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BTN2A2

Synonyms
BT2.2, BTF2, BTN2.2
External resources
Summary
Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several 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
35
Likely pathogenic
0
VUS
3,132
Likely benign
211
Benign
0

Patient phenotypes

Proportions of phenotypes among 35 patients carring pathogenic or likely pathogenic variants on BTN2A2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the eye
20%
Abnormality of head or neck
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
8.6%
Abnormality of the genitourinary system
8.6%
Abnormality of the integument
8.6%
Abnormality of the musculoskeletal system
8.6%
Abnormality of the endocrine system
5.7%
Abnormality of the immune system
5.7%
Growth abnormality
5.7%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of limbs
2.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the digestive system
2.9%
Neoplasm
2.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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