BTN3A2

Chr 6

butyrophilin subfamily 3 member A2

Also known as: BT3.2, BTF4, BTN3.2, CD277

This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

ResearchGenerating clinical summary…
0
Active trials
39
Pubs (1 yr)
P/LP submissions
P/LP missense
1.42
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.42LOEUF
pLI 0.000
Z-score 0.26
OE 0.93 (0.631.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.57Z-score
OE missense 0.88 (0.771.00)
158 obs / 179.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.93 (0.631.42)
00.351.4
Missense OE?0.88 (0.771.00)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 16 / 17.2Missense obs/exp: 158 / 179.7Syn Z: 0.64

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

BTN3A2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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