Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8270
Gene name Gene Name - the full gene name approved by the HGNC.	L antigen family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LAGE3
Synonyms (NCBI Gene) Gene synonyms aliases	CVG5, DXS9879E, DXS9951E, ESO3, GAMOS2, ITBA2, Pcc1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	GAMOS2
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez 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 o

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1557211306	C>A	Pathogenic	Missense variant, coding sequence variant
rs1557211410	C>T	Pathogenic	Splice donor variant

Show/Hide all(41)

miRTarBase ID	miRNA	Experiments
MIRT1103148	hsa-miR-1915	CLIP-seq
MIRT1103149	hsa-miR-2392	CLIP-seq
MIRT1103150	hsa-miR-3074-5p	CLIP-seq
MIRT1103151	hsa-miR-3157-3p	CLIP-seq
MIRT1103152	hsa-miR-3673	CLIP-seq
MIRT1103153	hsa-miR-4286	CLIP-seq
MIRT1103154	hsa-miR-4318	CLIP-seq
MIRT1103155	hsa-miR-4494	CLIP-seq
MIRT1103156	hsa-miR-4533	CLIP-seq
MIRT1103157	hsa-miR-4648	CLIP-seq
MIRT1103158	hsa-miR-4654	CLIP-seq
MIRT1103159	hsa-miR-4722-3p	CLIP-seq
MIRT1103160	hsa-miR-4726-3p	CLIP-seq
MIRT1103161	hsa-miR-4733-3p	CLIP-seq
MIRT1103162	hsa-miR-4747-5p	CLIP-seq
MIRT1103163	hsa-miR-4769-5p	CLIP-seq
MIRT1103164	hsa-miR-499a-5p	CLIP-seq
MIRT1103165	hsa-miR-521	CLIP-seq
MIRT1103166	hsa-miR-562	CLIP-seq
MIRT1103167	hsa-miR-646	CLIP-seq
MIRT1103168	hsa-miR-890	CLIP-seq
MIRT1103149	hsa-miR-2392	CLIP-seq
MIRT2028205	hsa-miR-3200-5p	CLIP-seq
MIRT2028206	hsa-miR-4251	CLIP-seq
MIRT2028207	hsa-miR-4303	CLIP-seq
MIRT1103154	hsa-miR-4318	CLIP-seq
MIRT2028208	hsa-miR-4329	CLIP-seq
MIRT1103157	hsa-miR-4648	CLIP-seq
MIRT1103158	hsa-miR-4654	CLIP-seq
MIRT2028209	hsa-miR-4762-3p	CLIP-seq
MIRT1103163	hsa-miR-4769-5p	CLIP-seq
MIRT2028210	hsa-miR-502-5p	CLIP-seq
MIRT1103165	hsa-miR-521	CLIP-seq
MIRT1103166	hsa-miR-562	CLIP-seq
MIRT2028211	hsa-miR-580	CLIP-seq
MIRT2028212	hsa-miR-624	CLIP-seq
MIRT2438285	hsa-miR-3685	CLIP-seq
MIRT2438286	hsa-miR-384	CLIP-seq
MIRT2438287	hsa-miR-4659a-3p	CLIP-seq
MIRT2438288	hsa-miR-4659b-3p	CLIP-seq
MIRT2438289	hsa-miR-579	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000408	Component	EKC/KEOPS complex	IBA	21873635
GO:0000408	Component	EKC/KEOPS complex	IDA	27903914, 28805828
GO:0005515	Function	Protein binding	IPI	25416956, 27903914, 28514442, 31481669, 32296183
GO:0005634	Component	Nucleus	IDA	28805828
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	28805828
GO:0008033	Process	TRNA processing	IEA
GO:0008150	Process	Biological_process	ND
GO:0016604	Component	Nuclear body	IDA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0070525	Process	TRNA threonylcarbamoyladenosine metabolic process	IBA	21873635

MIM	HGNC	e!Ensembl
300060	26058	ENSG00000196976

Protein

UniProt ID

Q14657

Protein name

EKC/KEOPS complex subunit LAGE3 (L antigen family member 3) (Protein ESO-3) (Protein ITBA2)

Protein function

Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:27903914). The complex is probably

PDB

6GWJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09341	Pcc1	62 → 135	Transcription factor Pcc1	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12384295, ECO:0000269|PubMed:8786131}.

Sequence

MRDADADAGGGADGGDGRGGHSCRGGVDTAAAPAGGAPPAHAPGPGRDAASAARGSRMRP
HIFTLSVPFPTPLEAEIAHGSLAPDAEPHQRVVGKDLTVSGRILVVRWKAEDCRLLRISV
INFLDQLSLVVRTMQRFGPPVSR

Sequence length

143

Interactions

View interactions

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Galloway-mowat syndrome	Galloway Mowat syndrome, GALLOWAY-MOWAT SYNDROME 2, X-LINKED, Galloway-Mowat syndrome	rs727502863, rs727502864, rs730882216, rs797044992, rs767086146, rs754099015, rs797044993, rs797044994, rs797044995, rs863223396, rs869320712, rs776760122, rs1555976610, rs1557211306, rs1557211209 View all (22 more)	28805828
Glomerulonephritis	Glomerulonephritis, Glomerulonephritis, Minimal Change	rs778043831
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910 View all (152 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Galloway-Mowat Syndrome	Galloway-Mowat syndrome			GenCC

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinoma Hepatocellular	Associate	35313850
Galloway Mowat syndrome	Associate	36755238
Hypothyroidism	Associate	36755238
Melanoma	Stimulate	33829062
Melanoma Cutaneous Malignant	Associate	33829062
Microcephaly	Associate	36755238
Neoplasms	Associate	35313850
Nephrosis congenital	Associate	37845138
Nephrotic Syndrome	Associate	36755238