FAM222B
Chr 17family with sequence similarity 222 member B
Also known as: C17orf63
Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
91
ClinVar variants
6
Pathogenic / LP
0.29
pLI score
0.4
Missense Z
0.54
LOEUF
0
Active trials
Clinical Summary— FAM222B
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
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ClinVar Variants
6 Pathogenic / Likely Pathogenic· 77 VUS of 91 total submissions
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.54LOEUF
pLI 0.292
Z-score 2.90
OE 0.24 (0.12–0.54)
More LoF-intolerant than ~75% of genes
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.42Z-score
OE missense 0.94 (0.85–1.03)
319 obs / 340.7 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.24 (0.12–0.54)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.85–1.03)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.10
0≤1.21.6
LoF obs/exp: 4 / 16.8Missense obs/exp: 319 / 340.7Syn Z: -1.00
ClinVar Variant Classifications
91 submitted variants in ClinVar
Classification Summary
Pathogenic5
Likely Pathogenic1
VUS77
Likely Benign3
Benign4
Conflicting1
5
Pathogenic
1
Likely Pathogenic
77
VUS
3
Likely Benign
4
Benign
1
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 5 | 0 | 5 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 72 | 5 | 0 | 77 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 2 | 1 | 1 | 4 |
Conflicting | — | 1 | |||
| Total | 0 | 77 | 12 | 1 | 91 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAM222B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Delphinidin upregulates microRNA-let-7b expression through family with sequence similarity 222 member B.
Murata M et al.·Sci Rep
2025
Evolutionary analysis through structural modeling of FAM222 proteins reveals a novel disordered conserved domain in vertebrates that interacts with NLK.
Calvario E et al.·Sci Rep
2025Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.
Spiegler S et al.·Mol Syndromol
2016
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Exploration of signature-related FAM genes and correlation between FAM50A expression and the pathogenesis and prognosis of hepatocellular carcinoma.
Wu S et al.·Transl Cancer Res
2025
Exploitation of a shared genetic signature between obesity and endometrioid endometrial cancer
Duan J et al.·Front Surg
2023
Recombination map tailored to Native Hawaiians improves robustness of genomic scans for positive selection
Dinh BL et al.·bioRxiv
2023
Post translational modifications of milk proteins in geographically diverse goat breeds
Rout PK et al.·Sci Rep
2021
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection
Dinh BL et al.·Hum Genet
2023
Integrating Genetic and Single-Cell Genomic Data to Reveal Brain Cell-Specific Regulation of Attention-Deficit/Hyperactivity Disorder Risk in the Prefrontal Cortex
Gui J et al.·Brain Behav
2025
Integrated bioinformatics analyses identifying potential biomarkers for type 2 diabetes mellitus and breast cancer: In SIK1-ness and health
Durrani IA et al.·PLoS One
2023
PARP7-mediated ADP-ribosylation of FRA1 promotes cancer cell growth by repressing IRF1- and IRF3-dependent apoptosis
Manetsch P et al.·Proc Natl Acad Sci U S A
2023
Top 8 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools