Gene Gene information from NCBI Gene database.
Entrez ID 143458
Gene name Low density lipoprotein receptor class A domain containing 3
Gene symbol LDLRAD3
Synonyms (NCBI Gene)
LRAD3
Chromosome 11
Chromosome location 11p13
miRNA miRNA information provided by mirtarbase database.
188
miRTarBase ID miRNA Experiments Reference
MIRT037641 hsa-miR-744-5p CLASH 23622248
MIRT1106744 hsa-miR-105 CLIP-seq
MIRT1106745 hsa-miR-106a CLIP-seq
MIRT1106746 hsa-miR-106b CLIP-seq
MIRT1106747 hsa-miR-1205 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IEA
GO:0005515 Function Protein binding IPI 26854353
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0006898 Process Receptor-mediated endocytosis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617986 27046 ENSG00000179241
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86YD5
Protein name Low-density lipoprotein receptor class A domain-containing protein 3 (LDLR class A domain-containing protein 3)
Protein function May influence APP processing, resulting in a decrease in sAPP-alpha production and increased amyloidogenic P3 peptide production. May regulate ITCH and NEDD4 E3 ligase activity and degradation (PubMed:26854353). {ECO:0000250, ECO:0000269|PubMed:
PDB 7FFF , 7FFL , 7FFN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 27 64 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 69 106 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 111 147 Low-density lipoprotein receptor domain class A Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in brain, lung, skeletal muscle, and pancreas. Expressed at moderate levels in heart, placenta, and kidney but not detected in the liver. {ECO:0000269|PubMed:21795536}.
Sequence
MWLLGPLCLLLSSAAESQLLPGNNFTNECNIPGNFMCSNGRCIPGAWQCDGLPDCFDKSD
EKEC
PKAKSKCGPTFFPCASGIHCIIGRFRCNGFEDCPDGSDEENCTANPLLCSTARYHC
KNGLCIDKSFICDGQNNCQDNSDEESC
ESSQEPGSGQVFVTSENQLVYYPSITYAIIGSS
VIFVLVVALLALVLHHQRKRNNLMTLPVHRLQHPVLLSRLVVLDHPHHCNVTYNVNNGIQ
YVASQAEQNASEVGSPPSYSEALLDQRPAWYDLPPPPYSSDTESLNQADLPPYRSRSGSA
NSASSQAASSLLSVEDTSHSPGQPGPQEGTAEPRDSEPSQGTEEV
Sequence length 345
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER 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
Anxiety Anxiety disorder Pubtator 35577822 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37587156 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 29307994 Stimulate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer BEFREE 29307994, 31521692
★☆☆☆☆
Found in Text Mining only
Mucocutaneous Lymph Node Syndrome Kawasaki disease GWASDB_DG 21221998
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Neurodegenerative disorder Pubtator 35577822 Associate
★☆☆☆☆
Found in Text Mining only
Pancreatic carcinoma Pancreatic carcinoma BEFREE 29307994, 31521692
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 29307994 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 35975639 Associate
★☆☆☆☆
Found in Text Mining only