Gene Gene information from NCBI Gene database.
Entrez ID 81543
Gene name Leucine rich repeat containing 3
Gene symbol LRRC3
Synonyms (NCBI Gene)
C21orf102C21orf30LRRC3DN
Chromosome 21
Chromosome location 21q22.3
miRNA miRNA information provided by mirtarbase database.
118
miRTarBase ID miRNA Experiments Reference
MIRT1119506 hsa-miR-1299 CLIP-seq
MIRT1119507 hsa-miR-1304 CLIP-seq
MIRT1119508 hsa-miR-2355-5p CLIP-seq
MIRT1119509 hsa-miR-24 CLIP-seq
MIRT1119510 hsa-miR-3122 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 17474147
GO:0005886 Component Plasma membrane IBA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617620 14965 ENSG00000160233
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BY71
Protein name Leucine-rich repeat-containing protein 3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01462 LRRNT 32 63 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 65 113 Leucine rich repeat Repeat
PF00560 LRR_1 114 136 Leucine Rich Repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed; detected in testis, lung, small intestine, breast, brain, heart, bone marrow, placenta, colon, fetal brain, liver, fetal liver, thymus, salivary gland, spinal cord, spleen, trachea and adrenal gland.
Sequence
MGTVRPPRPSLLLVSTRESCLFLLFCLHLGAACPQPCRCPDHAGAVAVFCSLRGLQEVPE
DIP
ANTVLLKLDANKISHLPDGAFQHLHRLRELDLSHNAIEAIGSATFAGLAGGLRLLDL
SYNRIQRIPKDALGKL
SAKIRLSHNPLHCECALQEALWELKLDPDSVDEIACHTSVQEEF
VGKPLVQALDAGASLCSVPHRTTDVAMLVTMFGWFAMVIAYVVYYVRHNQEDARRHLEYL
KSLPSAPASKDPIGPGP
Sequence length 257
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
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER 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
Intracranial Aneurysm Intracranial Aneurysm GWASCAT_DG 30823506
★☆☆☆☆
Found in Text Mining only
Polycythemia Vera Polycythemia vera Pubtator 28427458 Associate
★☆☆☆☆
Found in Text Mining only