MB21D2

Chr 3

Mab-21 domain containing 2

Also known as: C3orf59, D2A, hMB21D2

NCBI Gene: 151963 ENSG00000180611 UniProt: Q8IYB1

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

Research

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

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.69

LOEUF

—

Mechanism

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

Background carrier burden — how many people carry a rare variant somewhere in MB21D2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

583 rare PASS variants

Rare truncating (LoF)

1 in 4,900

41 rare PASS variants

Rare synonymous (reference)

1 in 250

254 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MB21D2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 210	1 in 5,600
South Asian	~43k	1 in 180	1 in 1,900
Remaining (unassigned)	~30k	1 in 150	1 in 6,000
European (Finnish)	~27k	1 in 190	1 in 3,800
Admixed American	~22k	1 in 140	≈ 1 in 11,000
African / African American	~21k	1 in 140	1 in 2,200
East Asian	~20k	1 in 100	≈ 1 in 9,900
Ashkenazi Jewish	~13k	1 in 370	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 84	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓