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. 2012 May;81(5):620–630. doi: 10.1124/mol.111.076604

TABLE 1.

Biological functions of transcript isoforms and pharmacological implications

Gene Function/Role Features References
CETP Lipid transport protein Splicing affected by diet, dominant-negative Yang et al., 1996; Dessi et al., 1997; Lira et al., 2008
UGT1A Drug metabolism Alternative first exon usage and exon 5 splicing Levesque et al., 2007; Gong et al., 2001
CACNA1C Target in hypertension, arrhythmia treatment Splice variants have different expression patterns and dihydropyridines sensitivity Welling et al., 1997,Tang et al., 2004; ; Wang et al., 2006
DRD2 Antipsychotic drug target Splice forms have different drug sensitivity Malmberg et al., 1993; Usiello et al., 2000; Xu et al., 2002
OPRM1 Analgesics and narcotics receptor Alternate exon 1 affects opioid analgesic effects Schuller et al., 1999; Pan et al., 2005a,b, 2009
COX-1 NSAID target Three splice isoforms, relevance in humans Chandrasekharan et al., 2002; Kis et al., 2005; Qin et al., 2005
MYD88 Inflammation Splice form lacking exon 2 (MyD88S) decreases inflammation Janssens et al., 2002; Burns et al., 2003; Vickers et al., 2006
TNFR Inflammation Exon exclusion produces soluble TNF receptor Graziewicz et al., 2008
NAT1 Drug detoxification Isoforms with different translation efficiencies Boukouvala and Sim, 2005; Butcher et al., 2005; Wang et al., 2011
CYP2D6 Drug metabolism *4 allele alters splicing, no enzyme activity Marez et al., 1997; Kagimoto et al., 1990
SCN1A Drug target in epilepsy treatment Splice isoforms have different sensitivity to phenytoin and lamotrigine Thompson et al., 2011
CAR Nuclear receptor, xenobiotic sensing/processing Alternate splicing alters ligands recognized by receptor DeKeyser et al., 2011
VEGF Growth factor Splice isoforms can have opposite effect Harper and Bates, 2008
BCL2L Apoptosis regulator Splice isoforms are anti- or pro-apoptotic Bauman et al., 2010
Disease-causing genes
    MSTR1 Oncogene SSO can increase transcript length Ghigna et al., 2010
    SMN Spinal muscular atrophy Exon 7 skipped. Multiple approaches for inclusion Wirth et al., 2006; Vitte et al., 2007; Singh et al., 2009; Hua et al., 2010
    DMD Duchenne muscular dystrophy Exon 51 mutation and frameshift van Deutekom et al., 2007, Goemans et al., 2011; Cirak et al., 2011
    IKBKAP Familial dysautonomia Phosphatidylserine and kinetin correct splicing defect Keren et al., 2010; Axelrod et al., 2011; Shetty et al., 2011
    NF-1 Neurofibromatosis Kinetin corrects splicing defect Pros et al., 2010
HHS Vulnerability Disclosure