GCM2

Chr 6

glial cells missing transcription factor 2

ENSG00000124827UniProt: O75603

Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypoparathyroidism, familial isolated, 2
UniProtHyperparathyroidism 4
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.001
Z-score 2.21
OE 0.44 (0.26–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.68Z-score
OE missense 0.89 (0.80–0.98)
246 obs / 277.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.26–0.80)
0≤0.351.4
Missense OE?0.89 (0.80–0.98)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 8 / 18.1Missense obs/exp: 246 / 277.7Syn Z: 0.34

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

GCM2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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