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SERPINA2 (serpin family A member 2 (gene/pseudogene))
Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
390502
Gene nameGene Name - the full gene name approved by the HGNC.
Serpin family A member 2 (gene/pseudogene)
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SERPINA2
SynonymsGene synonyms aliases
ARGS, ATR, PIL, SERPINA2P, psiATR
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.13
SummarySummary of gene provided in NCBI Entrez Gene.
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]
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA 21873635
GO:0005515 Function Protein binding IPI 23826168
GO:0005615 Component Extracellular space IBA 21873635
GO:0005783 Component Endoplasmic reticulum IDA 23826168
GO:0010951 Process Negative regulation of endopeptidase activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID P20848
Protein name Putative alpha-1-antitrypsin-related protein (Protease inhibitor 1-like) (Serpin A2)
Protein function Putative serine protease inhibitor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin
55 → 417
Serpin (serine protease inhibitor)
 Domain
Sequence
Sequence length 420
Interactions View interactions
Associated diseases
Gene Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Unknown
Disease name Disease term dbSNP ID References
Development disorder Child Development Disorders, Pervasive 30804558

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