EEIG1

Chr 9

estrogen-induced osteoclastogenesis regulator 1

Also known as: C9orf132, FAM102A, SYM-3A, bA203J24.7

NCBI Gene: 399665ENSG00000167106UniProt: Q5T9C2OMIM: 610891

The protein is a key component of osteoclastogenesis pathways that mediates bone resorption by facilitating RANKL-induced osteoclast differentiation and recruiting transcriptional repressors to promote osteoclast differentiation factors. The gene is highly constrained against loss-of-function variants (LOEUF 0.584), but no established human disease associations are currently documented in the provided data. Additional clinical and genetic studies would be needed to determine any potential role in pediatric bone disorders.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.58
Clinical Summary— EEIG1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
📋
ClinVar Variants
40 unique Pathogenic / Likely Pathogenic· 76 VUS of 126 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.58LOEUF
pLI 0.110
Z-score 2.84
OE 0.28 (0.14–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.33Z-score
OE missense 0.76 (0.68–0.86)
193 obs / 252.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.28 (0.14–0.58)
0≤0.351.4
Missense OE0.76 (0.68–0.86)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 5 / 18.0Missense obs/exp: 193 / 252.7Syn Z: -0.39
DN
0.6648th %ile
GOF
0.6149th %ile
LOF
0.58top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

126 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic39
Likely Pathogenic1
VUS76
Likely Benign1
39
Pathogenic
1
Likely Pathogenic
76
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
39
0
39
Likely Pathogenic
0
0
1
0
1
VUS
0
74
2
0
76
Likely Benign
0
0
0
1
1
Benign
0
0
0
0
0
Total074421117

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

EEIG1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Genome-Wide Association Study (GWAS) for Identifying SNPs and Genes Related to Phosphate-Induced Phenotypic Traits in Tomato (Solanum lycopersicum L.)
Hakla HR et al.·Plants (Basel)
2024
Erratum to "Predicting drug-free remission in rheumatoid arthritis: A prospective interventional cohort study" [J. Autoimmun. 105 (December 2019) 102298]
Baker KF et al.·J Autoimmun
2022Cohort
Recent advances of NFATc1 in rheumatoid arthritis-related bone destruction: mechanisms and potential therapeutic targets
Zheng H et al.·Mol Med
2024Functional
Genome-Wide Association Study Revealed Putative SNPs and Candidate Genes Associated with Growth and Meat Traits in Japanese Quail
Volkova NA et al.·Genes (Basel)
2024
Targeting Sirt1, AMPK, Nrf2, CK2, and Soluble Guanylate Cyclase with Nutraceuticals: A Practical Strategy for Preserving Bone Mass
McCarty MF et al.·Int J Mol Sci
2022
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients