CORO2B

Chr 15

coronin 2B

Also known as: CLIPINC

NCBI Gene: 10391 ENSG00000103647 UniProt: Q9UQ03 OMIM: 605002

Enables talin binding activity and vinculin binding activity. Acts upstream of or within several processes, including negative regulation of cell-substrate adhesion; regulation of actin cytoskeleton organization; and regulation of establishment of protein localization. Located in focal adhesion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM 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

0.53

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.53LOEUF

pLI 0.057

Z-score 3.32

OE 0.28 (0.16–0.53)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.19Z-score

OE missense 0.65 (0.58–0.73)

199 obs / 306.9 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.28 (0.16–0.53)

0≤0.351.4

Missense OE?0.65 (0.58–0.73)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 7 / 24.9Missense obs/exp: 199 / 306.9Syn Z: 0.66

Background carrier burden — how many people carry a rare variant somewhere in CORO2B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

496 rare PASS variants

Rare truncating (LoF)

1 in 3,800

55 rare PASS variants

Rare synonymous (reference)

1 in 170

256 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CORO2B. 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 250	1 in 4,400
South Asian	~43k	1 in 120	≈ 1 in 11,000
Remaining (unassigned)	~30k	1 in 160	1 in 980
European (Finnish)	~27k	1 in 330	1 in 3,800
Admixed American	~22k	1 in 140	1 in 3,800
African / African American	~21k	1 in 170	≈ 1 in 5,200
East Asian	~20k	1 in 120	≈ 1 in 9,900
Ashkenazi Jewish	~13k	1 in 270	≈ 1 in 4,400
Middle Eastern	~2,884	1 in 150	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): 11 of 12 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 12.? see exons ↓