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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FAM98B
family with sequence similarity 98 member B
Chromosome 15 · 15q14
NCBI Gene: 283742Ensembl: ENSG00000171262.11HGNC: HGNC:26773UniProt: Q52LJ0
100PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingprotein methyltransferase activityidentical protein bindingovarian dysfunctionsystemic lupus erythematosuskidney transplanttype 2 diabetes mellitus
✦AI Summary

FAM98B is an accessory subunit of the human tRNA-splicing ligase complex (tRNA-LC) that functions in mature tRNA generation 1. As a component of this five-subunit complex alongside RTCB, DDX1, CGI-99, and Ashwin, FAM98B contributes to joining spliced tRNA halves by incorporating splice junction phosphates into mature tRNAs 1. The protein contains a highly glycine-rich intrinsically disordered region (IDR) that serves as its primary functional domain 2. Beyond tRNA splicing, FAM98B participates in a broader RNA metabolism complex with DDX1 and C14orf166 that shuttles between nucleus and cytoplasm in a transcription-dependent manner 3. FAM98B may possess broad substrate specificity and function toward additional RNAs beyond tRNA 4. Clinically, FAM98B depletion through polyglycine aggregation in GGC repeat disorders causes progressive motor coordination deficits and hindbrain pathology in mice, with patient tissues showing aberrant tRNA splicing intermediates 2. FAM98B also regulates PRMT1 expression and correlates with colorectal cancer progression 5. Additionally, FAM98B functions in osteoclast lysosome trafficking and bone resorption 6, indicating roles beyond RNA metabolism.

Sources cited
1
FAM98B is an accessory subunit of the five-subunit human tRNA ligase complex required for complex integrity
PMID: 34854379
2
FAM98B contains a glycine-rich intrinsically disordered region and polyglycine aggregation depletes tRNA-LC, disrupting tRNA processing and causing motor deficits
PMID: 40674500
3
FAM98B associates with DDX1, HSPC117, and hCLE/C14orf166 in a transcription-dependent RNA-transporting complex that shuttles between nucleus and cytoplasm
PMID: 24608264
4
FAM98B functions as part of the human tRNA ligase complex with broad substrate specificity
PMID: 24870230
5
FAM98B regulates PRMT1 expression and correlates with colorectal cancer progression
PMID: 28040436
6
FAM98B disruption impairs osteoclast lysosome trafficking and bone resorption
PMID: 39857276
Disease Associationsⓘ20
ovarian dysfunctionOpen Targets
0.31Weak
systemic lupus erythematosusOpen Targets
0.28Weak
kidney transplantOpen Targets
0.12Weak
type 2 diabetes mellitusOpen Targets
0.04Suggestive
bipolar disorderOpen Targets
0.04Suggestive
ovarian neoplasmOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
preeclampsiaOpen Targets
0.04Suggestive
kidney failureOpen Targets
0.04Suggestive
vein disorderOpen Targets
0.04Suggestive
chronic kidney diseaseOpen Targets
0.04Suggestive
lymphatic system diseaseOpen Targets
0.03Suggestive
breast diseaseOpen Targets
0.03Suggestive
age-related macular degenerationOpen Targets
0.03Suggestive
Abnormal sperm morphologyOpen Targets
0.03Suggestive
Duchenne muscular dystrophyOpen Targets
0.03Suggestive
kidney diseaseOpen Targets
0.03Suggestive
liver diseaseOpen Targets
0.03Suggestive
inflammatory bowel diseaseOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TRPT1Shared pathway100%C2orf49Protein interaction81%RTCBProtein interaction75%ZBTB8OSProtein interaction75%DDX1Protein interaction68%RTRAFProtein interaction67%
Tissue Expression6 tissues
Brain
100%
Heart
60%
Bone Marrow
45%
Ovary
30%
Lung
20%
Liver
16%
Gene Interaction Network
Click a node to explore
FAM98BTRPT1C2orf49RTCBZBTB8OSDDX1RTRAF
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q52LJ0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.68–1.28]
RankingsWhere FAM98B stands among ~20K protein-coding genes
  • #4,780of 20,598
    Most Researched100 · top quartile
  • #13,505of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedFAM98B
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders.
PMID: 40674500
Science · 2025
1.00
2
Molecular architecture of the human tRNA ligase complex.
PMID: 34854379
Elife · 2021
0.89
3
hCLE/C14orf166 associates with DDX1-HSPC117-FAM98B in a novel transcription-dependent shuttling RNA-transporting complex.
PMID: 24608264
PLoS One · 2014
0.78
4
Long non-coding RNAs (lncRNAs) in spermatogenesis and male infertility.
PMID: 33126901
Reprod Biol Endocrinol · 2020
0.67
5
FAM98A associates with DDX1-C14orf166-FAM98B in a novel complex involved in colorectal cancer progression.
PMID: 28040436
Int J Biochem Cell Biol · 2017
0.56