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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
130
Likely pathogenic
9
VUS
4,202
Likely benign
18
Benign
0

Patient phenotypes

Proportions of phenotypes among 139 patients carring pathogenic or likely pathogenic variants on BTN2A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36%
Abnormality of the musculoskeletal system
23%
Abnormality of the eye
18.7%
Abnormality of head or neck
17.3%
Abnormality of the cardiovascular system
15.8%
Abnormality of the ear
12.9%
Abnormality of the genitourinary system
10.1%
Growth abnormality
9.4%
Abnormality of blood and blood-forming tissues
8.6%
Abnormality of limbs
6.5%
Abnormality of the immune system
6.5%
Abnormality of the integument
6.5%
Abnormality of the digestive system
4.3%
Abnormality of prenatal development or birth
2.2%
Abnormality of the endocrine system
2.2%
Abnormal cellular phenotype
0.7%
Abnormality of the breast
0.7%
Abnormality of the respiratory system
0.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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