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    IGLON5 IgLON family member 5 [ Homo sapiens (human) ]

    Gene ID: 402665, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IGLON5provided by HGNC
    Official Full Name
    IgLON family member 5provided by HGNC
    Primary source
    HGNC:HGNC:34550
    See related
    Ensembl:ENSG00000142549 MIM:618861; AllianceGenome:HGNC:34550
    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
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 3.7), brain (RPKM 3.6) and 6 other tissues See more
    Orthologs
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    Genomic context

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    See IGLON5 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51311644..51330891)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54399928..54419173)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51814898..51834145)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1872 Neighboring gene uncharacterized LOC107985326 Neighboring gene SIGLEC family like 1 pseudogene Neighboring gene sialic acid binding Ig like lectin 24, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51795724-51796402 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51796403-51797081 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51797760-51798438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51799797-51800474 Neighboring gene Sharpr-MPRA regulatory region 10915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51825217-51825716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51831512-51832434 Neighboring gene V-set and immunoglobulin domain containing 10 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10984 Neighboring gene VSIG10L antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15012 Neighboring gene electron transfer flavoprotein subunit beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51869249-51870208

    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. Papillitis associated with IgLON5 autoimmunity: A novel clinical phenotype. Li X, et al. J Neuroimmunol, 2024 Mar 15. PMID 38364528,
    2. Anti-IgLON5 Disease: A New Bulbar-Onset Motor Neuron Mimic Syndrome. Werner J, et al. Neurol Neuroimmunol Neuroinflamm, 2021 Mar 4. PMID 33531378, Free PMC Article
    3. A Proteomic Screen of Neuronal Cell-Surface Molecules Reveals IgLONs as Structurally Conserved Interaction Modules at the Synapse. Ranaivoson FM, et al. Structure, 2019 Jun 4. PMID 30956130, Free PMC Article
    4. A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study. Sabater L, et al. Lancet Neurol, 2014 Jun. PMID 24703753, Free PMC Article
    5. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Papillitis associated with IgLON5 autoimmunity: A novel clinical phenotype.
      Title: Papillitis associated with IgLON5 autoimmunity: A novel clinical phenotype.
    2. Anti-IgLON5 Disease: A New Bulbar-Onset Motor Neuron Mimic Syndrome.
      Title: Anti-IgLON5 Disease: A New Bulbar-Onset Motor Neuron Mimic Syndrome.
    3. Findings report 89 unpublished cell-surface ligand-receptor pairs and describe structural models of trans interactions of cell adhesion molecules, neuronal (IgLON5), showing that their structures are compatible with a model of interaction across the synaptic cleft.
      Title: A Proteomic Screen of Neuronal Cell-Surface Molecules Reveals IgLONs as Structurally Conserved Interaction Modules at the Synapse.
    4. The target antigen of patients with rapid-eye-movement parasomnia who produce antibodies (mainly IgG4) against IgLON5 is a neuronal cell adhesion molecule that suggests a tauopathy
      Title: A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study.
    Submit: New GeneRIF Correction

    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)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    igLON family member 5
    Names
    Ig-like domain-containing protein ENSP00000270642
    hCG1651476

    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_001101372.3 → NP_001094842.1  igLON family member 5 precursor

      See identical proteins and their annotated locations for NP_001094842.1

      Status: VALIDATED

      Source sequence(s)
      AC063977
      Consensus CDS
      CCDS46158.1
      UniProtKB/Swiss-Prot
      A6NGN9
      Related
      ENSP00000270642.8, ENST00000270642.9
      Conserved Domains (3) summary
      pfam13927
      Location:217 → 295
      Ig_3; Immunoglobulin domain
      cd00096
      Location:41 → 46
      Ig; Ig strand A' [structural motif]
      cl11960
      Location:41 → 129
      Ig; Immunoglobulin domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      51311644..51330891
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438839.1 → XP_047294795.1  igLON family member 5 isoform X1

    RNA

    1. XR_007066829.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      54399928..54419173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321028.1 → XP_054177003.1  igLON family member 5 isoform X1

    RNA

    1. XR_008485153.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NGN9.4 GenPept UniProtKB/Swiss-Prot:A6NGN9

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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