PODXL2

Chr 3

podocalyxin like 2

Also known as: EG, PODLX2

This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins. [provided by RefSeq, Oct 2012]

OMIMResearchGenerating clinical summary…
LOFmechanismLOEUF 0.14
Clinical SummaryPODXL2
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.14LOEUF
pLI 0.999
Z-score 4.27
OE 0.00 (0.000.14)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
0.91Z-score
OE missense 0.86 (0.780.95)
271 obs / 316.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.000.14)
00.351.4
Missense OE?0.86 (0.780.95)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 0 / 21.2Missense obs/exp: 271 / 316.4Syn Z: 0.24

This gene — mechanism propensity

DN
0.3097th %ile
GOF
0.3887th %ile
LOF
0.68top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.14

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PODXL2 · 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

No active trials found for this gene.

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