LDLR (Q14872724)

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protein-coding gene in the species Homo sapiens

FH
FHC
LDLCQ2
low density lipoprotein receptor
FHCL1

Language	Label	Description	Also known as
English	LDLR	protein-coding gene in the species Homo sapiens	FH FHC LDLCQ2 low density lipoprotein receptor FHCL1

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000130164

Protein LDLR PDB 1ajj.png
814 × 627; 158 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

Low density lipoprotein receptor

1 reference

6 July 2017

UniProt protein ID

genetic association

abdominal aortic aneurysm

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_7693&ncbiId=3949

http://www.genome.gov/gwastudies/index.cfm?gene=LDLR

A variant in LDLR is associated with abdominal aortic aneurysm

25 May 2020

cardiovascular disease

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_1287&ncbiId=3949

http://www.genome.gov/gwastudies/index.cfm?gene=LDLR

Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits

25 May 2020

lipid metabolism disorder

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_3146&ncbiId=3949

http://www.genome.gov/gwastudies/index.cfm?gene=LDLR

Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis

25 May 2020

familial hypercholesterolemia

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000130164/EFO_0004911

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 19

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

11200038

human chromosome 19

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

11089462

human chromosome 19

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

11244492

human chromosome 19

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

11133820

human chromosome 19

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

cytogenetic location

19p13.2

1 reference

15 May 2022

55469

1 reference

15 May 2022

Gene Atlas image

PBB GE LDLR 202067 s at fs.png
732 × 530; 10 KB

0 references

PBB GE LDLR 202068 s at fs.png
732 × 530; 11 KB

0 references

PBB GE LDLR 217173 s at fs.png
732 × 530; 11 KB

0 references

1 reference

HomoloGene build68

55469

1 reference

HomoloGene build68

55469

1 reference

HomoloGene build68

55469

lower lobe of lung

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000130164

right adrenal gland

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000130164

left adrenal gland

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000130164

stromal cell of endometrium

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000130164

upper lobe of lung

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000130164

upper lobe of left lung

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000130164

mucosa of urinary bladder

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000130164

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000130164

islet of Langerhans

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000130164

left uterine tube

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000130164

http://identifiers.org/ncbigene/3949

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000130164

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

Ensembl transcript ID

ENST00000560628

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000252444

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000455727

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000535915

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000545707

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000557933

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000557958

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000558013

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000558518

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000558528

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000559340

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000560173

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000560467

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

ENST00000560502

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000130164

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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