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    LGI2 leucine rich repeat LGI family member 2 [ Homo sapiens (human) ]

    Gene ID: 55203, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LGI2provided by HGNC
    Official Full Name
    leucine rich repeat LGI family member 2provided by HGNC
    Primary source
    HGNC:HGNC:18710
    See related
    Ensembl:ENSG00000153012 MIM:608301; AllianceGenome:HGNC:18710
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LGIL2
    Summary
    Predicted to be involved in inhibitory synapse assembly. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in gall bladder (RPKM 3.7), appendix (RPKM 3.2) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LGI2 in Genome Data Viewer
    Location:
    4p15.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (24992081..25030946, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (24973998..25012867, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (25000469..25032568, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:24801347-24801847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24810365-24810945 Neighboring gene coiled-coil domain containing 149 Neighboring gene superoxide dismutase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24858054-24858554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24858555-24859055 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:24864823-24866022 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:24870157-24871356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24918461-24919030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24919031-24919599 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:24966942-24968141 Neighboring gene uncharacterized LOC102723675 Neighboring gene uncharacterized LOC124900684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:25086876-25087376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:25087377-25087877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:25089726-25090269 Neighboring gene uncharacterized LOC105374534 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:25133175-25133701 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:25133702-25134228 Neighboring gene Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21370

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Is LGI2 the candidate gene for partial epilepsy with pericentral spikes? Limviphuvadh V, et al. J Bioinform Comput Biol, 2010 Feb. PMID 20183877
    2. Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2. Limviphuvadh V, et al. BMC Biochem, 2010 Sep 24. PMID 20863412, Free PMC Article
    3. The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins. Gu W, et al. FEBS Lett, 2002 May 22. PMID 12023020
    4. Using gene-history and expression analyses to assess the involvement of LGI genes in human disorders. Gu W, et al. Mol Biol Evol, 2005 Nov. PMID 16014869
    5. A common protein interaction domain links two recently identified epilepsy genes. Scheel H, et al. Hum Mol Genet, 2002 Jul 15. PMID 12095917

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10675, KIAA1916, MGC126808, MGC126810

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in inhibitory synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inhibitory synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat LGI family member 2
    Names
    LGI1-like protein 2
    leucine-rich glioma-inactivated protein 2
    leucine-rich, glioma inactivated 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_018176.4 → NP_060646.2  leucine-rich repeat LGI family member 2 precursor

      See identical proteins and their annotated locations for NP_060646.2

      Status: VALIDATED

      Source sequence(s)
      AC113614, BC101761
      Consensus CDS
      CCDS3431.1
      UniProtKB/Swiss-Prot
      Q3MIN2, Q8N0V4, Q8NDW6, Q96PX2, Q9NVK4
      Related
      ENSP00000371548.4, ENST00000382114.9
      Conserved Domains (4) summary
      TIGR00864
      Location:140 → 215
      PCC; polycystin cation channel protein
      sd00031
      Location:111 → 134
      LRR_1; leucine-rich repeat [structural motif]
      pfam03736
      Location:266 → 304
      EPTP; EPTP domain
      pfam13855
      Location:110 → 169
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      24992081..25030946 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008356.2 → XP_016863845.1  leucine-rich repeat LGI family member 2 isoform X2

    2. XM_011513850.3 → XP_011512152.1  leucine-rich repeat LGI family member 2 isoform X1

      Conserved Domains (5) summary
      sd00031
      Location:111 → 134
      LRR_1; leucine-rich repeat [structural motif]
      pfam03736
      Location:219 → 260
      EPTP; EPTP domain
      pfam12799
      Location:110 → 149
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:110 → 169
      LRR_8; Leucine rich repeat
      cl15307
      Location:167 → 212
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      24973998..25012867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350374.1 → XP_054206349.1  leucine-rich repeat LGI family member 2 isoform X2

    2. XM_054350373.1 → XP_054206348.1  leucine-rich repeat LGI family member 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N0V4.1 GenPept UniProtKB/Swiss-Prot:Q8N0V4

    Gene LinkOut

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

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