BANF2

Chr 20

BANF family member 2

Also known as: BAF-L, BAF2, BAFL, C20orf179

BANF2 encodes a nuclear protein that enables identical protein binding and is predicted to be involved in chromosome organization, with potential roles in regulating BANF1 function in a tissue-specific manner. The gene shows low constraint against loss-of-function variants (pLI 0.01, LOEUF 1.63), and currently no human disease associations have been established for pathogenic variants in this gene. Further research is needed to determine whether BANF2 mutations cause pediatric neurological disorders.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
4
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.63
LOEUF
Mechanism
Clinical SummaryBANF2
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.63LOEUF
pLI 0.014
Z-score 0.62
OE 0.68 (0.311.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.42Z-score
OE missense 0.84 (0.661.08)
44 obs / 52.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.68 (0.311.63)
00.351.4
Missense OE0.84 (0.661.08)
00.61.4
Synonymous OE1.13
01.21.6
LoF obs/exp: 3 / 4.4Missense obs/exp: 44 / 52.6Syn Z: -0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BANF2 · 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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