title: Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A.
abstract: We have cloned a cDNA encoding a novel human voltage-gated sodium channel alpha subunit gene, SCN12A, from human brain. Two alternative splicing variants for SCN12A have been identified. The longest open reading frame of SCN12A encodes 1791 amino acid residues. The deduced amino acid sequence of SCN12A shows 37-73% similarity with various other mammalian sodium channels. The presence of a serine residue (S360) in the SS2 segment of domain I suggests that SCN12A is resistant to tetrodotoxin (TTX), as in the cases of rat Scn10a (rPN3/SNS) and rat Scn11a (NaN/SNS2). SCN12A is expressed predominantly in olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine, and placenta. Although expression level could not be determined, SCN12A is also expressed in dorsal root ganglia (DRG). Both neurons and glial cells express SCN12A. SCN12A maps to human chromosome 3p23-p21.3. These results suggest that SCN12A is a tetrodotoxin-resistant (TTX-R) sodium channel expressed in the central nervous system and nonneural tissues.
authors.affiliation: CREST, Japan Science and Technology Corporation, Saitama, 332-0012, Japan. jeong-tky@umin.ac.jp
authors.forename: S Y
authors.initials: SY
authors.lastname: Jeong
authors.forename: J
authors.initials: J
authors.lastname: Goto
authors.forename: H
authors.initials: H
authors.lastname: Hashida
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: K
authors.initials: K
authors.lastname: Ogata
authors.forename: N
authors.initials: N
authors.lastname: Masuda
authors.forename: M
authors.initials: M
authors.lastname: Hirai
authors.forename: K
authors.initials: K
authors.lastname: Isahara
authors.forename: Y
authors.initials: Y
authors.lastname: Uchiyama
authors.forename: I
authors.initials: I
authors.lastname: Kanazawa
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D003001:Cloning, Molecular; D017931:DNA Primers; D018076:DNA, Complementary; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008322:Mammals; D008969:Molecular Sequence Data; D009928:Organ Specificity; D010920:Placenta / Q000378:metabolism; D011247:Pregnancy; D051381:Rats; D011994:Recombinant Proteins / Q000737:chemistry / Q000187:drug effects / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015222:Sodium Channels / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D013116:Spinal Cord / Q000378:metabolism; D013779:Tetrodotoxin / Q000494:pharmacology
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D011994:Recombinant Proteins; D015222:Sodium Channels; D013779:Tetrodotoxin