SERPINA2
| SERPINA2 | |||
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Gene ontology | |||
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| Sources:Amigo / QuickGO | |||
Ensembl |
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| UniProt |
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| RefSeq (mRNA) |
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| RefSeq (protein) |
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| Location (UCSC) | Chr 14: 94.36 – 94.37 Mb | n/a | |||||||
| PubMed search | [2] | n/a | |||||||
| View/Edit Human | |||
Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 is a
Discovery
SERPINA2 was known as
Gene location
SERPINA2 is located at 14q32.13.[5]
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.[6]
Structure
Population studies indicate that this gene is
Function
SERPINA2 was previously identified as pseudogene; however, recently there have been new evidence which specifies that SERPINA2 produces an active transcript that is responsible for encoding protein located in the endoplasmic reticulum. A detailed study of the SERPINA2 gene across multiple ethnic groups have relieved that with the addition of SERPINA2 gene therein a haplotype characterisation by partial deletion which has patterns suggesting positive selection of loss of function of SERPINA2 protein.[5]
SERPINA2 studies have shown different results regarding the extent of sequence degeneration it can undergo.
Mutations
A critical mutation present in the start codon and an 2kb deletion over exon IV and part of exon V. This deletion in the start codon occurs at a frequency of 30%.[4] Studies with SERPINA2 in vitro and in vivo have shown that it expresses stable proteins with n-linked glycosylation with a molecular weight of 52kDa and compatible with regular SERPINs [8]
Disease associated
SERPINA2 is a member of SERPIN family, which are known as protein coding genes. A disease associated with this gene is emphysema, due to aat protein deficiency. SERPINA2 has similar function to SERPINA1 and is related to the function of serine type peptidase inhibitor activity.[10]
References
- ^ a b c ENSG00000258597 GRCh38: Ensembl release 89: ENSG00000274821, ENSG00000258597 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2". Retrieved 2017-09-21.
- ^ PMID 2901833.
- ^ PMID 24172014.
- PMID 23826168.
- ^ PMID 17135331.
- ^ PMID 23826168.
- PMID 2842251.
- ^ "SERPINA2". GeneCards.
Further reading
- Merkel, PA; Xie, G; Monach, PA; Ji, X; Ciavatta, DJ (May 2017). "Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis". Arthritis & Rheumatology. 69 (5): 1054–1066. PMID 28029757.
- Namciu SJ, Friedman RD, Marsden MD, Sarausad LM, Jasoni CL, Fournier RE (March 2004). "Sequence organization and matrix attachment regions of the human serine protease inhibitor gene cluster at 14q32.1". Mammalian Genome. 15 (3): 162–78. S2CID 8594824.
- Rollini P, Fournier RE (December 1997). "Molecular linkage of the human alpha 1-antitrypsin and corticosteroid-binding globulin genes on chromosome 14q32.1". Mammalian Genome. 8 (12): 913–6. S2CID 25123395.
- Gettins PG, Olson ST (August 2016). "Inhibitory serpins. New insights into their folding, polymerization, regulation and clearance". Biochemical Journal. 473 (15): 2273–2293. PMID 27470592.