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    LRRC18 leucine rich repeat containing 18 [ Homo sapiens (human) ]

    Gene ID: 474354, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LRRC18provided by HGNC
    Official Full Name
    leucine rich repeat containing 18provided by HGNC
    Primary source
    HGNC:HGNC:23199
    See related
    Ensembl:ENSG00000165383 MIM:619002; AllianceGenome:HGNC:23199
    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
    UNQ933; UNQ9338; VKGE9338
    Summary
    Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 1.7) and lung (RPKM 0.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC18 in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (48909480..48939840, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (49758686..49789019, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50117525..50147885, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene WDFY family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49953319-49953863 Neighboring gene ribosomal protein L13a pseudogene 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3343 Neighboring gene uncharacterized LOC105378299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50105363-50106123 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:50156438-50157637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50160179-50160678 Neighboring gene uncharacterized LOC105378298 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:50219965-50220220 Neighboring gene microRNA 4294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3345 Neighboring gene V-set and transmembrane domain containing 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:50264962-50265148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50316573-50317551

    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. Identification of a novel testis-specific gene mtLR1, which is expressed at specific stages of mouse spermatogenesis. Nie DS, et al. Biochem Biophys Res Commun, 2005 Mar 25. PMID 15707978
    2. Identification of key genes in coronary artery disease: an integrative approach based on weighted gene co-expression network analysis and their correlation with immune infiltration. Yang Y, et al. Aging (Albany NY), 2021 Mar 3. PMID 33686958, Free PMC Article
    3. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. O'Donnell CJ, et al. BMC Med Genet, 2007 Sep 19. PMID 17903303, Free PMC Article
    4. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Han JW, et al. Nat Genet, 2009 Nov. PMID 19838193
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of key genes in coronary artery disease: an integrative approach based on weighted gene co-expression network analysis and their correlation with immune infiltration.
      Title: Identification of key genes in coronary artery disease: an integrative approach based on weighted gene co-expression network analysis and their correlation with immune infiltration.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC34773

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 18

    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_001006939.4 → NP_001006940.3  leucine-rich repeat-containing protein 18

      See identical proteins and their annotated locations for NP_001006940.3

      Status: VALIDATED

      Source sequence(s)
      AC060234
      Consensus CDS
      CCDS31197.1
      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456
      Conserved Domains (2) summary
      PLN00113
      Location:49 → 188
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:30 → 51
      LRR_RI; leucine-rich repeat [structural motif]

    2. NM_001378102.1 → NP_001365031.1  leucine-rich repeat-containing protein 18

      Status: VALIDATED

      Source sequence(s)
      AC060234
      Consensus CDS
      CCDS31197.1
      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456
      Related
      ENSP00000363275.3, ENST00000374160.8
      Conserved Domains (2) summary
      PLN00113
      Location:49 → 188
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:30 → 51
      LRR_RI; leucine-rich repeat [structural motif]

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      48909480..48939840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539823.2 → XP_011538125.1  leucine-rich repeat-containing protein 18 isoform X1

      See identical proteins and their annotated locations for XP_011538125.1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456
      Conserved Domains (2) summary
      PLN00113
      Location:49 → 188
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:30 → 51
      LRR_RI; leucine-rich repeat [structural motif]

    2. XM_011539822.2 → XP_011538124.1  leucine-rich repeat-containing protein 18 isoform X1

      See identical proteins and their annotated locations for XP_011538124.1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456
      Conserved Domains (2) summary
      PLN00113
      Location:49 → 188
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:30 → 51
      LRR_RI; leucine-rich repeat [structural motif]

    3. XM_017016276.2 → XP_016871765.1  leucine-rich repeat-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456
      Conserved Domains (2) summary
      PLN00113
      Location:49 → 188
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:30 → 51
      LRR_RI; leucine-rich repeat [structural motif]

    4. XM_011539826.4 → XP_011538128.1  leucine-rich repeat-containing protein 18 isoform X1

      See identical proteins and their annotated locations for XP_011538128.1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456
      Conserved Domains (2) summary
      PLN00113
      Location:49 → 188
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:30 → 51
      LRR_RI; leucine-rich repeat [structural motif]

    5. XM_017016277.3 → XP_016871766.1  leucine-rich repeat-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456
      Conserved Domains (2) summary
      PLN00113
      Location:49 → 188
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:30 → 51
      LRR_RI; leucine-rich repeat [structural motif]

    6. XM_011539828.3 → XP_011538130.1  leucine-rich repeat-containing protein 18 isoform X1

      See identical proteins and their annotated locations for XP_011538130.1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456
      Conserved Domains (2) summary
      PLN00113
      Location:49 → 188
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:30 → 51
      LRR_RI; leucine-rich repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      49758686..49789019 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365952.1 → XP_054221927.1  leucine-rich repeat-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456

    2. XM_054365953.1 → XP_054221928.1  leucine-rich repeat-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456

    3. XM_054365951.1 → XP_054221926.1  leucine-rich repeat-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456

    4. XM_054365954.1 → XP_054221929.1  leucine-rich repeat-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456

    5. XM_054365957.1 → XP_054221932.1  leucine-rich repeat-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456

    6. XM_054365956.1 → XP_054221931.1  leucine-rich repeat-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456

    7. XM_054365955.1 → XP_054221930.1  leucine-rich repeat-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      Q6UY02, Q8N456
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N456.2 GenPept UniProtKB/Swiss-Prot:Q8N456

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