Entry - *139240 - GROWTH HORMONE 2; GH2 - OMIM

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The GH2 gene differs from the GH1 gene by the presence of a GT-to-AT transition at the 5-prime donor splice site of intron 2 (Chen et al., 1989). A cryptic site develops at nucleotide +19.

Boguszewski et al. (1998) noted that the GHN (GH1) and GHV (GH2) genes consist of 5 exons. They examined alternative splicing of GHV transcripts. The coding region of the GHV gene was amplified by RT-PCR using placental cDNA as template. DNA sequencing of several clones revealed 2 novel transcripts. One transcript isoform had a 45-bp deletion caused by the use of an alternative 3-prime splice site in exon 3, similar to that in the GH1 gene, and is predicted to encode a 20-kD GHV protein isoform. The other transcript isoform arose by the use of an alternative 5-prime splice site which caused a 4-bp deletion in the end of exon 4 and is predicted to encode a 24-kD protein with 219 amino acids, which the authors referred to as GHV3. The carboxy-terminal sequence of GHV3 differs from those of 22-kD GHV and GHV2, the 2 previously reported transcripts of the GHV gene, and does not contain a predicted transmembrane domain as described for GHV2. The authors concluded that the GHV transcript undergoes alternative splicing pathways that can generate at least 4 different mRNA isoforms, predicting the expression of different GH protein products, including 2 with a complete sequence divergence in the carboxy terminus.

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