Lage3 L antigen family, member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lage3provided by MGI
Official Full Name: L antigen family, member 3provided by MGI
Primary source: MGI:MGI:1913442
See related: Ensembl:ENSMUSG00000015289 AllianceGenome:MGI:1913442
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Eso3; Itba2; 1110049G11Rik
Summary: Predicted to be involved in tRNA threonylcarbamoyladenosine metabolic process. Predicted to be located in cytoplasm and nuclear body. Predicted to be part of EKC/KEOPS complex. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome 2. Orthologous to human LAGE3 (L antigen family member 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 29.7), CNS E11.5 (RPKM 29.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.3; X 38.0 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (73395768..73397224, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (74352162..74353618, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

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	ISO Inferred from Sequence Orthology more info
part_of EKC/KEOPS complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: EKC/KEOPS complex subunit Lage3

Names: ITBA2 protein homolog

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.