Gene: SPTBN5
Alternate names for this Gene:
BSPECV|HUBSPECV|HUSPECV
Gene Summary:
Gene is located in Chromosome:
15
Location in Chromosome :
15q15.1
Description of this Gene:
spectrin beta, non-erythrocytic 5
Type of Gene:
protein-coding
rs8028958
in
SPTBN5
gene and
Candidemia
PMID 31241743
2019 We observed strong association between
candidemia
and a variant,
rs8028958
, that significantly affects the expression levels of PLA2G4B in blood.
rs747780
in
SPTBN5
gene and
Cardiovascular Diseases
PMID 30595370
2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs4923918
in
SPTBN5
gene and
Myocardial Infarction
PMID 21211798
2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.