LDB2

Chr 4

LIM domain binding 2

Also known as: CLIM1, LDB-2, LDB1

NCBI Gene: 9079 ENSG00000169744 UniProt: O43679 OMIM: 603450

The encoded protein functions as a transcription cofactor that binds to LIM domain-containing transcription factors, enabling assembly of transcriptional regulatory complexes. This gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.34), but no established Mendelian diseases have been definitively linked to LDB2 mutations in current clinical practice. Genetic association studies have suggested potential roles in retinal detachment and coronary artery disease, though these represent complex trait associations rather than monogenic disorders.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization domain and a carboxy-terminal LIM interaction domain. These proteins function as adapter molecules to allow assembly of transcriptional regulatory complexes. Genetic association studies suggest functions for this gene in rhegmatogenous retinal detachment and coronary artery disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

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

0.34

LOEUF· LoF intol.

LOF

Mechanism· predicted