TNPO2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TNPO2 wild-type allele is located in the vicinity of 19p13.13 and is approximately 25 kb in length. This allele, which encodes transportin-2 protein, plays a role in the import of proteins into the nucleus. Mutations in the gene are associated with intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies.

**Synonyms:** - FLJ12155 - IDDHISD - IPO3 - Importin 3 Gene - KPNB2B - Karyopherin Beta 2b Gene - Karyopherin Beta 2b, Transportin Gene - TRN2 - Transportin 2 (Importin 3, Karyopherin Beta 2b) Gene - Transportin 2 wt Allele