Gene Gene information from NCBI Gene database.
Entrez ID 401944
Gene name Low density lipoprotein receptor class A domain containing 2
Gene symbol LDLRAD2
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.12
miRNA miRNA information provided by mirtarbase database.
81
miRTarBase ID miRNA Experiments Reference
MIRT496862 hsa-miR-6784-5p PAR-CLIP 22291592
MIRT496861 hsa-miR-1292-3p PAR-CLIP 22291592
MIRT496860 hsa-miR-6762-5p PAR-CLIP 22291592
MIRT496859 hsa-miR-6845-5p PAR-CLIP 22291592
MIRT495785 hsa-miR-3974 PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
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.
Q5SZI1
Protein name Low-density lipoprotein receptor class A domain-containing protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 171 213 Low-density lipoprotein receptor domain class A Repeat
Sequence
MEACCLLQLPQRLLLLGAAALTATALETADLAELCGQTWQGDGLLLRSHAASRRFYFVAP
DTDCGLWVQAAAPGDRIRFQFRFFLVYSLTPAPPALNTSSPAPADPCAPGSYLQFYEGPP
GAPRPLGSPLCGLNIPVPVASSGPFLGLRLVTRGRQPRVDFVGEVTSFRLGPCGAYFRCQ
NGRCIPSSLVCDPWGMDNCGDGSDQGSWSPADC
RGPSPVPSQTGSTDAHTSRSLTPSPAL
GSAGSLWIAAERSSPAGRDPTRQDAALEGSTE
Sequence length 272
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
CONNECTIVE TISSUE DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSSEGMENTAL DYSPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations