title: Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene.
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.
authors.affiliation: Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA, USA.
authors.forename: B P
authors.initials: BP
authors.lastname: Chadwick
authors.forename: S
authors.initials: S
authors.lastname: Gill
authors.forename: M
authors.initials: M
authors.lastname: Leyne
authors.forename: J
authors.initials: J
authors.lastname: Mull
authors.forename: C B
authors.initials: CB
authors.lastname: Liebert
authors.forename: C M
authors.initials: CM
authors.lastname: Robbins
authors.forename: H W
authors.initials: HW
authors.lastname: Pinkett
authors.forename: I
authors.initials: I
authors.lastname: Makalowska
authors.forename: C
authors.initials: C
authors.lastname: Maayan
authors.forename: A
authors.initials: A
authors.lastname: Blumenfeld
authors.forename: F B
authors.initials: FB
authors.lastname: Axelrod
authors.forename: M
authors.initials: M
authors.lastname: Brownstein
authors.forename: S A
authors.initials: SA
authors.lastname: Slaugenhaupt
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001921:Brain / Q000196:embryology / Q000378:metabolism; D017173:Caenorhabditis elegans / Q000235:genetics; D002460:Cell Line; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003001:Cloning, Molecular; D006224:Cricetinae; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification; D016208:Databases, Factual; D004402:Dysautonomia, Familial / Q000235:genetics; D020224:Expressed Sequence Tags; D015870:Gene Expression; D018507:Gene Expression Regulation, Developmental; D005796:Genes / Q000235:genetics*; D017238:Genes, Helminth / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D051381:Rats; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid
chemical_list: D018076:DNA, Complementary; D008565:Membrane Proteins; C402627:TMEM245 protein, human; D004247:DNA