LRP12 (LDL receptor related protein 12)

2003-02-01  

Identity

HGNC
LRP12
LOCATION
8q22.3
LOCUSID
29967
ALIAS
MIG13A,ST7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29967
MIM: 618299
HGNC: 31708
Ensembl: ENSG00000147650

Variants:

dbSNP: 29967
ClinVar: 29967
TCGA: ENSG00000147650
COSMIC: LRP12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147650ENST00000276654Q9Y561
ENSG00000147650ENST00000523007E5RIW8

Expression (GTEx)

0
5
10
15
20
25
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
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

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
373309092023LRP12 is an endogenous transmembrane inactivator of α4 integrins.2
373396312023CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.0
373309092023LRP12 is an endogenous transmembrane inactivator of α4 integrins.2
373396312023CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.0
324934882020Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12.11
324934882020Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12.11
313323802019Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.135
313323802019Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.135
300296722018Epigenomic profiling of non-small cell lung cancer xenografts uncover LRP12 DNA methylation as predictive biomarker for carboplatin resistance.24
300296722018Epigenomic profiling of non-small cell lung cancer xenografts uncover LRP12 DNA methylation as predictive biomarker for carboplatin resistance.24
266398542016LRP12 silencing during brain development results in cortical dyslamination and seizure sensitization.4
271428282016Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas.2
266398542016LRP12 silencing during brain development results in cortical dyslamination and seizure sensitization.4
271428282016Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas.2
204393162011Lrp12/Mig13a reveals changing patterns of preplate neuronal polarity during corticogenesis that are absent in reeler mutant mice.16

Citation

Dessen P

LRP12 (LDL receptor related protein 12)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42424/lrp12-(ldl-receptor-related-protein-12)