KCNRG

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

KCNRG
Identifiers
AliasesKCNRG, DLTET, potassium channel regulator
External IDsOMIM: 607947 MGI: 2685591 HomoloGene: 35259 GeneCards: KCNRG
Gene location (Human)
Chr.Chromosome 13 (human)[1]
Band13q14.2Start50,015,254 bp[1]
End50,020,922 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 14: 61.61 – 61.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. doi:10.1073/pnas.0809986106. PMC 2648890. PMID 19251657.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.