DCBLD2

Chr 3

discoidin, CUB and LCCL domain containing 2

Also known as: CLCP1, ESDN

NCBI Gene: 131566 ENSG00000057019 UniProt: Q96PD2

DCBLD2 encodes a cell surface signaling receptor that negatively regulates cell growth and participates in wound healing processes. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants (LOEUF 0.446), suggesting intolerance to protein-truncating mutations.

ResearchSummary from RefSeq

Predicted to enable signaling receptor activity. Involved in negative regulation of cell growth and wound healing. Located in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

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

0.45

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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