KCNRG (original) (raw)

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Protein-coding gene in the species Homo sapiens

KCNRG
Identifiers
Aliases	KCNRG, DLTET, potassium channel regulator
External IDs	OMIM: 607947; MGI: 2685591; HomoloGene: 35259; GeneCards: KCNRG; OMA:KCNRG - orthologs
Gene location (Human)Chr.Chromosome 13 (human)[1]Band13q14.2Start50,015,254 bp[1]End50,020,922 bp[1]
Gene location (Mouse)Chr.Chromosome 14 (mouse)[2]Band14|14 D1Start61,844,906 bp[2]End61,850,275 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright uterine tubeolfactory zone of nasal mucosaepithelium of colonendometriumstromal cell of endometriumsural nerveright lungcorpus callosumventricular zoneAchilles tendonTop expressed inblastocystgranulocyteembryomorulalungganglionic eminenceovarybone marrowthymusventricular zoneMore reference expression dataBioGPSn/a
Gene ontologyMolecular function protein binding identical protein binding Cellular component endoplasmic reticulum Biological process protein homooligomerization negative regulation of delayed rectifier potassium channel activity Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez283518328424EnsemblENSG00000198553ENSMUSG00000046168UniProtQ8N5I3Q2TUM3RefSeq (mRNA)NM_199464NM_173605NM_001039105NM_206974RefSeq (protein)NP_775876NP_955751NP_001034194NP_996857Location (UCSC)Chr 13: 50.02 – 50.02 MbChr 14: 61.84 – 61.85 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Potassium channel regulator, also known as KCNRG, is a protein which in humans is encoded by the_KCNRG_ gene.[5][6]

KCNRG is a soluble protein with characteristics suggesting it forms hetero-tetramers with voltage-gated K+ channels and inhibits their function.[5]

Clinical significance

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KCNRG has been found to be predominantly expressed in lung tissue. Additionally, KCNRG transcripts are also found in liver and some other tissues, but in lower extent. Researchers at Uppsala University have found that KCNRG is found in the lower lung and constitutes an autoantigen in a rare disorder named autoimmune polyendocrine syndrome type 1 (APS1). As a subset of patients with APS1 suffer from respiratory disease, an autoimmune reaction against KCNRG may explain the respiratory disease in these patients. KCNRG may also be connected to common nonfatal diseases like asthma and chronic bronchitis.[7]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198553 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046168 – Ensembl, May 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. ^ a b "Entrez Gene: KCNRG potassium channel regulator".
6. ^ Ivanov DV, Tyazhelova TV, Lemonnier L, Kononenko N, Pestova AA, Nikitin EA, Prevarskaya N, Skryma R, Panchin YV, Yankovsky NK, Baranova AV (March 2003). "A new human gene KCNRG encoding potassium channel regulating protein is a cancer suppressor gene candidate located in 13q14.3". FEBS Lett. 539 (1–3): 156–60. doi:10.1016/S0014-5793(03)00211-4. PMID 12650944.
7. ^ Alimohammadi M, Dubois N, Sköldberg F, Hallgren A, Tardivel I, Hedstrand H, Haavik J, Husebye ES, Gustafsson J, Rorsman F, Meloni A, Janson C, Vialettes B, Kajosaari M, Egner W, Sargur R, Pontén F, Amoura Z, Grimfeld A, De Luca F, Betterle C, Perheentupa J, Kämpe O, Carel JC (February 2009). "Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen". Proc. Natl. Acad. Sci. U.S.A. 106 (11): 4396–401. Bibcode:2009PNAS..106.4396A. doi:10.1073/pnas.0809986106. PMC 2648890. PMID 19251657.

• Cho YG, Kim CJ, Song JH, et al. (2006). "Genetic and expression analysis of the KCNRG gene in hepatocellular carcinomas". Exp. Mol. Med. 38 (3): 247–55. doi:10.1038/emm.2006.30. PMID 16819283.
• Skoblov M, Shakhbazov K, Oshchepkov D, et al. (2006). "Human RFP2 gene promoter: Unique structure and unusual strength". Biochem. Biophys. Res. Commun. 342 (3): 859–66. doi:10.1016/j.bbrc.2006.01.187. PMC 1994241. PMID 16499869.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Corcoran MM, Hammarsund M, Zhu C, et al. (2004). "DLEU2 encodes an antisense RNA for the putative bicistronic RFP2/LEU5 gene in humans and mouse". Genes Chromosomes Cancer. 40 (4): 285–97. doi:10.1002/gcc.20046. PMID 15188451. S2CID 35917986.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Ivanov DV, Tyazhelova TV, Lemonnier L, et al. (2003). "A new human gene KCNRG encoding potassium channel regulating protein is a cancer suppressor gene candidate located in 13q14.3". FEBS Lett. 539 (1–3): 156–60. doi:10.1016/S0014-5793(03)00211-4. PMID 12650944.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.