LAGE3 L antigen family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAGE3provided by HGNC
Official Full Name: L antigen family member 3provided by HGNC
Primary source: HGNC:HGNC:26058
See related: Ensembl:ENSG00000196976 MIM:300060; AllianceGenome:HGNC:26058
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CVG5; ESO3; Pcc1; ITBA2; GAMOS2; DXS9879E; DXS9951E
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]
Expression: Ubiquitous expression in brain (RPKM 8.7), adrenal (RPKM 6.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154477775..154479281, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152714284..152715790, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153706114..153707620, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LAGE3 promotes cell metastasis and stemness in non-small cell lung cancer companied with AKT/PI3K signaling pathway activation.
Title: LAGE3 promotes cell metastasis and stemness in non-small cell lung cancer companied with AKT/PI3K signaling pathway activation.
LAGE3 promoted cell proliferation, migration, and invasion and inhibited cell apoptosis of hepatocellular carcinoma by facilitating the JNK and ERK signaling pathway.
Title: LAGE3 promoted cell proliferation, migration, and invasion and inhibited cell apoptosis of hepatocellular carcinoma by facilitating the JNK and ERK signaling pathway.
lncRNA NEAT1 regulates the proliferation and migration of hepatocellular carcinoma cells by acting as a miR320a molecular sponge and targeting L antigen family member 3.
Title: lncRNA NEAT1 regulates the proliferation and migration of hepatocellular carcinoma cells by acting as a miR‑320a molecular sponge and targeting L antigen family member 3.
LAGE3 correlates with tumorigenic immune infiltrates in the clear cell renal cell carcinoma microenvironment.
Title: LAGE3 correlates with tumorigenic immune infiltrates in the clear cell renal cell carcinoma microenvironment.
Identification and validation of L Antigen Family Member 3 as an immune-related biomarker associated with the progression of papillary thyroid cancer.
Title: Identification and validation of L Antigen Family Member 3 as an immune-related biomarker associated with the progression of papillary thyroid cancer.
Upregulation of LAGE3 correlates with prognosis and immune infiltrates in colorectal cancer: A bioinformatic analysis.
Title: Upregulation of LAGE3 correlates with prognosis and immune infiltrates in colorectal cancer: A bioinformatic analysis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Galloway-Mowat syndrome 2, X-linked MedGen: C4538784 OMIM: 301006 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD09785 (e-PCR)
- UniSTS:290826

REN89727 (e-PCR)
- UniSTS:414525

REN89728 (e-PCR)
- UniSTS:414526

REN89729 (e-PCR)
- UniSTS:414527

REN89730 (e-PCR)
- UniSTS:414528

REN89731 (e-PCR)
- UniSTS:414529

REN89732 (e-PCR)
- UniSTS:414530

REN89733 (e-PCR)
- UniSTS:414531

REN89734 (e-PCR)
- UniSTS:414532

REN89735 (e-PCR)
- UniSTS:414533

REN89736 (e-PCR)
- UniSTS:414534

REN89737 (e-PCR)
- UniSTS:414535

REN89738 (e-PCR)
- UniSTS:414536

REN89739 (e-PCR)
- UniSTS:414537

REN89740 (e-PCR)
- UniSTS:414538

REN89741 (e-PCR)
- UniSTS:414539

REN89742 (e-PCR)
- UniSTS:414540

REN89743 (e-PCR)
- UniSTS:414541

REN89744 (e-PCR)
- UniSTS:414542

REN89745 (e-PCR)
- UniSTS:414543

REN89746 (e-PCR)
- UniSTS:414544

REN89747 (e-PCR)
- UniSTS:414545

A008I20 (e-PCR)
- UniSTS:62301

ECD09741 (e-PCR)
- UniSTS:290782

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in tRNA processing	IEA Inferred from Electronic Annotation more info
involved_in tRNA threonylcarbamoyladenosine metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of EKC/KEOPS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of EKC/KEOPS complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: EKC/KEOPS complex subunit LAGE3

Names: protein ESO-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.