Human Gene LRP12 (uc003yma.3) Description and Page Index
Description: Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA. RefSeq Summary (NM_013437): This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. Transcript (Including UTRs) Position: hg19 chr8:105,501,459-105,601,252 Size: 99,794 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr8:105,502,901-105,601,125 Size: 98,225 Coding Exon Count: 7
ID:LRP12_HUMAN DESCRIPTION: RecName: Full=Low-density lipoprotein receptor-related protein 12; Short=LRP-12; AltName: Full=Suppressor of tumorigenicity 7 protein; Flags: Precursor; FUNCTION: Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor. SUBUNIT: May interact with GNB2L1, ZFYVE9 and NMRK2. INTERACTION: P63244:GNB2L1; NbExp=2; IntAct=EBI-296693, EBI-296739; Q9NPI5:NMRK2; NbExp=2; IntAct=EBI-296693, EBI-514059; O95405:ZFYVE9; NbExp=2; IntAct=EBI-296693, EBI-296817; SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Membrane, coated pit. TISSUE SPECIFICITY: Widely expressed in heart, skeletal muscle, brain, lung, placenta and pancreas, but not in tissues consisting of a large number of epithelial cells, such as liver and kidney. Expressed at very low levels in a number of tumor-derived cell lines. SIMILARITY: Belongs to the LDLR family. SIMILARITY: Contains 2 CUB domains. SIMILARITY: Contains 5 LDL-receptor class A domains.
Genetic Association Studies of Complex Diseases and Disorders
Benzodiazepines D E Adkins et al. Molecular psychiatry 2011, Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs., Molecular psychiatry.
Blood Coagulation Factors Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics.
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
Body Weight Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y561
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.