FGD2

Chr 6

FYVE, RhoGEF and PH domain containing 2

Also known as: ZFYVE4

NCBI Gene: 221472ENSG00000146192UniProt: Q7Z6J4

The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.81
LOEUF
Multiple*
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?
0.81LOEUF
pLI 0.000
Z-score 2.46
OE 0.55 (0.38–0.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.70Z-score
OE missense 0.90 (0.83–0.98)
371 obs / 411.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.38–0.81)
0≤0.351.4
Missense OE?0.90 (0.83–0.98)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 19 / 34.6Missense obs/exp: 371 / 411.2Syn Z: -0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FGD2 · 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