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GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FAM13B
family with sequence similarity 13 member B
Chromosome 5 · 5q31.2
NCBI Gene: 51306Ensembl: ENSG00000031003.11HGNC: HGNC:1335UniProt: A0A2X0SG06
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
GTPase activator activityregulation of small GTPase mediated signal transductioncytosolsignal transductionatrial fibrillationcardiac arrhythmianeurodegenerative diseasecardioembolic stroke
✦AI Summary

FAM13B (family with sequence similarity 13 member B) is a gene located on chromosome 5-q22 with GTPase activator activity involved in regulating small GTPase-mediated signal transduction 1. A circular RNA derived from FAM13B (circFAM13B) localizes to the endoplasmic reticulum and functions as a tumor suppressor in nasopharyngeal carcinoma by binding to RBM3 protein and promoting degradation of uXBP1 mRNA, thereby inhibiting ER stress-related pathways and lymphangiogenesis 2. In lung adenocarcinoma, FAM13B expression is downregulated and positively correlates with gefitinib sensitivity and immune response, suggesting a role in drug response and immune regulation 3. Additionally, FAM13B expression is altered in peripheral vascular smooth muscle cells under calcifying conditions associated with critical limb ischemia 4. Genome-wide association studies have linked FAM13B to atrial fibrillation susceptibility through cis-expression quantitative trait loci regulation 1. These findings indicate FAM13B participates in ER stress regulation, vascular biology, and immune responses, with potential therapeutic applications in cancer metastasis, drug sensitivity prediction, and cardiovascular disease.

Sources cited
1
CircFAM13B is an ER-localized tumor suppressor that inhibits NPC lymphatic metastasis by binding RBM3 and promoting XBP1 degradation
PMID: 40745648
2
FAM13B is a hub gene related to gefitinib sensitivity in lung adenocarcinoma; low FAM13B expression correlates with immune response
PMID: 38584557
3
FAM13B at chromosome 5q31 displays significant cis-expression quantitative trait loci associated with atrial fibrillation susceptibility
PMID: 29545482
4
FAM13B expression is significantly altered in peripheral vascular smooth muscle cells under calcifying conditions associated with critical limb ischemia
PMID: 41123810
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.48Moderate
cardiac arrhythmiaOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.24Weak
cardioembolic strokeOpen Targets
0.23Weak
osteoarthritis, kneeOpen Targets
0.15Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
Romano-Ward syndromeOpen Targets
0.10Suggestive
acute graft vs. host diseaseOpen Targets
0.09Suggestive
Total congenital cataractOpen Targets
0.09Suggestive
Partial congenital cataractOpen Targets
0.09Suggestive
Cataract-microcornea syndromeOpen Targets
0.09Suggestive
early-onset nuclear cataractOpen Targets
0.08Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.08Suggestive
isolated ectopia lentisOpen Targets
0.08Suggestive
early-onset zonular cataractOpen Targets
0.08Suggestive
familial atrial fibrillationOpen Targets
0.08Suggestive
Brugada syndromeOpen Targets
0.08Suggestive
Familial short QT syndromeOpen Targets
0.08Suggestive
Posterior polar cataractOpen Targets
0.07Suggestive
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FAM13AShared pathway100%ARHGEF9Shared pathway100%ARHGAP19Shared pathway100%GARNL3Shared pathway100%ARHGAP23Shared pathway100%PLEKHG1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
68%
Ovary
49%
Brain
47%
Lung
29%
Liver
20%
Gene Interaction Network
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FAM13BFAM13AARHGEF9ARHGAP19GARNL3ARHGAP23PLEKHG1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NYF5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.46 [0.36–0.59]
RankingsWhere FAM13B stands among ~20K protein-coding genes
  • #15,259of 20,598
    Most Researched16
  • #3,958of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedFAM13B
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Endoplasmic reticulum-localized circular RNA FAM13B restrains nasopharyngeal carcinoma lymphatic metastasis through downregulating XBP1.
PMID: 40745648
J Exp Clin Cancer Res · 2025
1.00
2
Identification and Functional Characterization of Essential Genes Related to Gefitinib Sensitivity in Lung Adenocarcinoma.
PMID: 38584557
Curr Med Chem · 2025
0.75
3
Genetic Control of Left Atrial Gene Expression Yields Insights into the Genetic Susceptibility for Atrial Fibrillation.
PMID: 29545482
Circ Genom Precis Med · 2018
0.50
4
Differential gene expression in peripheral vascular smooth muscle cells of patients with peripheral artery disease.
PMID: 41123810
Clin Exp Nephrol · 2026
0.25