VLDLR (very low density lipoprotein receptor)

2011-04-01  

Identity

HGNC
VLDLR
LOCATION
9p24.2
LOCUSID
7436
ALIAS
CAMRQ1,CARMQ1,CHRMQ1,VLDL-R,VLDLRCH

Other Information

Locus ID:

NCBI: 7436
MIM: 192977
HGNC: 12698
Ensembl: ENSG00000147852

Variants:

dbSNP: 7436
ClinVar: 7436
TCGA: ENSG00000147852
COSMIC: VLDLR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147852ENST00000382096Q5VVF8
ENSG00000147852ENST00000382099P98155
ENSG00000147852ENST00000382099Q5VVF5
ENSG00000147852ENST00000382100P98155

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
VLDL interactionsREACTOMER-HSA-8855121
VLDLR internalisation and degradationREACTOMER-HSA-8866427
Reelin signalling pathwayREACTOMER-HSA-8866376

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
180396582008The proprotein convertase PCSK9 induces the degradation of low density lipoprotein receptor (LDLR) and its closest family members VLDLR and ApoER2.108
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
160801222005Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.72
158638332005The apoE isoform binding properties of the VLDL receptor reveal marked differences from LRP and the LDL receptor.71
163849812006Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.64
163849812006Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.64
178907822007Very low density lipoprotein receptor, a negative regulator of the wnt signaling pathway and choroidal neovascularization.50
190152242009Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss.46
183266292008Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.44
159507582005Regulation of ApoE receptor proteolysis by ligand binding.39

Citation

Dessen P

VLDLR (very low density lipoprotein receptor)

Atlas Genet Cytogenet Oncol Haematol. 2011-04-01

Online version: http://atlasgeneticsoncology.org/gene/52167/vldlr