LRP6 (LDL receptor related protein 6)

2003-02-01  

Identity

HGNC
LRP6
LOCATION
12p13.2
LOCUSID
4040
ALIAS
ADCAD2,STHAG7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4040
MIM: 603507
HGNC: 6698
Ensembl: ENSG00000070018

Variants:

dbSNP: 4040
ClinVar: 4040
TCGA: ENSG00000070018
COSMIC: LRP6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070018ENST00000261349O75581
ENSG00000070018ENST00000535731F5H0Z3
ENSG00000070018ENST00000538239H0YGW5
ENSG00000070018ENST00000540527H0YGH0
ENSG00000070018ENST00000543091F5H7J9

Expression (GTEx)

0
5
10
15
20
25
30
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
mTOR signaling pathwayKEGGko04150
Wnt signaling pathwayKEGGko04310
mTOR signaling pathwayKEGGhsa04150
Wnt signaling pathwayKEGGhsa04310
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by WNT in cancerREACTOMER-HSA-4791275
RNF mutants show enhanced WNT signaling and proliferationREACTOMER-HSA-5340588
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Disassembly of the destruction complex and recruitment of AXIN to the membraneREACTOMER-HSA-4641262
Regulation of FZD by ubiquitinationREACTOMER-HSA-4641263
Negative regulation of TCF-dependent signaling by WNT ligand antagonistsREACTOMER-HSA-3772470
Breast cancerKEGGko05224
Breast cancerKEGGhsa05224

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
175698652007Wnt induces LRP6 signalosomes and promotes dishevelled-dependent LRP6 phosphorylation.332
159084242005SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor.225
173324142007LRP6 mutation in a family with early coronary disease and metabolic risk factors.213
180775882008Initiation of Wnt signaling: control of Wnt coreceptor Lrp6 phosphorylation/activation via frizzled, dishevelled and axin functions.186
178048052007R-Spondin1 regulates Wnt signaling by inhibiting internalization of LRP6.114
175176212007Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease.108
175176212007Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease.108
189814752008Parathyroid hormone signaling through low-density lipoprotein-related protein 6.99
192939312009Inhibition of GSK3 phosphorylation of beta-catenin via phosphorylated PPPSPXS motifs of Wnt coreceptor LRP6.90
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85

Citation

Dessen P

LRP6 (LDL receptor related protein 6)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/461/lrp6