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HPMR

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Potassium Channel, Voltage-gated, Shaker-related Subfamily, Member 2 OKDB#: 3230
 Symbols: KCNA2 Species: human
 Synonyms: HK4, MK2, HBK5, NGK1, RBK2, HUKIV, KV1.2, MGC50217,MK2, MOUSE, HOMOLOG OF|KV1.2  Locus: 1p13 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1.
General function
Comment
Cellular localization
Comment
Ovarian function Oogenesis, Oocyte maturation
Comment Gene whose expression is detected by cDNA array hybridization: oncogenes, tumor suppressors, cell cycle regulators Rozenn Dalbis-Tran and Pascal Mermilloda
Expression regulated by
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Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: June 22, 2006, 11:14 a.m. by: alex   email:
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last update: July 25, 2006, 2:56 p.m. by: Alex    email:



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