Gene Gene information from NCBI Gene database.
Entrez ID 55631
Gene name Leucine rich repeat containing 40
Gene symbol LRRC40
Synonyms (NCBI Gene)
dJ677H15.1
Chromosome 1
Chromosome location 1p31.1
miRNA miRNA information provided by mirtarbase database.
173
miRTarBase ID miRNA Experiments Reference
MIRT016325 hsa-miR-193b-3p Microarray 20304954
MIRT016662 hsa-miR-425-5p Sequencing 20371350
MIRT020510 hsa-miR-155-5p Proteomics 18668040
MIRT021873 hsa-miR-128-3p Microarray 17612493
MIRT025256 hsa-miR-34a-5p Proteomics 21566225
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 28514442, 32296183, 33961781
GO:0016020 Component Membrane HDA 19946888
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
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H9A6
Protein name Leucine-rich repeat-containing protein 40
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 82 140 Leucine rich repeat Repeat
PF13855 LRR_8 140 186 Leucine rich repeat Repeat
PF13855 LRR_8 151 209 Leucine rich repeat Repeat
PF13855 LRR_8 201 255 Leucine rich repeat Repeat
PF13855 LRR_8 265 324 Leucine rich repeat Repeat
PF00560 LRR_1 543 562 Leucine Rich Repeat Repeat
Sequence
MSRLKRIAGQDLRAGFKAGGRDCGTSVPQGLLKAARKSGQLNLSGRNLSEVPQCVWRINV
DIPEEANQNLSFGATERWWEQTDLTKLIISNNKLQSLTDDLRLLPALTVLDIHDNQLTSL
PSAIRELENLQKLNVSHNK
LKILPEEITNLRNLKCLYLQHNELTCISEGFEQLSNLEDLD
LSNNHL
TTVPASFSSLSSLVRLNLSSNELKSLPAEINRMKRLKHLDCNSNLLETIPPELA
GMESLELLYLRRNKL
RFLPEFPSCSLLKELHVGENQIEMLEAEHLKHLNSILVLDLRDNK
LKSVPDEIILLRSLERLDLSNNDI
SSLPYSLGNLHLKFLALEGNPLRTIRREIISKGTQE
VLKYLRSKIKDDGPSQSESATETAMTLPSESRVNIHAIITLKILDYSDKQATLIPDEVFD
AVKSNIVTSINFSKNQLCEIPKRMVELKEMVSDVDLSFNKLSFISLELCVLQKLTFLDLR
NNFLNSLPEEMESLVRLQTINLSFNRFKMLPEVLYRIFTLETILISNNQVGSVDPQKMKM
MENLTTLDLQNNDLLQIPPELGNCVNLRTLLLDGNPFRVPRAAILMKGTAAILEYLRDRI
PT
Sequence length 602
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations