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Link to original content: https://omim.org/entry/603788
Alternative titles; symbols
HGNC Approved Gene Symbol: KCNG1
Cytogenetic location: 20q13.13 Genomic coordinates (GRCh38) : 20:51,003,656-51,023,107 (from NCBI)
Voltage-gated potassium channels are a family of plasma membrane proteins containing 6 putative transmembrane domains. See KCNA1 (176260). Su et al. (1997) identified ESTs encoding 2 novel putative potassium channels, KH1 (603787) and KH2. By screening a fetal brain library with a probe derived from the KH2 EST, they isolated cDNAs corresponding to the entire KH2 coding region. Sequence analysis indicated that KH2 is a human homolog of the rat K13 protein. Northern blot analysis revealed KH2 expression as an abundant 2-kb mRNA in skeletal muscle. A 2.4-kb transcript was detected in placenta and brain, and at lower levels in kidney and pancreas.
Su et al. (1997) determined that the predicted 510-amino acid human protein contains 6 putative transmembrane domains.
By fluorescence in situ hybridization, Su et al. (1997) mapped the KCNG1 gene to 20q13.
In connection with an examination of the sequence homology between human chromosome 20 and mouse chromosome 2, Zhu et al. (2003) listed KCNG1 as one of the many homologous genes on these chromosomes. The relative position of each of 460 putative coding orthologs was the same in both species, except for a single genomic segment rearrangement. This similarity extended to exon/intron structure and the size of introns, as well as providing strong evidence for the conservation of position of ancient LINE-1, LINE-2, and LTR repetitive sequence. There was also evidence for conservation of the limited amount of noncoding single-copy sequence, including that of pseudogenes and introns.
Su, K., Kyaw, H., Fan, P., Zeng, Z., Shell, B. K., Carter, K. C., Li, Y. Isolation, characterization, and mapping of two human potassium channels. Biochem. Biophys. Res. Commun. 241: 675-681, 1997. [PubMed: 9434767] [Full Text: https://doi.org/10.1006/bbrc.1997.7830]
Zhu, L., Swergold, G. D., Seldin, M. F. Examination of sequence homology between human chromosome 20 and the mouse genome: intense conservation of many genomic elements. Hum. Genet. 113: 60-70, 2003. [PubMed: 12644935] [Full Text: https://doi.org/10.1007/s00439-003-0920-x]