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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FAM53B
family with sequence similarity 53 member B
Chromosome 10 · 10q26.13
NCBI Gene: 9679Ensembl: ENSG00000189319.15HGNC: HGNC:28968UniProt: Q14153
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of canonical Wnt signaling pathwaypositive regulation of canonical Wnt signaling pathwaynucleusgoutmathematical abilityandrogenetic alopeciasmoking initiation
✦AI Summary

FAM53B (family with sequence similarity 53 member B) is a nuclear protein that functions as a positive regulator of canonical Wnt signaling pathway. Its primary mechanism involves regulating β-catenin nuclear localization; FAM53B contains both a nuclear localization signal and a β-catenin interaction domain that are essential for facilitating β-catenin translocation into the nucleus, where it activates Wnt-responsive gene transcription 1. The protein colocalizes with β-catenin-dependent gene expression in mouse intestinal crypts, and mammalian FAM53B mediates β-catenin transcriptional activity in a dose-dependent manner 1. Disease relevance: FAM53B variants are associated with cocaine dependence, with genome-wide significant association identified at rs2629540 in both African- and European-American populations 2. In the brain, FAM53B represents a trans-eQTL candidate linking to cocaine intravenous self-administration behaviors in mice 3. Paternal preconception smoking, particularly during puberty, associates with FAM53B promoter hypermethylation in offspring, correlating with increased weight and BMI 4. Additionally, circular RNA derived from FAM53B (circ_FAM53B) shows altered expression in papillary thyroid carcinoma and ovarian cancer, functioning as a competing endogenous RNA to regulate oncogenic pathways 56. FAM53B methylation also shows smoking-dependent regulation in the human nucleus accumbens 78.

Sources cited
1
FAM53B (Simplet) regulates β-catenin nuclear localization through its nuclear localization signal and β-catenin interaction domain, which are essential for canonical Wnt signaling
PMID: 25183871
2
FAM53B locus shows genome-wide significant association with cocaine dependence (rs2629540) in both African-American and European-American populations
PMID: 23958962
3
Fam53b functions as a trans-eQTL candidate in the midbrain linking to cocaine intravenous self-administration behaviors in mice and is co-expressed with Cyfip2
PMID: 26581503
4
Paternal pubertal onset smoking associates with FAM53B promoter hypermethylation in offspring, correlating with offspring weight and BMI outcomes
PMID: 37649101
5
Circular RNA circ_FAM53B is downregulated in papillary thyroid carcinoma and functions as a competing endogenous RNA through the miR-183-5p-CCDC6 axis
PMID: 35598218
6
Circ_FAM53B is upregulated in ovarian cancer and acts as a competing endogenous RNA sponging miR-646 and miR-647 to regulate VAMP2 and MDM2
PMID: 31638250
7
FAM53B shows smoking-dependent methylation quantitative trait loci effects in human nucleus accumbens
PMID: 38830989
Disease Associationsⓘ20
goutOpen Targets
0.50Moderate
mathematical abilityOpen Targets
0.47Moderate
androgenetic alopeciaOpen Targets
0.43Moderate
smoking initiationOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.33Weak
inflammatory bowel diseaseOpen Targets
0.33Weak
lung adenocarcinomaOpen Targets
0.30Weak
alopeciaOpen Targets
0.30Weak
laryngeal carcinomaOpen Targets
0.28Weak
polypOpen Targets
0.23Weak
ParaproteinemiaOpen Targets
0.22Weak
glaucomaOpen Targets
0.17Weak
osteoarthritis, kneeOpen Targets
0.15Weak
open-angle glaucomaOpen Targets
0.14Weak
prostate carcinomaOpen Targets
0.13Weak
total knee arthroplastyOpen Targets
0.13Weak
osteoarthritis, hipOpen Targets
0.08Suggestive
total joint arthroplastyOpen Targets
0.07Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AMER1Shared pathway33%GSKIPShared pathway33%CCNYL1BShared pathway33%SPRNShared pathway33%AMER3Shared pathway33%FAM53AShared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
77%
Heart
71%
Brain
52%
Lung
52%
Liver
18%
Gene Interaction Network
Click a node to explore
FAM53BAMER1GSKIPCCNYL1BSPRNAMER3FAM53A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14153
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.57Moderately Constrained
pLIⓘ
0.84Intermediate
Observed/Expected LoF0.35 [0.22–0.57]
RankingsWhere FAM53B stands among ~20K protein-coding genes
  • #13,183of 20,598
    Most Researched24
  • #3,733of 17,882
    Most Constrained (LOEUF)0.57 · top quartile
Genes detectedFAM53B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Fathers' preconception smoking and offspring DNA methylation.
PMID: 37649101
Clin Epigenetics · 2023
1.00
2
Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.
PMID: 23958962
Mol Psychiatry · 2014
0.90
3
The circ_FAM53B-miR-183-5p-CCDC6 axis modulates the malignant behaviors of papillary thyroid carcinoma cells.
PMID: 35598218
Mol Cell Biochem · 2022
0.80
4
Upregulation of circular RNA circ‑FAM53B predicts adverse prognosis and accelerates the progression of ovarian cancer via the miR‑646/VAMP2 and miR‑647/MDM2 signaling pathways.
PMID: 31638250
Oncol Rep · 2019
0.70
5
Smoking-informed methylation and expression QTLs in human brain and colocalization with smoking-associated genetic loci.
PMID: 38830989
Neuropsychopharmacology · 2024
0.60