LRRC47 (leucine rich repeat containing 47)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 57470
Gene name Leucine rich repeat containing 47
Gene symbol LRRC47
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.32
miRNA miRNA information provided by mirtarbase database.
461
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (461)
miRTarBase ID miRNA Experiments Reference
MIRT032448 hsa-let-7b-5p Proteomics 18668040
MIRT662688 hsa-miR-6768-5p HITS-CLIP 23824327
MIRT662687 hsa-miR-4438 HITS-CLIP 23824327
MIRT662686 hsa-miR-4768-3p HITS-CLIP 23824327
MIRT662685 hsa-miR-6840-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0003723 Function RNA binding IEA
GO:0004826 Function Phenylalanine-tRNA ligase activity IBA
GO:0004826 Function Phenylalanine-tRNA ligase activity IEA
GO:0005515 Function Protein binding IPI 22190034
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619154 29207 ENSG00000130764
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N1G4
Protein name Leucine-rich repeat-containing protein 47
PDB 6ZXD , 6ZXE , 6ZXF , 6ZXG , 8XP3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12799 LRR_4 99 → 150 Leucine Rich repeats (2 copies) Repeat
PF00560 LRR_1 154 → 175 Leucine Rich Repeat Repeat
PF00560 LRR_1 203 → 224 Leucine Rich Repeat Repeat
PF03483 B3_4 332 → 501 B3/4 domain Domain
Sequence 
MAAAAVSESWPELELAERERRRELLLTGPGLEERVRAAGGQLPPRLFTLPLLHYLEVSGC
GSLRAPGPGLAQGLPQLHSLVLRRNALGPGLSPELGPLPALRVLDLSGNALEALPPGQGL
GPAEPPGLPQLQSLNLSGNRLRELPADLARCAPRLQSLNLTGNCLDSFPAELFRPGALPL
LSELAAADNCLRELSPDIAHLASLKTLDLSNNQLSEIPAELADCPKLKEINFRGNKLRDK
RLEKMVSGCQTRSILEYLRVGGRGGGKGKGRAEGSEKEESRRKRRERKQRREGGDGEEQD
VGDAGRLLLRVLHVSENPVPLTVRVSPEVRDVRPYIVGAVVRGMDLQPGNALKRFLTSQT
KLHEDLCEKRTAATLATHELRAVKGPLLYCARPPQDLKIVPLGRKEAKAKELVRQLQLEA
EEQRKQKKRQSVSGLHRYLHLLDGNENYPCLVDADGDVISFPPITNSEKTKVKKTTSDLF
LEVTSATSLQICKDVMDALILKMAEMKKYTLENKEEGSLSDTEADAVSGQLPDPTTNPSA
GKDGPSLLVVEQVRVVDLEGSLKVVYPSKADLATAPPHVTVVR
Sequence length 583
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (2)
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
OVARIAN CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 15176487
★★★★★
★☆☆☆☆
Found in Text Mining only