NKX2-2

Chr 20

NK2 homeobox 2

Also known as: NKX2.2, NKX2B

NCBI Gene: 4821 ENSG00000125820 UniProt: O95096 OMIM: 604612

NKX2-2 encodes a homeobox transcription factor that regulates development of insulin-producing beta cells in the pancreas and is involved in central nervous system morphogenesis and axonal guidance. Mutations cause permanent neonatal diabetes mellitus with neurological features, inherited in an autosomal dominant pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.665), reflecting its critical role in early pancreatic and neurological development.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008]

GeneReviews 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)

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P/LP submissions

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P/LP missense

0.67

LOEUF

Mechanism· predicted

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GeneReview available — NKX2-2

Authoritative clinical overview · Recommended first read