CLASP2

Chr 3

cytoplasmic linker associated protein 2

NCBI Gene: 23122 ENSG00000163539 UniProt: O75122 OMIM: 605853

The protein stabilizes microtubules at their growing ends and is essential for proper chromosome alignment during cell division and microtubule organization in migrating cells. Mutations cause neurodevelopmental disorders with intellectual disability and epilepsy, typically with autosomal dominant inheritance. This gene is extremely intolerant to loss-of-function mutations (pLI ~1.0), indicating that even single gene copies are critical for normal neurological development.

OMIM ResearchSummary from RefSeq, UniProt

Enables cytoskeletal protein binding activity; dystroglycan binding activity; and protein tyrosine kinase binding activity. Involved in several processes, including cytoskeleton organization; regulation of cell migration; and regulation of supramolecular fiber organization. Located in several cellular components, including basal cortex; focal adhesion; and microtubule cytoskeleton. Is active in glutamatergic synapse. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in CLASP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 49

1,737 rare PASS variants

Rare truncating (LoF)

1 in 1,800

137 rare PASS variants

Rare synonymous (reference)

1 in 81

718 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CLASP2. 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 67	1 in 1,700
South Asian	~43k	1 in 39	1 in 2,700
Remaining (unassigned)	~30k	1 in 45	1 in 2,100
European (Finnish)	~27k	1 in 130	1 in 2,600
Admixed American	~22k	1 in 48	1 in 1,200
African / African American	~21k	1 in 44	≈ 1 in 4,600
East Asian	~20k	1 in 52	1 in 630
Ashkenazi Jewish	~13k	1 in 160	none seen
Middle Eastern	~2,884	1 in 43	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.