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

Gene ID: 474354, updated on 5-Mar-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 be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
10q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (48909480..48939840, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (49758686..49789019, complement)
105.20220307 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)

Genotypes

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 
enables protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in protein dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm 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_2023_10

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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