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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FAM76B
family with sequence similarity 76 member B
Chromosome 11 · 11q21
NCBI Gene: 143684Ensembl: ENSG00000077458.13HGNC: HGNC:28492UniProt: F5GX09
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of macrophage activationnegative regulation of protein export from nucleusmRNA stabilizationintelligencehypothyroidismthyroid diseaseCOVID-19
✦AI Summary

FAM76B is a 39 kDa nuclear speckle-localized protein that negatively regulates inflammatory pathways through two distinct mechanisms 1. First, FAM76B inhibits NF-κB-mediated inflammation by preventing the cytoplasmic translocation of hnRNPA2B1, a nuclear-to-cytoplasm transport regulator 2. Second, FAM76B stabilizes PIK3CD mRNA, elevating PIK3CD protein levels and downstream phosphorylated AKT, which suppresses NF-κB signaling and reduces M1 macrophage polarization 3. FAM76B exhibits phase separation properties dependent on its histidine-rich region, with deletion of this region paradoxically enhancing macrophage-mediated anti-tumor immunity 4. Functionally, FAM76B knockout increases M1 macrophage markers and inflammatory responses in vitro 3. In vivo, FAM76B protects against inflammatory bowel disease by inhibiting M1 macrophage polarization and suppresses neuroinflammation in traumatic brain injury models 23. FAM76B is conserved across species and expressed in most human organs at varying levels 1. Genetic variants near FAM76B associate with sun-seeking behavior, linking it to behavioral traits 5. FAM76B has been identified in rare disease-associated fusions, including in Ewing sarcoma and other malignancies 67.

Sources cited
1
FAM76B stabilizes PIK3CD mRNA to inhibit PI3K/Akt/NF-κB pathway-mediated M1 macrophage polarization and protects against inflammatory bowel disease
PMID: 38421448
2
FAM76B prevents hnRNPA2B1 translocation from nucleus to cytoplasm, inhibiting NF-κB-mediated inflammation in traumatic brain injury and neurodegenerative diseases
PMID: 37643469
3
FAM76B is a 39 kDa nuclear speckle-localized protein highly conserved across species and expressed in most human organs
PMID: 27018871
4
FAM76B exhibits histidine-rich region-dependent phase separation; deletion enhances macrophage-mediated anti-tumor immunity in osteosarcoma
PMID: 40753849
5
FAM76B genetic variants associate with sun-seeking behavior, linking the gene to behavioral and neuropsychological traits
PMID: 32920024
6
FAM76B fusion with EWSR1 identified in young Ewing sarcoma patients with worse prognosis
PMID: 39285408
7
Novel MAML2-FAM76B fusions identified in cancer samples, likely representing passenger alterations from genomic instability
PMID: 41097675
Disease Associationsⓘ20
intelligenceOpen Targets
0.25Weak
hypothyroidismOpen Targets
0.24Weak
thyroid diseaseOpen Targets
0.22Weak
COVID-19Open Targets
0.21Weak
severe acute respiratory syndromeOpen Targets
0.21Weak
myxedemaOpen Targets
0.20Weak
hyperthyroidismOpen Targets
0.19Weak
VitiligoOpen Targets
0.19Weak
ThyrotoxicosisOpen Targets
0.19Weak
basal cell carcinomaOpen Targets
0.18Weak
skin cancerOpen Targets
0.18Weak
skin diseaseOpen Targets
0.18Weak
autoimmune thyroid diseaseOpen Targets
0.17Weak
skin neoplasmOpen Targets
0.17Weak
autoimmune diseaseOpen Targets
0.16Weak
rheumatoid arthritisOpen Targets
0.16Weak
mathematical abilityOpen Targets
0.16Weak
substance-related disorderOpen Targets
0.16Weak
cataractOpen Targets
0.16Weak
goiterOpen Targets
0.16Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LRFN5Shared pathway33%TENT5DShared pathway25%TAF15Shared pathway25%IL22RA2Shared pathway20%FNDC4Shared pathway20%C15orf39Shared pathway20%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
20%
Ovary
17%
Lung
13%
Heart
8%
Brain
8%
Gene Interaction Network
Click a node to explore
FAM76BLRFN5TENT5DTAF15IL22RA2FNDC4C15orf39
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5HYJ3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.96Intolerant
Observed/Expected LoF0.33 [0.22–0.52]
RankingsWhere FAM76B stands among ~20K protein-coding genes
  • #9,329of 20,598
    Most Researched46
  • #3,170of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedFAM76B
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
FAM76B regulates PI3K/Akt/NF-κB-mediated M1 macrophage polarization by influencing the stability of PIK3CD mRNA.
PMID: 38421448
Cell Mol Life Sci · 2024
1.00
2
Production and Characterization of Monoclonal Antibodies against Human Nuclear Protein FAM76B.
PMID: 27018871
PLoS One · 2016
0.88
3
Clinicopathological characteristics and genetic features of young and senior Ewing sarcoma patients.
PMID: 39285408
Diagn Pathol · 2024
0.75
4
FAM76B regulates NF-κB-mediated inflammatory pathway by influencing the translocation of hnRNPA2B1.
PMID: 37643469
Elife · 2023
0.63
5
Looking for Sunshine: Genetic Predisposition to Sun Seeking in 265,000 Individuals of European Ancestry.
PMID: 32920024
J Invest Dermatol · 2021
0.50