MB21D2

Chr 3

Mab-21 domain containing 2

Also known as: C3orf59, D2A, hMB21D2

NCBI Gene: 151963ENSG00000180611UniProt: Q8IYB1

Enables cadherin binding activity. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
LOEUF 0.69
Clinical Summary— MB21D2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.33) despite low pLI — interpret in context.
📋
ClinVar Variants
58 VUS of 62 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

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?
0.69LOEUF
pLI 0.043
Z-score 2.44
OE 0.33 (0.17–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.19Z-score
OE missense 0.80 (0.72–0.90)
230 obs / 286.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.33 (0.17–0.69)
0≤0.351.4
Missense OE?0.80 (0.72–0.90)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 5 / 15.3Missense obs/exp: 230 / 286.6Syn Z: -0.62

ClinVar Variant Classifications

62 submitted variants in ClinVar

ClinVar

Classification Summary

VUS58
58
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
58
0
0
58
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0580058

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

View in ClinVar →

36 pathogenic / likely-pathogenic (of 46) ClinVar copy-number / structural variants overlap MB21D2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

MB21D2 · 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