Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A

Biochem Biophys Res Commun. 2000 Jan 7;267(1):262-70. doi: 10.1006/bbrc.1999.1916.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Brain / metabolism*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Cloning, Molecular
  • DNA Primers
  • DNA, Complementary
  • Female
  • Humans
  • Karyotyping
  • Male
  • Mammals
  • Molecular Sequence Data
  • Organ Specificity
  • Placenta / metabolism
  • Pregnancy
  • Rats
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / drug effects
  • Recombinant Proteins / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sodium Channels / chemistry
  • Sodium Channels / genetics*
  • Sodium Channels / physiology
  • Spinal Cord / metabolism
  • Tetrodotoxin / pharmacology

Substances

  • DNA Primers
  • DNA, Complementary
  • Recombinant Proteins
  • Sodium Channels
  • Tetrodotoxin

Associated data

  • GENBANK/AF109737
  • GENBANK/AF150882