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GeneE
2 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.
FAM98C
family with sequence similarity 98 member C
Chromosome 19 Β· 19q13.2
NCBI Gene: 147965Ensembl: ENSG00000130244.14HGNC: HGNC:27119UniProt: Q17RN3
10PubMed Papers
17Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingtRNA-splicing ligase complexshort rib-polydactyly syndrome, Majewski typeasphyxiating thoracic dystrophy 3autism spectrum disordercolorectal cancer
✦AI Summary

Based on limited published evidence, FAM98C is a protein with sequence similarity to family members FAM98A and FAM98B. It localizes to the tRNA-splicing ligase complex and exhibits protein binding capability. FAM98C was identified as a novel candidate gene in ciliopathy patients, with mutations associated with ciliary disorders 1. Recent functional studies demonstrate that FAM98C knockdown attenuates osteoclastogenesis in osteoclast precursors, suggesting a role in bone cell differentiation 2. However, its precise molecular mechanisms and physiological functions remain largely unknown.

Sources cited
1
FAM98C identified as novel candidate gene in ciliopathy patients with established links to ciliogenesis
PMID: 27894351
2
FAM98C knockdown attenuates osteoclastogenesis in osteoclast precursors
PMID: 39857276
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜17
asphyxiating thoracic dystrophy 3Open Targets
0.26Weak
autism spectrum disorderOpen Targets
0.26Weak
short rib-polydactyly syndrome, Majewski typeOpen Targets
0.26Weak
colorectal cancerOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
squamous cell lung carcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)Likely pathogenic
Asphyxiating thoracic dystrophy 3|Autism spectrum disorder
β˜†β˜†β˜†β˜†2023β†’ Residue 282
View on ClinVar β†—
Related Genes
DDX1Protein interaction80%RTRAFProtein interaction75%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
90%
Liver
77%
Lung
55%
Heart
48%
Brain
37%
Gene Interaction Network
Click a node to explore
FAM98CDDX1RTRAF
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q17RN3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.38LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.05 [0.81–1.38]
RankingsWhere FAM98C stands among ~20K protein-coding genes
  • #17,054of 20,598
    Most Researched10
  • #5,476of 5,498
    Most Pathogenic Variants1
  • #14,342of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedFAM98C
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Characterizing the morbid genome of ciliopathies.
PMID: 27894351
Genome Biol Β· 2016
1.00
2
FAM98 Family Proteins Play Distinct Roles in Osteoclastogenesis and Bone Resorption.
PMID: 39857276
Biology (Basel) Β· 2025
0.50