Gene Gene information from NCBI Gene database.
Entrez ID 474354
Gene name Leucine rich repeat containing 18
Gene symbol LRRC18
Synonyms (NCBI Gene)
UNQ933UNQ9338VKGE9338
Chromosome 10
Chromosome location 10q11.23
miRNA miRNA information provided by mirtarbase database.
48
miRTarBase ID miRNA Experiments Reference
MIRT1118996 hsa-miR-1321 CLIP-seq
MIRT1118997 hsa-miR-3150b-3p CLIP-seq
MIRT1118998 hsa-miR-3165 CLIP-seq
MIRT1118999 hsa-miR-3179 CLIP-seq
MIRT1119000 hsa-miR-3190 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0035556 Process Intracellular signal transduction IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619002 23199 ENSG00000165383
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N456
Protein name Leucine-rich repeat-containing protein 18
Protein function May be involved in the regulation of spermatogenesis and sperm maturation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 30 85 Leucine rich repeat Repeat
PF13855 LRR_8 50 108 Leucine rich repeat Repeat
PF13855 LRR_8 73 133 Leucine rich repeat Repeat
Sequence
MVKGEKGPKGKKITLKVARNCIKITFDGKKRLDLSKMGITTFPKCILRLSDMDELDLSRN
LIRKIPDSISKF
QNLRWLDLHSNYIDKLPESIGQMTSLLYLNVSNNRLTSNGLPVELKQL
KNIRAVNLGLNHL
DSVPTTLGALKELHEVGLHDNLLNNIPVSISKLPKLKKLNIKRNPFP
KPGESEIFIDSIRRLENLYVVEEKDLCAACLRKCQNARDNLNRIKNMATTTPRKTIFPNL
ISPNSMAKDSWEDWRIRLTSS
Sequence length 261
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
RECTUM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Coronary Artery Disease Coronary artery disease Pubtator 33686958 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus GWASCAT_DG 19838193
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus GWASDB_DG 19838193
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus BEFREE 22972472
★☆☆☆☆
Found in Text Mining only
Pulmonary edema of mountaineers Pulmonary edema Pubtator 35885976 Associate
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis GWASDB_DG 19503088
★☆☆☆☆
Found in Text Mining only