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    Lgi2 leucine-rich repeat LGI family, member 2 [ Mus musculus (house mouse) ]

    Gene ID: 246316, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Lgi2provided by MGI
    Official Full Name
    leucine-rich repeat LGI family, member 2provided by MGI
    Primary source
    MGI:MGI:2180196
    See related
    Ensembl:ENSMUSG00000039252 AllianceGenome:MGI:2180196
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA1916
    Summary
    Involved in inhibitory synapse assembly. Located in extracellular space. Is expressed in several structures, including alimentary system; brain; nose; orbito-sphenoid; and salivary gland primordium. Orthologous to human LGI2 (leucine rich repeat LGI family member 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 13.1), cortex adult (RPKM 6.4) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Lgi2 in Genome Data Viewer
    Location:
    5 C1; 5 28.25 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (52690859..52723689, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (52533517..52566306, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene superoxide dismutase 3, extracellular Neighboring gene coiled-coil domain containing 149 Neighboring gene predicted gene 3519 Neighboring gene STARR-seq mESC enhancer starr_13063 Neighboring gene STARR-seq mESC enhancer starr_13064 Neighboring gene predicted gene 5866 Neighboring gene RIKEN cDNA 8030423F21 gene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Senechal KR, et al. Hum Mol Genet, 2005 Jun 15. PMID 15857855
    2. Regional distribution of the leucine-rich glioma inactivated (LGI) gene family transcripts in the adult mouse brain. Herranz-Pérez V, et al. Brain Res, 2010 Jan 11. PMID 19833108
    3. LGI3/2-ADAM23 interactions cluster Kv1 channels in myelinated axons to regulate refractory period. Kozar-Gillan N, et al. J Cell Biol, 2023 Apr 3. PMID 36828548, Free PMC Article
    4. The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. Staub E, et al. Trends Biochem Sci, 2002 Sep. PMID 12217514
    5. Distinct molecular programs regulate synapse specificity in cortical inhibitory circuits. Favuzzi E, et al. Science, 2019 Jan 25. PMID 30679375

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inhibitory synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inhibitory synapse assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space HDA PubMed 

    General protein information

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    Preferred Names
    leucine-rich repeat LGI family member 2
    Names
    leucine-rich glioma-inactivated protein 2

    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.

    mRNA and Protein(s)

    1. NM_001310604.1 → NP_001297533.1  leucine-rich repeat LGI family member 2 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon and uses an alternate in-frame splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC120128, AI843865, AJ487515, CJ124394
      Consensus CDS
      CCDS80281.1
      UniProtKB/TrEMBL
      Q50DZ7
      Related
      ENSMUSP00000143707.2, ENSMUST00000199942.5
      Conserved Domains (5) summary
      sd00031
      Location:108 → 131
      LRR_1; leucine-rich repeat [structural motif]
      pfam03736
      Location:216 → 257
      EPTP; EPTP domain
      pfam12799
      Location:107 → 146
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:107 → 166
      LRR_8; Leucine rich repeat
      cl15307
      Location:164 → 198
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

    2. NM_144945.3 → NP_659194.1  leucine-rich repeat LGI family member 2 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encode the longer isoform (1).
      Source sequence(s)
      AC120128, AI843865, AJ487515
      Consensus CDS
      CCDS19285.1
      UniProtKB/Swiss-Prot
      Q80T76, Q8K4Z0
      Related
      ENSMUSP00000040436.6, ENSMUST00000039750.7
      Conserved Domains (6) summary
      sd00031
      Location:108 → 131
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:63 → 83
      LRR_RI; leucine-rich repeat [structural motif]
      pfam03736
      Location:224 → 265
      EPTP; EPTP domain
      pfam12799
      Location:107 → 143
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:94 → 142
      LRR_8; Leucine rich repeat
      cl15307
      Location:140 → 174
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      52690859..52723689 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503965.4 → XP_006504028.1  leucine-rich repeat LGI family member 2 isoform X1

      UniProtKB/TrEMBL
      Q8BYS1
      Conserved Domains (1) summary
      pfam03736
      Location:48 → 87
      EPTP; EPTP domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K4Z0.1 GenPept UniProtKB/Swiss-Prot:Q8K4Z0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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