Home > Gene Browser > BTN2A1

BTN2A1

Synonyms
BK14H9.1, BT2.1, BTF1, BTN2.1, DJ3E1.1
External resources
Summary
This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,849
Likely benign
1,626
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BTN2A1 gene.

Phenotype class
Patients in 3billion (%)

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