LAGE3 L antigen family member 3
Gene ID: 8270, updated on 3-Nov-2024Gene type: protein coding
Also known as: CVG5; ESO3; Pcc1; ITBA2; GAMOS2; DXS9879E; DXS9951E
- See all available tests in GTR for this gene
- Go to complete Gene record for LAGE3
- Go to Variation Viewer for LAGE3 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Galloway-Mowat syndrome 2, X-linked | See labs |
Genomic context
- Location:
- Xq28
- Sequence:
- Chromosome: X; NC_000023.11 (154477775..154479281, complement)
- Total number of exons:
- 3
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for LAGE3 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.