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 name Gene Name - the full gene name approved by the HGNC.
Serpin family A member 2 (gene/pseudogene)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPINA2
Synonyms (NCBI Gene) Gene synonyms aliases
ARGS, ATR, PIL, SERPINA2P, psiATR
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.13
Summary Summary 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-functiona
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity TAS 2842251
GO:0005515 Function Protein binding IPI 23826168
GO:0005615 Component Extracellular space IBA
Other IDs Other 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
107410 8985 ENSG00000258597
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID P20848
Protein name Alpha-1-antitrypsin-related protein (AAT-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
Tissue specificity TISSUE SPECIFICITY: Expressed in the liver, leukocytes and testis. Also detected in brain, colon, uterus, esophagus, spleen, trachea, kidney and lung. {ECO:0000269|PubMed:17135331, ECO:0000269|PubMed:23826168}.
Sequence
Sequence length 420
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
alpha 1 Antitrypsin Deficiency Associate 7912884
Breast Neoplasms Associate 37842046
Carcinoma Hepatocellular Associate 32681721
Carcinoma Squamous Cell Associate 40515636
Glioblastoma Associate 37208656
Neoplasm Metastasis Associate 37842046
Neoplasms Associate 35488119, 37842046
Osteosarcoma Associate 34604383
Prostatic Neoplasms Associate 19670224
Uveal melanoma Associate 33682883