PHETA2

Chr 22

PH domain containing endocytic trafficking adaptor 2

Also known as: FAM109B, IPIP27B, Ses2

NCBI Gene: 150368ENSG00000177096UniProt: Q6ICB4

Enables protein homodimerization activity. Involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.79
LOEUF
GOF
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.79LOEUF
pLI 0.000
Z-score -0.20
OE 1.08 (0.63–1.79)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.82Z-score
OE missense 0.82 (0.71–0.94)
132 obs / 161.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.08 (0.63–1.79)
0≤0.351.4
Missense OE?0.82 (0.71–0.94)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 8 / 7.4Missense obs/exp: 132 / 161.5Syn Z: 0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PHETA2 · 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