LAGE3 - L antigen family member 3 Gene

Homo sapiens

Also known as CVG5; ESO3; Pcc1; ITBA2; GAMOS2; DXS9879E; DXS9951E

Gene ID: 8270 | Gene type: protein coding

About LAGE3

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,477,775-154,479,281 (from NCBI)

This gene has 1 transcript (splice variant), 174 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 8.7), adrenal (RPKM 6.8) and 25 other tissues.

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]

LAGE3 Products(1)

mRNA	Protein	Name
NM_006014.5	NP_006005.2	EKC/KEOPS complex subunit LAGE3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of EKC/KEOPS complex	IDA IDA: Inferred from direct assay	27903914	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	28805828	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28805828	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LAGE3 Protein Structure

Pcc1

0
100
143 a.a.

Protein Preferred Names

Protein Names

EKC/KEOPS complex subunit LAGE3

protein ESO-3

LAGE3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	LAGE3	Q14657	KRT40	Homo sapiens	Q6A162	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	KRT40	Homo sapiens	Q6A162	Validated Y2H	32296183
Intra	LAGE3	Q14657	KRT40	Homo sapiens	Q6A162	Y2H Array	25416956
Intra	LAGE3	Q14657	KRT40	Homo sapiens	Q6A162	Y2H Array	32296183
Intra	LAGE3	Q14657	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	LAGE3	Q14657	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	MID2	Homo sapiens	Q9UJV3-2	Y2H Array	32296183
Intra	LAGE3	Q14657	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	32296183
Intra	LAGE3	Q14657	MID2	Homo sapiens	Q9UJV3-2	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	OSGEP	Homo sapiens	Q9NPF4	Validated Y2H	32296183
Intra	LAGE3	Q14657	OSGEP	Homo sapiens	Q9NPF4	Anti Tag CoIP	33961781
Intra	LAGE3	Q14657	PLEKHJ1	Homo sapiens	Q9NW61	Validated Y2H	32296183
Intra	LAGE3	Q14657	PDE9A	Homo sapiens	O76083-2	Y2H Array	32296183
Intra	LAGE3	Q14657	PDE9A	Homo sapiens	O76083-2	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	KRTAP6-3	Homo sapiens	Q3LI67	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	KRTAP6-3	Homo sapiens	Q3LI67	Y2H Array	32296183
Intra	LAGE3	Q14657	MKRN3	Homo sapiens	Q13064	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	MKRN3	Homo sapiens	Q13064	Y2H Array	32296183
Intra	LAGE3	Q14657	MIPOL1	Homo sapiens	Q8TD10	Y2H Array	32296183
Intra	LAGE3	Q14657	MIPOL1	Homo sapiens	Q8TD10	Validated Y2H	32296183
Intra	LAGE3	Q14657	MIPOL1	Homo sapiens	Q8TD10	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	PNMA1	Homo sapiens	Q8ND90	Validated Y2H	32296183
Intra	LAGE3	Q14657	PNMA1	Homo sapiens	Q8ND90	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	PNMA1	Homo sapiens	Q8ND90	Y2H Array	32296183
Intra	LAGE3	Q14657	AKAP8L	Homo sapiens	Q9ULX6	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	AKAP8L	Homo sapiens	Q9ULX6	Validated Y2H	32296183
Intra	LAGE3	Q14657	AKAP8L	Homo sapiens	Q9ULX6	Y2H Array	32296183
Intra	LAGE3	Q14657	POP7	Homo sapiens	O75817	Y2H Array	32296183
Intra	LAGE3	Q14657	POP7	Homo sapiens	O75817	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	POP7	Homo sapiens	O75817	Anti Tag CoIP	33961781
Intra	LAGE3	Q14657	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	LAGE3	Q14657	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
Intra	LAGE3	Q14657	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	PSMB9	Homo sapiens	P28065	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	PSMB9	Homo sapiens	P28065	Y2H Array	32296183
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	Validated Y2H	32296183
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	Anti Tag CoIP	31481669
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	SAXS	31481669
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	Y2H Array	32296183
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	Anti Tag CoIP	33961781
Intra	LAGE3	Q14657	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	LAGE3	Q14657	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	TRIM27	Homo sapiens	P14373	Y2H Array	32296183
Intra	LAGE3	Q14657	TRIM23	Homo sapiens	P36406	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	TRIM23	Homo sapiens	P36406	Y2H Array	32296183
Intra	LAGE3	Q14657	PDE9A	Homo sapiens	O76083	Y2H Prey Pooling	25416956
Intra	LAGE3	Q14657	PDE9A	Homo sapiens	O76083	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Galloway-Mowat Syndrome 2, X-Linked

GAMOS2

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

Galloway-Mowat Syndrome 2

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Galloway-Mowat Syndrome 1

Galloway Syndrome	Nephrosis-Neuronal Dysmigration Syndrome
Nephrosis-Microcephaly Syndrome	Camos
Scar5	GAMOS1
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Microcephaly, Hiatal Hernia And Nephrotic Syndrome
Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities	Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly
Scar5, Formerly	Spinocerebellar Ataxia Autosomal Recessive 5
Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities	Camos Syndrome
Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome	Galloway-Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive, 5	Galloway Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 5

Cerebellar Hypoplasia

Bladder Calculus

Urinary Bladder Calculi	Urinary Bladder Stone
Bladder Calculi	Bladder Stone
Urinary Bladder Calculus	Vesical Calculi
Vesical Calculus	Vesicolithiasis
Cystolithiasis	Cystic Calculi
Cystic Calculus

Polymicrogyria

Pmg

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Lower Urinary Tract Calculus

Calculus Of Lower Urinary Tract

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07493	LAGE3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	LAGE3	MGD	MGI:1913442
Rattus norvegicus	LAGE3	RGD	RGD:1562476

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