Gene Information |
Gene ID: | | 3949 |
Symbol: | | LDLR |
Full Name: | | low density lipoprotein receptor (familial hypercholesterolemia) |
Alias: | | FH|FHC |
Organism: | | Homo sapiens (Human) |
Chromosome: | | 19 |
Genetic Location: | | 19p13.3 |
Physical Location: | | 11061131-11105489 on NC_000019.8 |
Gene Type: | | protein-coding |
Orthologs: | | This gene has no orthologs in other dataset(s). |
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Gene in Ethanol Study Datasets |
Gene Information | | Dataset Information | Name: | | Literature Search | Method: | | Literature search | Summary: | | We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive. |
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Gene Refseq Sequence Annotation |
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Gene Ontology (GO) Annotation |
GO ID | GO Term | Category | Evidence (PubMed) | |
GO:0010008 | endosome membrane | Cellular Component | EXP (221835) | |
GO:0016020 | membrane | Cellular Component | IEA | |
GO:0030669 | clathrin-coated endocytic vesicle membrane | Cellular Component | EXP (221835) | |
GO:0005905 | coated pit | Cellular Component | IEA | |
GO:0005887 | integral to plasma membrane | Cellular Component | TAS (6327078) | |
GO:0005886 | plasma membrane | Cellular Component | TAS (2777800) | |
GO:0005886 | plasma membrane | Cellular Component | EXP (221835|8300609) | |
GO:0004888 | transmembrane receptor activity | Molecular Function | TAS (6091915) | |
GO:0008034 | lipoprotein binding | Molecular Function | TAS (6091915) | |
GO:0030229 | very-low-density lipoprotein receptor activity | Molecular Function | IDA (8626535) | |
GO:0004872 | receptor activity | Molecular Function | IEA | |
GO:0005041 | low-density lipoprotein receptor activity | Molecular Function | TAS (2777800) | |
GO:0005319 | lipid transporter activity | Molecular Function | IEA | |
GO:0005509 | calcium ion binding | Molecular Function | IEA | |
GO:0030301 | cholesterol transport | Biological Process | IMP (17142622) | |
GO:0030299 | cholesterol absorption | Biological Process | IMP (17142622) | |
GO:0008203 | cholesterol metabolic process | Biological Process | IEA | |
GO:0008202 | steroid metabolic process | Biological Process | IEA | |
GO:0006897 | endocytosis | Biological Process | TAS (12671190) | |
GO:0006869 | lipid transport | Biological Process | IEA | |
GO:0006629 | lipid metabolic process | Biological Process | TAS (6299582|10827173) | |
GO:0006493 | protein amino acid O-linked glycosylation | Biological Process | TAS (6091915) | |
GO:0042157 | lipoprotein metabolic process | Biological Process | IMP (17142622) | |
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Other Database Cross Links |
NCBI Entrez Gene: | | 3949 |
HGNC: | | 6547 |
Ensembl: | | ENSG00000130164 |
MIM: | | 606945 |
HPRD: | | 06091 |
HuGE Navigator: | | 3949 |
dbSNP: | | LDLR |
GeneCard: | | LDLR |
AceView: | | LDLR |