HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FAM161B
FAM161 centrosomal protein B
Chromosome 14 Β· 14q24.3
NCBI Gene: 145483Ensembl: ENSG00000156050.10HGNC: HGNC:19854UniProt: Q96MY7
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytoplasmic microtubulemicrotubule cytoskeletoncilium organizationneurodegenerative diseasefamilial steroid-resistant nephrotic syndrome with sensorineural deafnessgenetic disorderAlzheimer disease
✦AI Summary

FAM161B is a centrosomal protein involved in cilium organization and microtubule cytoskeleton regulation. As a paralog of FAM161A, FAM161B shares a conserved UPF0564 domain that mediates protein-protein interactions and microtubule binding 1. FAM161B physically interacts with TACC3, a centrosomal protein complex component, and co-localizes at spindle poles and cytokinetic bridges during cell division 2. The FAM161 protein family functions in ciliary structure and function; FAM161A localizes to the connecting cilium and basal body, interacting with ciliopathy-associated proteins including CEP290, OFD1, and SDCCAG8 3. FAM161A promotes microtubule stabilization and acetylation through its conserved domain, essential for ciliary assembly and maintenance 1. Disease relevance includes retinitis pigmentosa (RP28), a retinal ciliopathy caused by FAM161A mutations 3, and potential involvement in colon cancer development, where FAM161B expression is regulated by DNA methylation and reduced in tumorous compared to normal tissues 4. Given FAM161B's structural and functional conservation with FAM161A, it likely contributes to ciliary organization and microtubule dynamics, though its specific retinal and cancer roles require further characterization.

Sources cited
1
FAM161B is a physical interactor of TACC3; TACC3 and FAM161B localize to centrosomal structures involved in cell division
PMID: 20237422
2
FAM161A (paralog of FAM161B) localizes to ciliary basal body and connects cilium; interacts with ciliopathy-associated proteins; ciliary dysfunction causes retinitis pigmentosa
PMID: 22940612
3
FAM161A contains conserved UPF0564 domain mediating interaction with FAM161B and microtubule binding; promotes microtubule stabilization and acetylation
PMID: 22791751
4
FAM161B expression is downregulated in colon tumors and regulated by DNA methylation; implicated in colon cancer development
PMID: 23049694
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.51Moderate
familial steroid-resistant nephrotic syndrome with sensorineural deafnessOpen Targets
0.37Weak
genetic disorderOpen Targets
0.16Weak
Alzheimer diseaseOpen Targets
0.12Weak
Hepatic veno-occlusive disease - immunodeficiencyOpen Targets
0.05Suggestive
hepatic veno-occlusive disease-immunodeficiency syndromeOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
immunodeficiency 75Open Targets
0.04Suggestive
idiopathic hypereosinophilic syndromeOpen Targets
0.04Suggestive
autoinflammation with episodic fever and lymphadenopathyOpen Targets
0.04Suggestive
glycoprotein storage diseaseOpen Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
immunodeficiency 118Open Targets
0.03Suggestive
hereditary neutrophiliaOpen Targets
0.03Suggestive
Hyperlipoproteinemia type 1Open Targets
0.03Suggestive
Mast Cell SarcomaOpen Targets
0.03Suggestive
Mantle cell lymphomaOpen Targets
0.03Suggestive
acute erythroleukemiaOpen Targets
0.03Suggestive
erythroleukemia, familial, susceptibility toOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TSGA10IPShared pathway100%TTC17Shared pathway50%TTC29Shared pathway50%ARMC2Shared pathway50%FAM161AShared pathway50%CATIPShared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
91%
Heart
52%
Bone Marrow
21%
Liver
16%
Lung
16%
Gene Interaction Network
Click a node to explore
FAM161BTSGA10IPTTC17TTC29ARMC2FAM161ACATIP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96MY7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.56–0.92]
RankingsWhere FAM161B stands among ~20K protein-coding genes
  • #15,553of 20,598
    Most Researched15
  • #8,388of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedFAM161B
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
TACC3-TSC2 maintains nuclear envelope structure and controls cell division.
PMID: 20237422
Cell Cycle Β· 2010
1.00
2
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
PMID: 22940612
Hum Mol Genet Β· 2012
0.75
3
Genome-wide screening of genes regulated by DNA methylation in colon cancer development.
PMID: 23049694
PLoS One Β· 2012
0.50
4
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association.
PMID: 22791751
Hum Mol Genet Β· 2012
0.25