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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAM50B
family with sequence similarity 50 member B
Chromosome 6 · 6p25.2
NCBI Gene: 26240Ensembl: ENSG00000145945.8HGNC: HGNC:18789UniProt: Q9Y247
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingchromatin organizationnucleusAbnormality of the skeletal systemphosphorus metabolism diseaserenal osteodystrophyazoospermia
✦AI Summary

FAM50B is an imprinted gene located at chromosome 6.2 that functions in chr6 organization and protein binding within the nucleus. The gene shows parent-of-origin-specific expression, with paternal allele expression in most tissues except ovary 1. FAM50B originated through retrotransposition from the X chromosome 6 Therians and acquired imprinting during Eutherian evolution 1. Functionally, FAM50B displays genetic redundancy with its paralog FAM50A; co-disruption of both genes reduces cellular fitness in cancer cells and promotes micronucleus formation with transcriptional perturbation 23. FAM50B is associated with multilocus imprinting disturbances (MLID), where epimutations in FAM50B correlate with severe imprinting defects across multiple genomic regions 4. The gene holds clinical significance for male reproductive health, with variants identified in nonobstructive azoospermia patients 5, and FAM50B expression is deregulated in testicular germ cell tumors 1. Recent evidence demonstrates that FAM50B DNA methylation status serves as a quantitative biomarker correlating with reduced intelligence quotient in lead-exposed children, mediated through PI3K-AKT signaling and reactive oxygen species production 6.

Sources cited
1
FAM50B is an imprinted gene at 6p25.2 with paternal allele expression, originated via retrotransposition from X chromosome, and is deregulated in testicular germ cell tumors
PMID: 21421564
2
FAM50A/FAM50B paralog co-disruption reduces cellular fitness in cancer cells and causes micronucleus formation with transcriptional perturbation
PMID: 33637726
3
FAM50A-FAM50B are functionally redundant paralogs with cancer-relevant dependencies
PMID: 35417719
4
FAM50B epimutations are associated with severe multilocus imprinting disturbances
PMID: 27323310
5
FAM50B variants are identified in nonobstructive azoospermia patients
PMID: 36017582
6
FAM50B DNA methylation quantitatively correlates with intelligence quotient in lead-exposed children via PI3K-AKT signaling and ROS production
PMID: 37866607
7
FAM50B is confirmed as a paternally expressed imprinted gene with adjacent imprinted transcripts
PMID: 31234833
8
FAM50B contains imprinted differentially methylated regions identifiable through DNA methylation profiling
PMID: 21749726
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.29Weak
phosphorus metabolism diseaseOpen Targets
0.26Weak
renal osteodystrophyOpen Targets
0.13Weak
azoospermiaOpen Targets
0.11Weak
adolescent idiopathic scoliosisOpen Targets
0.10Weak
spermatogenic failure 83Open Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 19Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
spermatogenic failure 45Open Targets
0.07Suggestive
spermatogenic failure 49Open Targets
0.07Suggestive
spermatogenic failure 82Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HIRIP3Shared pathway100%HMGN3Shared pathway100%HMGN4Shared pathway100%MSL3Shared pathway100%KLF12Shared pathway100%H2BK1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
94%
Liver
80%
Ovary
61%
Lung
36%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
FAM50BHIRIP3HMGN3HMGN4MSL3KLF12H2BK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y247
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.79Intermediate
Observed/Expected LoF0.34 [0.21–0.60]
RankingsWhere FAM50B stands among ~20K protein-coding genes
  • #12,349of 20,598
    Most Researched28
  • #4,117of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedFAM50B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
PMID: 36017582
Andrology · 2022
1.00
2
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.
PMID: 27323310
Epigenomics · 2016
0.90
3
Quantitative relationships of FAM50B and PTCHD3 methylation with reduced intelligence quotients in school aged children exposed to lead: Evidence from epidemiological and in vitro studies.
PMID: 37866607
Sci Total Environ · 2024
0.80
4
Combinatorial CRISPR screen identifies fitness effects of gene paralogues.
PMID: 33637726
Nat Commun · 2021
0.70
5
Novel retrotransposed imprinted locus identified at human 6p25.
PMID: 21421564
Nucleic Acids Res · 2011
0.60