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GeneE
1 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.
FAM227B
family with sequence similarity 227 member B
Chromosome 15 Β· 15q21.2
NCBI Gene: 196951Ensembl: ENSG00000166262.17HGNC: HGNC:26543UniProt: Q96M60
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
basal cell carcinomachondromalaciaactinic keratosishypothyroidism
✦AI Summary

Based on limited published evidence, FAM227B is a gene of unknown intrinsic function with emerging associations to thyroid dysfunction. Recent multi-omics analysis identified FAM227B as a key candidate gene for hyperthyroidism through cross-tissue transcriptome-wide association and polygenic prioritization 1. GTEx colocalization analysis confirmed significant tissue-specific colocalization between FAM227B and hyperthyroidism signals in the adrenal gland, lung, and minor salivary gland 1. Phenome-wide association studies linked FAM227B to cardiovascular disease associations 1. However, the mechanistic basis for FAM227B's role in thyroid dysfunction and its biochemical function remain uncharacterized.

Sources cited
1
FAM227B identified as key gene for hyperthyroidism through multi-omics integration; shows tissue-specific colocalization with hyperthyroidism signals in adrenal gland, lung, and salivary gland; associated with cardiovascular disease phenotypes
PMID: 41570039
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
basal cell carcinomaOpen Targets
0.38Weak
chondromalaciaOpen Targets
0.29Weak
actinic keratosisOpen Targets
0.27Weak
hypothyroidismOpen Targets
0.26Weak
spondylolisthesisOpen Targets
0.26Weak
nontoxic goiterOpen Targets
0.25Weak
multinodular goiterOpen Targets
0.25Weak
Toxic Nodular GoiterOpen Targets
0.25Weak
ThyrotoxicosisOpen Targets
0.24Weak
colorectal carcinomaOpen Targets
0.23Weak
vascular diseaseOpen Targets
0.22Weak
asthmaOpen Targets
0.22Weak
intestinal diseaseOpen Targets
0.22Weak
liver diseaseOpen Targets
0.21Weak
KeloidOpen Targets
0.21Weak
bone fractureOpen Targets
0.21Weak
thyroid diseaseOpen Targets
0.20Weak
human papilloma virus infectionOpen Targets
0.20Weak
goiterOpen Targets
0.20Weak
hyperthyroidismOpen Targets
0.20Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LRRIQ3Protein interaction73%
Tissue Expression6 tissues
Heart
100%
Ovary
78%
Brain
44%
Liver
42%
Lung
26%
Bone Marrow
24%
Gene Interaction Network
Click a node to explore
FAM227BLRRIQ3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96M60
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.43 [1.05–1.87]
RankingsWhere FAM227B stands among ~20K protein-coding genes
  • #17,052of 20,598
    Most Researched10
  • #17,008of 17,882
    Most Constrained (LOEUF)1.87
Genes detectedFAM227B
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Integrative multi-omics analyses identify key genes and elucidate bidirectional regulatory mechanisms in thyroid dysfunction.
PMID: 41570039
PLoS One Β· 2026
1.00