rs55687265
This is a protein-altering variant in the ATP8B4 gene.
▶Research that mentions this SNP (1)
▶Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole‐Exome SequencingAssociationN=3,756Li Gao et al.(2016)· Arthritis & Rheumatology
Whole-exome sequencing identified ATP8B4 as a novel susceptibility gene for systemic sclerosis (SSc), with the missense variant rs55687265 (c.1308C>G, F436L) showing the strongest association (discovery: P=9.35×10⁻¹⁰, OR=6.11; replication: P=0.012, OR=1.86; meta-analysis: P=1.92×10⁻⁷, OR=2.5). ATP8B4 overexpression was confirmed in SSc patients' peripheral blood mononuclear cells (P=0.0005). Additional genes ASB10, CNGB3, HLA-DRB5, and HSPB2 also showed significant associations (P<10⁻⁵).
About ATP8B4
This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
View all ATP8B4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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