LRP12 (LDL receptor related protein 12)

2003-02-01  

Identity

HGNC
LOCATION
8q22.3
LOCUSID
ALIAS
MIG13A,ST7
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
204393162011Lrp12/Mig13a reveals changing patterns of preplate neuronal polarity during corticogenesis that are absent in reeler mutant mice.14
128094832003ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways.7
300296722018Epigenomic profiling of non-small cell lung cancer xenografts uncover LRP12 DNA methylation as predictive biomarker for carboplatin resistance.7
313323802019Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.5
266398542016LRP12 silencing during brain development results in cortical dyslamination and seizure sensitization.3
271428282016Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas.2

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