G2Cdb::Gene report

Gene id
G00002443
Gene symbol
SERPINA3 (HGNC)
Species
Homo sapiens
Description
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
Orthologue
G00001194 (Mus musculus)

Databases (7)

Gene
ENSG00000184009 (Ensembl human gene)
12 (Entrez Gene)
32 (G2Cdb plasticity & disease)
SERPINA3 (GeneCards)
Literature
107280 (OMIM)
Marker Symbol
HGNC:16 (HGNC)
Protein Sequence
P01011 (UniProt)

Synonyms (2)

  • ACT
  • alpha-1-antichymotrypsin

Diseases (6)

Disease Nervous effect Mutations Found Literature Mutations Type Genetic association?
D00000223: Hearing loss (hereditary progressive) Y Y (10662538) No mutation found (N) ?
D00000234: Dilated cardiomyopathy N Y (9563954) Microinsertion (MI) Y
D00000222: Hearing loss (autosomal dominant) Y Y (14684684) Single nucleotide polymorphism (SNP) Y
D00000221: Hearing loss (age-related) Y Y (13680526) Microinsertion (MI) Y
D00000219: Deafness (dominant) Y Y (16773128) Microinsertion (MI) Y
D00000320: Athletic performance N Y (17033684) Polymorphism (P) Y
D00000320: Athletic performance N Y (16612741) Polymorphism (P) N
D00000320: Athletic performance N Y (15977791) Single nucleotide polymorphism (SNP) Y
D00000320: Athletic performance N Y (15886711) Polymorphism (P) Y
D00000320: Athletic performance N Y (15718405) Polymorphism (P) ?

References

Literature (155)

Pubmed - human_disease

Pubmed - other

Gene lists (4)

Gene List Source Species Name Description Gene count
L00000009 G2C Homo sapiens Human PSD Human orthologues of mouse PSD adapted from Collins et al (2006) 1080
L00000015 G2C Homo sapiens Human NRC Human orthologues of mouse NRC adapted from Collins et al (2006) 186
L00000016 G2C Homo sapiens Human PSP Human orthologues of mouse PSP adapted from Collins et al (2006) 1121
L00000034 G2C Homo sapiens Pocklington H3 Human orthologues of cluster 3 (mouse) from Pocklington et al (2006) 30
© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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