SERPINA3 (serpin family A member 3)

2003-08-01  

Identity

HGNC
LOCATION
14q32.13
LOCUSID
ALIAS
AACT,ACT,GIG24,GIG25
FUSION GENES

Other Information

Locus ID:

NCBI: 12
MIM: 107280
HGNC: 16
Ensembl: ENSG00000196136

Variants:

dbSNP: 12
ClinVar: 12
TCGA: ENSG00000196136
COSMIC: SERPINA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196136ENST00000393078P01011
ENSG00000196136ENST00000393078A0A024R6P0
ENSG00000196136ENST00000393080P01011
ENSG00000196136ENST00000393080A0A024R6P0
ENSG00000196136ENST00000467132P01011
ENSG00000196136ENST00000467132A0A024R6P0
ENSG00000196136ENST00000482740G3V3A0
ENSG00000196136ENST00000555820G3V595
ENSG00000196136ENST00000556968P01011
ENSG00000196136ENST00000621603A0A087WY93

Expression (GTEx)

0
500
1000
1500

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445218Pancreatic NeoplasmsDiseaseClinicalAnnotationassociatedPD21487324
PA452621antineoplastic agentsChemicalClinicalAnnotationassociatedPD21487324

References

Pubmed IDYearTitleCitations
228690382013Increased inflammatory markers identified in the dorsolateral prefrontal cortex of individuals with schizophrenia.152
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
188422942008Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.65
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
164532842006Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women.48
199332162010The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.48
192476922009Analyses of associations with asthma in four asthma population samples from Canada and Australia.39
120238322002Gene regulation of the serine proteinase inhibitors alpha1-antitrypsin and alpha1-antichymotrypsin.26
162788262006Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.24
176903292008IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency.23

Citation

Dessen P

SERPINA3 (serpin family A member 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42263/serpina3