LIN28B

Chr 6

lin-28 RNA binding posttranscriptional regulator B

Also known as: CSDD2

NCBI Gene: 389421ENSG00000187772UniProt: Q6ZN17

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]

50
ClinVar variants
17
Pathogenic / LP
0.56
pLI score
0
Active trials
Clinical Summary— LIN28B
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.56) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
17 Pathogenic / Likely Pathogenic· 29 VUS of 50 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.57LOEUF
pLI 0.555
Z-score 2.51
OE 0.18 (0.07–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.28Z-score
OE missense 0.69 (0.59–0.82)
96 obs / 138.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.18 (0.07–0.57)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.69 (0.59–0.82)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.06
0≤1.21.6
LoF obs/exp: 2 / 11.0Missense obs/exp: 96 / 138.4Syn Z: -0.36

ClinVar Variant Classifications

50 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
VUS29
Likely Benign3
Benign1
17
Pathogenic
29
VUS
3
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
0
0
0
VUS
0
25
4
0
29
Likely Benign
0
2
0
1
3
Benign
0
0
0
1
1
Total02721250

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

LIN28B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
LIN28 HOMOLOG B; LIN28B
MIM #611044 · *
📖
GeneReview available — LIN28B
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Molecular targeting therapies for neuroblastoma: Progress and challenges.
Zafar A et al.·Med Res Rev
2021Review
The role of LIN28B in tumor progression and metastasis in solid tumor entities.
Gewalt T et al.·Oncol Res
2023Review
LIN28/LIN28B: an emerging oncogenic driver in cancer stem cells.
Zhou J et al.·Int J Biochem Cell Biol
2013Review
A LIN28B Tumor-Specific Transcript in Cancer.
Guo W et al.·Cell Rep
2018
Recent insights into the biology of neuroblastoma.
Schleiermacher G et al.·Int J Cancer
2014Review
Targeting MYC in multiple myeloma.
Jovanović KK et al.·Leukemia
2018Review
Post-transcriptional (re)programming of B lymphocyte development: From bench to bedside?
Welsh AM et al.·Adv Immunol
2024Review
Does LIN28B gene dysregulation make women more likely to abort?
Huang Q et al.·Reprod Fertil
2021
Targeting LIN28: a new hope in prostate cancer theranostics.
Shrivastava G et al.·Future Oncol
2021Review
Association between LIN28B gene polymorphisms and Wilms' tumor susceptibility.
Zhang Z et al.·Biomark Med
2022
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools