SERPINA2

Description

The SERPINA2 (serpin family A member 2 (gene/pseudogene)) is a protein-coding gene located on chromosome 14.

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 is a protein that in humans is encoded by the SERPINA2 gene. Serine peptidase inhibitor, clade A member 2 belongs to the member of serine family of proteins which have a functional activity of inhibiting serine proteases.

== Discovery == SERPINA2 was known as pseudogenes as it had a very similar structure and function to SERPINA1. During the cloning characterisation of alpha 1- antitrypsin like gene, it was discovered that SERPINA2 did not have any promoter but did contain substantial homology to SERPINA1 gene sequence.

== Gene location == SERPINA2 is located at 14q32.13.

== Gene expression and localisation == Extracellular predictions of SERPINs and common domain clades show that ER localisation of SERPINA2 are most likely be more, these common ER motifs indicates their localisation are most likely to be in the ER.

== Structure == Population studies indicate that this gene is polymorphic. Deletions, frameshift mutations, and a critical start codon mutation (ATG to ATA) have been found in some populations, as well as an allele that can encode a functional protein. This gene may be an evolving pseudogene. The reference genome contains the start codon mutation and has a coding region deletion. A three-dimensional model of SERPINA2 was created using the non-deleted form of crystal structure, which is homologous with the SERPINA1 protein.

Putative serine protease inhibitor.

SERPINA2 is also known as ARGS, ATR, PIL, SERPINA2P, psiATR.

Associated Diseases

WES Whole Exome Sequencing