FAM3B

Chr 21

FAM3 metabolism regulating signaling molecule B

Also known as: 2-21, C21orf11, C21orf76, ORF9, PANDER, PRED44

Predicted to enable cytokine activity. Involved in insulin secretion. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
11
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.54
LOEUF
DN
Mechanism· predicted
Clinical SummaryFAM3B
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — 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
1.54LOEUF
pLI 0.000
Z-score 0.14
OE 0.96 (0.611.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.46Z-score
OE missense 0.89 (0.761.03)
115 obs / 129.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.96 (0.611.54)
00.351.4
Missense OE0.89 (0.761.03)
00.61.4
Synonymous OE1.09
01.21.6
LoF obs/exp: 12 / 12.5Missense obs/exp: 115 / 129.8Syn Z: -0.52
DN
0.6258th %ile
GOF
0.3491th %ile
LOF
0.4331th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FAM3B · 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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Clinical Literature
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