Abstract
A novel human transcript CG-2 (C9ORF5), was isolated from the familial dysautonomia candidate region on 9q31 using a combination of cDNA selection and exon trapping. CG-2 was detected as a relatively abundant 8kb transcript in all adult and fetal tissues with the exception of adult thymus. Genomic analysis of CG-2 identified 18 exons that span more than 110kb. The gene encodes a 911-amino-acid protein with a predicted molecular weight of 101kDa and a hypothetical pI of 9.03. Sequence analysis of CG-2 indicates that it is likely to encode a transmembrane protein. Here, we assess CG-2 as a candidate for familial dysautonomia.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Amino Acid Sequence
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Animals
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Brain / embryology
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Brain / metabolism
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Caenorhabditis elegans / genetics
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Cell Line
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Chromosome Mapping
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Chromosomes, Human, Pair 9 / genetics
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Cloning, Molecular
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Cricetinae
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DNA / chemistry
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DNA / genetics
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DNA Mutational Analysis
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DNA, Complementary / chemistry
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DNA, Complementary / genetics
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DNA, Complementary / isolation & purification
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Databases, Factual
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Dysautonomia, Familial / genetics
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Expressed Sequence Tags
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Gene Expression
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Gene Expression Regulation, Developmental
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Genes / genetics*
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Genes, Helminth / genetics*
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Humans
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Hybrid Cells
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Membrane Proteins / genetics*
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Mice
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Molecular Sequence Data
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Rats
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Sequence Alignment
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Sequence Analysis, DNA
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Sequence Homology, Amino Acid
Substances
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DNA, Complementary
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Membrane Proteins
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TMEM245 protein, human
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DNA