SERPINA2, Official Symbol SERPINA2provided by HGNC Official Full Name serpin family A member 2 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:8985 See related Ensembl:ENSG00000258597 MIM:107410; AllianceGenome:HGNC:8985 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATR; PIL; ARGS; psiATR; SERPINA2P Summary This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Note: Population studies indicate that this gene is polymorphic. Deletions, frameshift mutations and a critical start codon mutation (ATG->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 (PMID: 17135331). The reference genome contains the start codon mutation and has a coding region deletion. The NCBI RefSeq Project therefore treats this as a pseudogene. [13 Feb 2013] Expression Low expression observed in reference dataset See more