Aliases for LRRC18 Gene

Aliases for LRRC18 Gene

  • Leucine Rich Repeat Containing 18 2 3 5
  • Leucine-Rich Repeat-Containing Protein 18 3 4
  • 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 LRCH1.

UniProtKB/Swiss-Prot Summary for LRRC18 Gene

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

Additional gene information for LRRC18 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC18 Gene

Genomics for LRRC18 Gene

GeneHancer (GH) Regulatory Elements for LRRC18 Gene

Promoters and enhancers for LRRC18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J048935 Promoter/Enhancer 0.6 EPDnew Ensembl 750.6 +4.9 4926 0.8 PRDM10 ENSG00000241577 LRRC18 ENSG00000228403 WDFY4
GH10J048939 Promoter 0.3 EPDnew 750.6 +0.3 266 0.1 LRRC18 ENSG00000241577 WDFY4
GH10J048701 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.4 +235.0 235025 9.4 RAD21 MLLT1 IKZF1 IKZF2 NFE2 MAFG USF1 NR2F1 SMARCA5 CUX1 WDFY4 ARHGAP22 ENSG00000241577 LRRC18 DRGX RPL13AP19
GH10J049113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.2 -174.6 -174625 2.5 ZBTB40 CTCF ZBTB6 L3MBTL2 PRDM1 ZIC2 REST ZNF639 ZNF24 POLR2A VSTM4 FAM170B RNA5SP317 TIMM23B-AGAP6 LRRC18 FAM170B-AS1 piR-33313-002
GH10J049008 Enhancer 0.7 Ensembl ENCODE 10.4 -69.9 -69875 4.4 L3MBTL2 CBFA2T2 POLR2A NR2C2 NR2F2 CBFA2T3 VSTM4 FAM170B ENSG00000226576 FAM170B-AS1 WDFY4 DRGX LRRC18 ENSG00000241577 lnc-LRRC18-110 ENSG00000233665
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC18 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LRRC18 gene promoter:
  • AML1a
  • ATF6
  • E47
  • FOXJ2
  • FOXJ2 (long isoform)
  • Hand1
  • MZF-1
  • Nkx6-1
  • p300
  • Pbx1a

Genomic Locations for LRRC18 Gene

Genomic Locations for LRRC18 Gene
chr10:48,883,696-48,940,126
(GRCh38/hg38)
Size:
56,431 bases
Orientation:
Minus strand
chr10:50,117,528-50,143,242
(GRCh37/hg19)
Size:
25,715 bases
Orientation:
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:
    Q8N456-LRC18_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 18
    Protein Accession:
    Q8N456
    Secondary Accessions:
    • Q6UY02

    Protein attributes for LRRC18 Gene

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

    Alternative splice isoforms for LRRC18 Gene

    UniProtKB/Swiss-Prot:

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

Gene Families for LRRC18 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LRRC18 Gene

Suggested Antigen Peptide Sequences for LRRC18 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat-containing protein 18 (LRC18_HUMAN)
genes like me logo Genes that share domains with LRRC18: view

No data available for Graphical View of Domain Structure 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 From GWAS Catalog for LRRC18 Gene

Gene Ontology (GO) - Molecular Function for LRRC18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005225 volume-sensitive anion channel activity IBA 21873635
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with LRRC18: view
genes like me logo Genes that share phenotypes with LRRC18: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 1
mitochondrion 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for LRRC18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0034702 ion channel complex IBA 21873635
genes like me logo Genes that share ontologies with LRRC18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LRRC18 Gene

Pathways & Interactions for LRRC18 Gene

PathCards logo

SuperPathways for LRRC18 Gene

No Data Available

Interacting Proteins for LRRC18 Gene

Selected Interacting proteins: Q8N456-LRC18_HUMAN for LRRC18 Gene via IID

Symbol External ID(s) Details
KCTD17
SUGT1

Gene Ontology (GO) - Biological Process for LRRC18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015698 inorganic anion transport IEA --
GO:0098656 anion transmembrane transport IBA 21873635
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

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

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for LRRC18 Gene

GeneLoc Exon Structure for
LRRC18
ECgene alternative splicing isoforms for
LRRC18

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 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:

LRRC18

SOURCE GeneReport for Unigene cluster for LRRC18 Gene:

Hs.202438

Evidence on tissue expression from TISSUES for LRRC18 Gene

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

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
chimpanzee
(Pan troglodytes)
Mammalia LRRC18 33 32
  • 98.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LRRC18 33 32
  • 85.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC18 33 32
  • 85.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc18 17 33 32
  • 83.13 (n)
rat
(Rattus norvegicus)
Mammalia Lrrc18 32
  • 82.65 (n)
oppossum
(Monodelphis domestica)
Mammalia LRRC18 33
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC18 33
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC18 33 32
  • 62.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC18 33
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc18 32
  • 63.79 (n)
zebrafish
(Danio rerio)
Actinopterygii lrrc18b 33 32
  • 59.44 (n)
OneToMany
lrrc18a 33
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10307 33
  • 20 (a)
OneToMany
CG11099 33
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C14F11.2 33
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 10 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for LRRC18 (if available)
TreeFam:
Gene Tree for LRRC18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC18: view image

Paralogs for LRRC18 Gene

Variants for LRRC18 Gene

Sequence variations from dbSNP and Humsavar for LRRC18 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000023381 -- 48,931,463(-) C/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000082851 -- 48,924,620(-) A/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000131428 -- 48,901,176(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000210027 -- 48,890,090(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000222920 -- 48,931,716(-) T/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, 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)

Additional Variant Information for LRRC18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC18

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LRRC18

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 JW … Zhang XJ (Nature genetics 2009) 3 43 56
  2. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PMID: 17903303) O'Donnell CJ … Demissie S (BMC medical genetics 2007) 3 43 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  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 HF … Gray A (Genome research 2003) 3 4 56
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56

Products for LRRC18 Gene

Sources for LRRC18 Gene