LIN28B

Chr 6

lin-28 RNA binding posttranscriptional regulator B

Also known as: CSDD2

NCBI Gene: 389421 ENSG00000187772 UniProt: Q6ZN17 OMIM: 611044

LIN28B encodes a protein that suppresses microRNA biogenesis by binding and sequestering let-7 microRNA precursors, thereby preventing their maturation into functional microRNAs that normally promote cellular differentiation. Mutations in LIN28B cause precocious puberty with short stature and early-onset diabetes mellitus, following an autosomal dominant inheritance pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.574), and the associated phenotypes typically manifest in childhood with endocrine dysfunction affecting growth and sexual development.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the lin-28 family, which is characterized by the presence of a cold-shock domain and a pair of CCHC zinc finger domains. This gene is highly expressed in testis, fetal liver, placenta, and in primary human tumors and cancer cell lines. It is negatively regulated by microRNAs that target sites in the 3' UTR, and overexpression of this gene in primary tumors is linked to the repression of let-7 family of microRNAs and derepression of let-7 targets, which facilitates cellular transformation. [provided by RefSeq, Jun 2012]

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

0.57

LOEUF

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Mechanism

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GeneReview available — LIN28B