PHLDB2

Chr 3

pleckstrin homology like domain family B member 2

Also known as: LL5b, LL5beta

NCBI Gene: 90102ENSG00000144824UniProt: Q86SQ0

Enables cadherin binding activity. Involved in several processes, including basement membrane organization; negative regulation of cellular component organization; and negative regulation of wound healing, spreading of epidermal cells. Located in several cellular components, including basal cortex; focal adhesion; and podosome. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.59
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.59LOEUF
pLI 0.000
Z-score 4.01
OE 0.42 (0.30–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.38Z-score
OE missense 0.96 (0.90–1.02)
650 obs / 677.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.30–0.59)
0≤0.351.4
Missense OE?0.96 (0.90–1.02)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 23 / 55.1Missense obs/exp: 650 / 677.6Syn Z: -0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PHLDB2 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients