Table 2 Summary of the genes and loci identified in the current XWAS

EIF2S3

(Xp22.11; ENSG00000130741)

Eukaryotic translation initiation factor 2 subunit gamma (MIM:300161)

This gene encodes the core subunit of eukaryotic translation initiation factor 2 (eIF2). This gamma subunit is the largest component of a heterotrimeric GTP-binding protein which is essential for protein synthesis. Hemizygous mutations in EIF2S3 cause an X-linked syndrome called ‘mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, and obesity’ (MEHMO). EIF2S3 has also been reported to escape XCI.

AMOT

(Xq23; ENSG00000126016)

Angiomotin (MIM:300410)

This gene belongs to the motin family of angiostatin-binding proteins containing conserved coiled-coil domains and C-terminal PDZ binding motifs. AMOT is predominantly expressed in endothelial cells of capillaries and in larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels.

PLS3

(Xq23; ENSG00000102024)

Plastin 3 (MIM:300131)

Plastins comprise a family of actin-binding proteins that are conserved throughout eukaryote evolution. They are expressed in most tissues of higher eukaryotes. Two ubiquitous plastin isoforms (L and T) have been identified in humans.

UBE2DNL

(Xq21.1; ENSG00000229547)

Ubiquitin conjugating enzyme E2 D N-terminal like (pseudogene)

UBE2DNL is labeled ‘pseudogene’ in various gene databases, but it is reported to be expressed in testis.