Seroatlas · Human Serome Atlas

LAGE3

EKC/KEOPS complex subunit LAGE3

Also known as: CVG5, DXS9879E, DXS9951E, ESO3, ITBA2, LAGE3_HUMAN, Pcc1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q14657
Gene
LAGE3
Ensembl
ENSG00000196976
Chromosome
X
Canonical length
143 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

143 residues, UniProt reviewed canonical sequence.

>Q14657|LAGE3
     1  MRDADADAGG GADGGDGRGG HSCRGGVDTA AAPAGGAPPA HAPGPGRDAA SAARGSRMRP
    61  HIFTLSVPFP TPLEAEIAHG SLAPDAEPHQ RVVGKDLTVS GRILVVRWKA EDCRLLRISV
   121  INFLDQLSLV VRTMQRFGPP VSR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LAGE3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.54
Highest tissue expression
51 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 51 nTPM
  • amygdala: 47 nTPM
  • basal ganglia: 45 nTPM
  • hippocampal formation: 43 nTPM
  • midbrain: 33 nTPM
  • pituitary gland: 32 nTPM

Single-cell type

  • hofbauer cells: 186 nCPM
  • epididymal principal cells: 160 nCPM
  • megakaryocytes: 148 nCPM
  • extravillous trophoblasts: 141 nCPM
  • oocytes: 134 nCPM
  • gastric progenitor cells: 124 nCPM

Immune cell

  • naive CD4 T-cell: 81 nTPM
  • plasmacytoid DC: 65 nTPM
  • NK-cell: 46 nTPM
  • naive CD8 T-cell: 41 nTPM
  • memory B-cell: 40 nTPM
  • total PBMC: 39 nTPM

Brain region

  • cerebral cortex: 32 nTPM
  • hippocampal formation: 31 nTPM
  • white matter: 29 nTPM
  • basal ganglia: 28 nTPM
  • thalamus: 26 nTPM
  • cerebellum: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LAGE3.

Disease | AllUniProt

Conditions LAGE3 is implicated in, by any mechanism.

  • Galloway-Mowat syndrome 2, X-linked (GAMOS2) MIM:301006

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 108 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Galloway-Mowat syndrome 2, X-linked

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.81
gnomAD pLI
0.13
gnomAD missense Z
0.41
DepMap mean gene effect
-0.32
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LAGE3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LAGE3 as an antibody target. Whether an autoantibody or antibody against LAGE3 could matter depends on whether native LAGE3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LAGE3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LAGE3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LAGE3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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