Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
753
Gene name Gene Name - the full gene name approved by the HGNC.
Low density lipoprotein receptor class A domain containing 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LDLRAD4
Synonyms (NCBI Gene) Gene synonyms aliases
C18orf1
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18p11.21
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606571 1224 ENSG00000168675
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 32111819
Delirium Associate 32590150
Gastrointestinal Stromal Tumors Associate 32507364
Neoplasm Metastasis Associate 32111819
Neoplasms Inhibit 21448135
Obesity Associate 30547318
Pancreatic Neoplasms Associate 23180869
Periodontitis Associate 30547318
Salivary Gland Neoplasms Associate 10879745