FAM83A

Chr 8

scaffolding CK1 anchoring protein A

Also known as: BJ-TSA-9, FAM83A

NCBI Gene: 84985ENSG00000147689UniProt: Q86UY5

Enables identical protein binding activity; phosphatidylinositol 3-kinase regulatory subunit binding activity; and protein kinase binding activity. Involved in cell population proliferation and epidermal growth factor receptor signaling pathway. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]

Research Assistant →
0
Active trials
26
Pubs (1 yr)
28
P/LP submissions
0%
P/LP missense
1.41
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— FAM83A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
28 unique Pathogenic / Likely Pathogenic· 67 VUS of 109 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.41LOEUF
pLI 0.000
Z-score 0.49
OE 0.85 (0.54–1.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.48Z-score
OE missense 0.92 (0.83–1.02)
251 obs / 273.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.85 (0.54–1.41)
0≤0.351.4
Missense OE0.92 (0.83–1.02)
0≤0.61.4
Synonymous OE0.90
0≤1.21.6
LoF obs/exp: 11 / 12.9Missense obs/exp: 251 / 273.5Syn Z: 0.87
DN
0.6743th %ile
GOF
0.6442th %ile
LOF
0.4037th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction 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

109 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic28
VUS67
Likely Benign4
28
Pathogenic
67
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
28
0
28
Likely Pathogenic
0
0
0
0
0
VUS
0
66
1
0
67
Likely Benign
0
4
0
0
4
Benign
0
0
0
0
0
Total07029099

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM83A · 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

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
M2 macrophage-derived extracellular vesicles induce EMT-like transcriptional reprogramming in colorectal cancer cells via upregulation of FAM83A.
Isik M et al.·Sci Rep
2026
ARHGAP11A affects lung adenocarcinoma (LUAD) and pancreatic adenocarcinoma (PAAD) progression by regulating FAM83A.
Sun K et al.·Transl Cancer Res
2026Open Access
FAM83A promotes the progression of lung squamous cell carcinoma by inducing the epithelial-mesenchymal transition and inhibiting apoptosis via ERK pathway.
Fei X et al.·Lung Cancer
2026
FAM83A acts as an amplifier for lipogenic signaling to facilitate the pathogenesis of metabolic dysfunction-associated steatohepatitis.
Zhou Y et al.·Metabolism
2026
FAM83A is a prognostic biomarker for lung squamous cell carcinoma and correlated with immunoregulation.
Peng C et al.·Sci Rep
2025Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients