Gene Gene information from NCBI Gene database.
Entrez ID 753
Gene name Low density lipoprotein receptor class A domain containing 4
Gene symbol LDLRAD4
Synonyms (NCBI Gene)
C18orf1
Chromosome 18
Chromosome location 18p11.21
miRNA miRNA information provided by mirtarbase database.
82
miRTarBase ID miRNA Experiments Reference
MIRT017628 hsa-miR-335-5p Microarray 18185580
MIRT022560 hsa-miR-124-3p Microarray 18668037
MIRT721404 hsa-miR-6510-5p HITS-CLIP 19536157
MIRT721403 hsa-miR-7160-3p HITS-CLIP 19536157
MIRT721402 hsa-miR-2114-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0005515 Function Protein binding IPI 24627487, 32296183, 33961781, 35044719
GO:0005768 Component Endosome IEA
GO:0009968 Process Negative regulation of signal transduction IEA
GO:0010719 Process Negative regulation of epithelial to mesenchymal transition IMP 24627487
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606571 1224 ENSG00000168675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15165
Protein name Low-density lipoprotein receptor class A domain-containing protein 4
Protein function Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 13 47 Low-density lipoprotein receptor domain class A Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in lymphocytes. {ECO:0000269|PubMed:19461657}.
Sequence
MPEAGFQATNAFTECKFTCTSGKCLYLGSLVCNQQNDCGDNSDEENCLLVTEHPPPGIFN
SELEFAQIIIIVVVVTVMVVVIVCLLNHYKVSTRSFINRPNQSRRREDGLPQEGCLWPSD
SAAPRLGASEIMHAPRSRDRFTAPSFIQRDRFSRFQPTYPYVQHEIDLPPTISLSDGEEP
PPYQGPCTLQLRDPEQQMELNRESVRAPPNRTIFDSDLIDIAMYSGGPCPPSSNSGISAS
TCSSNGRMEGPPPTYSEVMGHHPGASFLHHQRSNAHRGSRLQFQQNNAESTIVPIKGKDR
KPGNLV
Sequence length 306
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA 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
Colorectal Neoplasms Colorectal neoplasm Pubtator 32111819 Associate
★☆☆☆☆
Found in Text Mining only
Delirium Delirium Pubtator 32590150 Associate
★☆☆☆☆
Found in Text Mining only
Gastrointestinal Stromal Tumors Gastrointestinal stromal tumor Pubtator 32507364 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Malignant melanoma of choroid Choroidal melanoma GWASCAT_DG 31626034
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of liver Liver Cancer BEFREE 28888937
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer GWASDB_DG 23180869
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27573352
★☆☆☆☆
Found in Text Mining only
Mental disorders Mental Disorders BEFREE 28888937
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 30547318 Associate
★☆☆☆☆
Found in Text Mining only