NOTCH2NLB

Chr 1

notch 2 N-terminal like B

NCBI Gene: 100996763 ENSG00000286019 UniProt: P0DPK3 OMIM: 618024

Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Located in extracellular region; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

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

GOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in NOTCH2NLB?

gnomAD v4 · ~718k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 1,100

11 rare PASS variants

Rare truncating (LoF)

1 in 1,900

6 rare PASS variants

Rare synonymous (reference)

1 in 4,200

6 rare PASS variants

Rare missense and truncating variants are carried at similar rates in NOTCH2NLB; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 7 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~547k	1 in 1,300	1 in 11,000
South Asian	~42k	≈ 1 in 39,000	none seen
Remaining (unassigned)	~30k	1 in 1,100	none seen
Admixed American	~22k	1 in 890	1 in 2,100
East Asian	~20k	≈ 1 in 4,600	≈ 1 in 9,800
African / African American	~17k	1 in 620	1 in 650
Ashkenazi Jewish	~13k	≈ 1 in 4,300	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): 0 of 5 coding exons well covered in gnomAD exomes; exons 2, 3, 5 poorly covered; exons 1, 4 marginal. Genomes: 0 of 5 (exons 1, 2, 3, 4, 5 below).? see exons ↓