Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LRRC18 Gene

Aliases for LRRC18 Gene

  • Leucine Rich Repeat Containing 18 2 3 5
  • Leucine-Rich Repeat-Containing Protein 18 3
  • VKGE9338 3
  • UNQ9338 3
  • UNQ933 3

External Ids for LRRC18 Gene

Previous GeneCards Identifiers for LRRC18 Gene

  • GC10U900454
  • GC10M049788
  • GC10M050117
  • GC10M044382

Summaries for LRRC18 Gene

GeneCards Summary for LRRC18 Gene

LRRC18 (Leucine Rich Repeat Containing 18) is a Protein Coding gene. Diseases associated with LRRC18 include Usher Syndrome, Type Ik and Deafness, Autosomal Recessive 33. An important paralog of this gene is PIDD1.

UniProtKB/Swiss-Prot for LRRC18 Gene

  • May be involved in the regulation of spermatogenesis and sperm maturation.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRC18 Gene

Genomics for LRRC18 Gene

Regulatory Elements for LRRC18 Gene

Enhancers for LRRC18 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G049008 0.9 ENCODE 10.4 -69.7 -69707 3.4 FOXA2 ATF1 ARID4B YY1 ZNF766 GATA2 SP5 MIER2 PPARG KAT8 VSTM4 FAM170B ENSG00000226576 FAM170B-AS1 WDFY4 DRGX LRRC18 ENSG00000241577 GC10M049015 LOC105378298
GH10G048894 0.5 ENCODE 10.7 +44.7 44736 1.7 MTA2 IKZF1 NBN RELB IKZF2 ENSG00000241577 LRRC18 WDFY4 ENSG00000228403
GH10G049089 1.1 Ensembl ENCODE dbSUPER 4.3 -150.3 -150347 2.6 ARID3A ZNF316 ARNT CEBPB TRIM24 EMSY VSTM4 FAM170B LRRC18 PIR51510 PIR36323
GH10G049113 1.1 ENCODE dbSUPER 4.2 -174.3 -174301 1.9 ZBTB40 REST TFDP1 POLR2H IKZF1 GLIS1 FOXJ2 ZBTB33 PRDM1 ZBTB26 FAM170B LRRC18 FAM170B-AS1 GC10P049105
GH10G049082 1 ENCODE dbSUPER 4.3 -143.4 -143431 2.2 CTCF ATF1 PKNOX1 ARNT RAD21 POLR2A SCRT2 SMC3 JUNB TRIM22 FAM170B VSTM4 FAM170B-AS1 LRRC18 PIR51510 PIR36323
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRRC18 on UCSC Golden Path with GeneCards custom track

Genomic Location for LRRC18 Gene

48,883,696 bp from pter
48,940,126 bp from pter
56,431 bases
Minus strand

Genomic View for LRRC18 Gene

Genes around LRRC18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC18 Gene

Proteins for LRRC18 Gene

  • Protein details for LRRC18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Leucine-rich repeat-containing protein 18
    Protein Accession:
    Secondary Accessions:
    • Q6UY02

    Protein attributes for LRRC18 Gene

    261 amino acids
    Molecular mass:
    29737 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LRRC18 Gene


neXtProt entry for LRRC18 Gene

Post-translational modifications for LRRC18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LRRC18 Gene

Domains & Families for LRRC18 Gene

Protein Domains for LRRC18 Gene

Suggested Antigen Peptide Sequences for LRRC18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LRRC18: view

No data available for Gene Families and UniProtKB/Swiss-Prot for LRRC18 Gene

Function for LRRC18 Gene

Molecular function for LRRC18 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the regulation of spermatogenesis and sperm maturation.

Phenotypes for LRRC18 Gene

genes like me logo Genes that share phenotypes with LRRC18: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LRRC18 Gene

Localization for LRRC18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC18 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRC18 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LRRC18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 NOT plasma membrane IBA --
genes like me logo Genes that share ontologies with LRRC18: view

Pathways & Interactions for LRRC18 Gene

SuperPathways for LRRC18 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA --
genes like me logo Genes that share ontologies with LRRC18: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC18 Gene

Drugs & Compounds for LRRC18 Gene

No Compound Related Data Available

Transcripts for LRRC18 Gene

mRNA/cDNA for LRRC18 Gene

(9) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LRRC18 Gene

Leucine rich repeat containing 18:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC18 Gene

No ASD Table

Relevant External Links for LRRC18 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LRRC18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRRC18 Gene

mRNA differential expression in normal tissues according to GTEx for LRRC18 Gene

This gene is overexpressed in Testis (x38.0).

Protein differential expression in normal tissues from HIPED for LRRC18 Gene

This gene is overexpressed in Platelet (57.8) and Liver, secretome (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LRRC18 Gene

Protein tissue co-expression partners for LRRC18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LRRC18 Gene:


SOURCE GeneReport for Unigene cluster for LRRC18 Gene:


Evidence on tissue expression from TISSUES for LRRC18 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with LRRC18: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC18 Gene

Orthologs for LRRC18 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRRC18 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LRRC18 34 35
  • 98.6 (n)
(Bos Taurus)
Mammalia LRRC18 34 35
  • 85.73 (n)
(Canis familiaris)
Mammalia LRRC18 34 35
  • 85.49 (n)
(Mus musculus)
Mammalia Lrrc18 34 16 35
  • 83.13 (n)
(Rattus norvegicus)
Mammalia Lrrc18 34
  • 82.65 (n)
(Monodelphis domestica)
Mammalia LRRC18 35
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia LRRC18 35
  • 67 (a)
(Gallus gallus)
Aves LRRC18 34 35
  • 62.98 (n)
(Anolis carolinensis)
Reptilia LRRC18 35
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc18 34
  • 63.79 (n)
(Danio rerio)
Actinopterygii lrrc18b 34 35
  • 59.44 (n)
lrrc18a 35
  • 48 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10307 35
  • 20 (a)
CG11099 35
  • 15 (a)
(Caenorhabditis elegans)
Secernentea C14F11.2 35
  • 9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 10 (a)
Species where no ortholog for LRRC18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LRRC18 Gene

Gene Tree for LRRC18 (if available)
Gene Tree for LRRC18 (if available)

Paralogs for LRRC18 Gene

genes like me logo Genes that share paralogs with LRRC18: view

Variants for LRRC18 Gene

Sequence variations from dbSNP and Humsavar for LRRC18 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000023381 -- 48,931,463(+) AGGGC(C/T)GTGCT intron-variant
rs1000082851 -- 48,924,620(+) TGTAC(A/G)ATTTT intron-variant
rs1000131428 -- 48,901,176(+) AGGCG(C/T)ACTTC intron-variant
rs1000210027 -- 48,890,090(+) CCTTG(A/G)CCTTG intron-variant
rs1000222920 -- 48,931,716(+) AAATT(G/T)CTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LRRC18 Gene

Variant ID Type Subtype PubMed ID
nsv1042677 CNV loss 25217958
nsv517287 CNV loss 19592680
nsv831865 CNV gain 17160897

Variation tolerance for LRRC18 Gene

Residual Variation Intolerance Score: 78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.33; 94.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRRC18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC18 Gene

Disorders for LRRC18 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LRRC18 Gene - From: DISEASES

Disorder Aliases PubMed IDs
usher syndrome, type ik
  • usher syndrome type 1k
deafness, autosomal recessive 33
  • autosomal recessive nonsyndromic deafness 33
usher syndrome, type 1b
  • usher syndrome type 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for LRRC18

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with LRRC18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRC18 Gene

Publications for LRRC18 Gene

  1. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. (PMID: 19838193) Han J.W. … Zhang X.J. (Nat. Genet. 2009) 3 46 64
  2. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PMID: 17903303) O'Donnell C.J. … Demissie S. (BMC Med. Genet. 2007) 3 46 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3 64

Products for LRRC18 Gene

Sources for LRRC18 Gene

Loading form....