Nakajima Y, Nakajima S (Jun 2002)."A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome".Proceedings of the National Academy of Sciences of the United States of America.99(12): 8430–5.Bibcode:2002PNAS...99.8430C.doi:10.1073/pnas.122682899.PMC123084.PMID12034888.
• Karkanis T, Li S, Pickering JG, Sims SM (Jun 2003). "Plasticity of KIR channels in human smooth muscle cells from internal thoracic artery".American Journal of Physiology. Heart and Circulatory Physiology.284(6): H2325–34.doi:10.1152/ajpheart.00559.2002.PMID12598232.
• Stonehouse AH, Grubb BD, Pringle JH, Norman RI, Stanfield PR, Brammar WJ (Apr 2003). "Nuclear immunostaining in rat neuronal cells using two anti-Kir2.2 ion channel polyclonal antibodies".Journal of Molecular Neuroscience.20(2): 189–94.doi:10.1385/JMN:20:2:189.PMID12794312.S2CID34958415.
• Leonoudakis D, Conti LR, Radeke CM, McGuire LM, Vandenberg CA (Apr 2004)."A multiprotein trafficking complex composed of SAP97, CASK, Veli, and Mint1 is associated with inward rectifier Kir2 potassium channels".The Journal of Biological Chemistry.279(18): 19051–63.doi:10.1074/jbc.M400284200.PMID14960569.
• Leonoudakis D, Conti LR, Anderson S, Radeke CM, McGuire LM, Adams ME, Froehner SC, Yates JR, Vandenberg CA (May 2004)."Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins".The Journal of Biological Chemistry.279(21): 22331–46.doi:10.1074/jbc.M400285200.PMID15024025.
• Fang Y, Schram G, Romanenko VG, Shi C, Conti L, Vandenberg CA, Davies PF, Nattel S, Levitan I (Nov 2005). "Functional expression of Kir2.x in human aortic endothelial cells: the dominant role of Kir2.2".American Journal of Physiology. Cell Physiology.289(5): C1134–44.doi:10.1152/ajpcell.00077.2005.PMID15958527.S2CID11840480.
• Kiesecker C, Zitron E, Scherer D, Lueck S, Bloehs R, Scholz EP, Pirot M, Kathöfer S, Thomas D, Kreye VA, Kiehn J, Borst MM, Katus HA, Schoels W, Karle CA (Jan 2006). "Regulation of cardiac inwardly rectifying potassium current IK1 and Kir2.x channels by endothelin-1".Journal of Molecular Medicine.84(1): 46–56.doi:10.1007/s00109-005-0707-8.PMID16258766.S2CID2081384.

External links

• Kir2.2+channelat the U.S. National Library of MedicineMedical Subject Headings(MeSH)

This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.