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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FAM53A
family with sequence similarity 53 member A
Chromosome 4 Β· 4p16.3
NCBI Gene: 152877Ensembl: ENSG00000174137.14HGNC: HGNC:31860UniProt: C9JYQ7
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein import into nucleusnucleustype 2 diabetes mellitusosteoarthritisosteoarthritis, kneeosteoarthritis, hip
✦AI Summary

FAM53A is a protein implicated in multiple disease contexts through gene expression regulation. While UniProt annotations suggest a potential role in neural development and protein nuclear import, the primary evidence supporting FAM53A's biological significance comes from disease association studies. In cancer biology, FAM53A expression associates with bladder cancer risk, with higher expression levels correlating with increased disease susceptibility 1. Additionally, FAM53A was identified as a regulatory target gene that modulates doxorubicin sensitivity in breast cancer cells, indicating a potential role in chemotherapeutic response 2. Genetic studies reveal FAM53A localization within critical genomic regions. It maps to chromosome 4.3, a region containing genes associated with Wolf-Hirschhorn syndrome-related fetal growth retardation, though TACC3 and SLBP are the primary candidate genes in this interval 3. FAM53A also shows colocalization with multiple osteoarthritis GWAS signals in osteoclast eQTL analyses, suggesting regulatory roles in bone disease pathogenesis 4. These findings indicate FAM53A functions as a genetically-regulated modulator affecting cancer susceptibility and potentially bone disease progression, though mechanistic details remain incompletely characterized.

Sources cited
1
FAM53A expression levels associate with bladder cancer risk in transcriptome-wide association study
PMID: 39789109
2
FAM53A is a predicted regulatory target gene that modulates doxorubicin sensitivity in breast cancer cells
PMID: 28179588
3
FAM53A is located within the 1.32-1.74 Mb critical region on chromosome 4p16.3 associated with Wolf-Hirschhorn syndrome fetal growth retardation
PMID: 32619252
4
FAM53A shows eQTL signal colocalization with multiple osteoarthritis GWAS traits
PMID: 37579195
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
type 2 diabetes mellitusOpen Targets
0.35Weak
osteoarthritisOpen Targets
0.34Weak
osteoarthritis, kneeOpen Targets
0.30Weak
osteoarthritis, hipOpen Targets
0.30Weak
heart diseaseOpen Targets
0.28Weak
epilepsyOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.28Weak
urinary bladder cancerOpen Targets
0.27Weak
total knee arthroplastyOpen Targets
0.24Weak
Intervertebral disk degenerationOpen Targets
0.15Weak
urinary bladder carcinomaOpen Targets
0.09Suggestive
Back painOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
vertebral column disorderOpen Targets
0.07Suggestive
response to xenobiotic stimulusOpen Targets
0.07Suggestive
spondyloarthropathyOpen Targets
0.05Suggestive
total joint arthroplastyOpen Targets
0.05Suggestive
medical procedureOpen Targets
0.04Suggestive
Abnormality of the integumentOpen Targets
0.04Suggestive
chondrocalcinosisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
GPN1Shared pathway100%TNPO3Shared pathway100%RANBP6Shared pathway100%GPN3Shared pathway100%FAM53CShared pathway100%TMCO6Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
81%
Brain
63%
Bone Marrow
54%
Lung
34%
Heart
26%
Gene Interaction Network
Click a node to explore
FAM53AGPN1TNPO3RANBP6GPN3FAM53CTMCO6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6NSI3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.32 [0.97–1.78]
RankingsWhere FAM53A stands among ~20K protein-coding genes
  • #16,443of 20,598
    Most Researched12
  • #16,465of 17,882
    Most Constrained (LOEUF)1.78
Genes detectedFAM53A
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Leveraging osteoclast genetic regulatory data to identify genes with a role in osteoarthritis.
PMID: 37579195
Genetics Β· 2023
1.00
2
Transcriptome-wide association study identifies genes associated with bladder cancer risk.
PMID: 39789109
Sci Rep Β· 2025
0.75
3
TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer.
PMID: 28179588
Oncotarget Β· 2017
0.50
4
[Identification of a critical region on chromosome 4p16.3 for Wolf-Hirschhorn syndrome-associated fetal growth retardation].
PMID: 32619252
Zhonghua Yi Xue Yi Chuan Xue Za Zhi Β· 2020
0.25