Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene

Gene. 1999 Nov 15;240(1):67-73. doi: 10.1016/s0378-1119(99)00432-1.

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

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Animals
  • Brain / embryology
  • Brain / metabolism
  • Caenorhabditis elegans / genetics
  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9 / genetics
  • Cloning, Molecular
  • Cricetinae
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • DNA, Complementary / isolation & purification
  • Databases, Factual
  • Dysautonomia, Familial / genetics
  • Expressed Sequence Tags
  • Gene Expression
  • Gene Expression Regulation, Developmental
  • Genes / genetics*
  • Genes, Helminth / genetics*
  • Humans
  • Hybrid Cells
  • Membrane Proteins / genetics*
  • Mice
  • Molecular Sequence Data
  • Rats
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid

Substances

  • DNA, Complementary
  • Membrane Proteins
  • TMEM245 protein, human
  • DNA

Associated data

  • GENBANK/AF153415