LAMB4

Chr 7

laminin subunit beta 4

NCBI Gene: 22798ENSG00000091128UniProt: A4D0S4

Predicted to be involved in cell adhesion. Predicted to be located in basement membrane and extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

297
ClinVar variants
20
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— LAMB4
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic· 237 VUS of 297 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
1.01LOEUF
pLI 0.000
Z-score 1.48
OE 0.83 (0.69–1.01)
Tolerant

Highly tolerant — LoF variants common in population

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.
-0.15Z-score
OE missense 1.01 (0.96–1.07)
974 obs / 961.3 exp
Tolerant

Tolerant to missense variation

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.0.83 (0.69–1.01)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.01 (0.96–1.07)
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.0.91
0≤1.21.6
LoF obs/exp: 73 / 88.0Missense obs/exp: 974 / 961.3Syn Z: 1.29

ClinVar Variant Classifications

297 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic20
VUS237
Likely Benign20
Benign19
Conflicting1
20
Pathogenic
237
VUS
20
Likely Benign
19
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
20
0
20
Likely Pathogenic
0
0
0
0
0
VUS
0
234
3
0
237
Likely Benign
0
16
0
4
20
Benign
2
3
2
12
19
Conflicting
—1
Total22532516297

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

View in ClinVar →

Protein Context — Lollipop Plot

LAMB4 · 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
LAMININ, BETA-4; LAMB4
MIM #616380 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing.
Coble JL et al.·Hum Mol Genet
2017
Copy number alterations and copy-neutral loss of heterozygosity in Ukrainian patients with primary myelofibrosis.
Poluben L et al.·Exp Oncol
2019Cohort
The value of basement membrane-associated genes in the prognosis and immune regulation of glioma.
Sun Y et al.·Medicine (Baltimore)
2023
Clinical implications of copy number alteration detection using panel-based next-generation sequencing data in myelodysplastic syndrome.
Kim YJ et al.·Leuk Res
2021Clinical trial
Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.
Smith CG et al.·Hum Mutat
2013
A novel basement membrane-related gene signature for predicting prognosis of HNSCC.
Wang X et al.·Medicine (Baltimore)
2025
Gene-Expression Profiles in Generalized Aggressive Periodontitis: A Gene Network-Based Microarray Analysis.
Guzeldemir-Akcakanat E et al.·J Periodontol
2016
Next-Generation Sequencing of Pulmonary Sarcomatoid Carcinoma Reveals High Frequency of Actionable MET Gene Mutations.
Liu X et al.·J Clin Oncol
2016Case report
Anti-Laminin β4 IgG Drives Tissue Damage in Anti-p200 Pemphigoid and Shows Interactions with Laminin α3 and γ1/2 Chains.
Pigors M et al.·J Invest Dermatol
2025
Laminin β4 is a constituent of the cutaneous basement membrane zone and additional autoantigen of anti-p200 pemphigoid.
Goletz S et al.·J Am Acad Dermatol
2024
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