LAGE3

Chr XXLR

L antigen family member 3

Also known as: CVG5, DXS9879E, DXS9951E, ESO3, GAMOS2, ITBA2, Pcc1

This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Galloway-Mowat syndrome 2, X-linkedMIM #301006
XLR
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
1.81
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.81LOEUF
pLI 0.127
Z-score 0.49
OE 0.60 (0.191.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.41Z-score
OE missense 0.84 (0.671.08)
46 obs / 54.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.191.81)
00.351.4
Missense OE?0.84 (0.671.08)
00.61.4
Synonymous OE?0.85
01.21.6
LoF obs/exp: 1 / 1.7Missense obs/exp: 46 / 54.5Syn Z: 0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LAGE3 · 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.

Search ClinicalTrials.gov →