Butyrophilin, Subfamily 3, Member A2

Alternative Names

  • BTN3A2
  • BT3.2
  • BTF4
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OMIM Number

613594

Gene Map Locus
6p22.2

Description

The BTN3A2 gene encodes the Butyrophilin Subfamily 3 Member A2 protein, a member of the immunoglobulin superfamily. The protein is an integral component of the plasma membrane and contains 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. BTN3A2 is involved in interferon gamma secretion and is believed to play an important role in the T cell mediated adaptive immune response.  

Molecular Genetics

The BTN3A2 gene, located on the short arm of chromosome 6, spans a length of 86 kb of DNA. Its coding sequence is contained in 12 exons and it encodes a 36 kDa protein product made up of 334 amino acids. Alternative splicing results in multiple transcript variants that encode different isoforms of the BTN3A2 protein. The gene is overexpressed in the peripheral blood T cells and natural killer cells.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Anazi et al. (2016) examined 337 Intellectual Disability (ID) patients and found genomic tools to have a higher diagnostic yield than standard clinical evaluations. Exome sequencing helped uncover a homozygous c.646G>T (p.Glu216*) mutation in the BTN3A2 gene of a 4 year old girl and her 6 month old brother. The patients were born to first-degree consanguineous parents. The girl suffered from global developmental delay, seizures, recurrent chest infections, microcephaly, dysmorphic features and moderate diffuse brain atrophy in conjunction with delayed/hypomyelination while her brother was found to exhibit severe hypotonia, neonatal-onset seizures, poor visual tracking and dysmorphic features resembling Zellweger syndrome. The authors noted that the BTN3A2 gene was elevated in the brain of HIV-associated neurocognitive disorders. Also, the identified mutation was suggested to be pathogenic as it was a loss-of-function variant, had a minor allele frequency <0.001 based on 1500 Saudi exomes, fully segregated with the phenotype and there were no other candidate variants.              

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