KCNRG

KCNRG
Identifiers
Aliases	KCNRG , DLTET, potassium channel regulator
External IDs	OMIM: 607947 MGI: 2685591 HomoloGene: 35259 GeneCards: KCNRG
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q14.2 Start 50,015,254 bp [1] End 50,020,922 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14|14 D1 Start 61,844,906 bp [2] End 61,850,275 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube endometrium stromal cell of endometrium sural nerve right lung corpus callosum Achilles tendon skeletal muscle tissue bone marrow left uterine tube Top expressed in morula lung ganglionic eminence ovary bone marrow thymus esophagus blastocyst liver secondary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular 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
Orthologs Species Human Mouse Entrez 283518 328424 Ensembl ENSG00000198553 ENSMUSG00000046168 UniProt Q8N5I3 Q2TUM3 RefSeq (mRNA) NM_199464 NM_173605 NM_001039105 NM_206974 RefSeq (protein) NP_775876 NP_955751 NP_001034194 NP_996857 Location (UCSC) Chr 13: 50.02 – 50.02 Mb Chr 14: 61.84 – 61.85 Mb PubMed search [3] [4]
Wikidata
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Potassium channel regulator, also known as KCNRG, is a protein which in humans is encoded by theKCNRG gene. ^{[5] [6]}

Function

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

Clinical significance

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]

References

1. GRCh38: Ensembl release 89: ENSG00000198553 - Ensembl, May 2017
2. 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. "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.

Further reading

• 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.