Gene Gene information from NCBI Gene database.
Entrez ID 29967
Gene name LDL receptor related protein 12
Gene symbol LRP12
Synonyms (NCBI Gene)
ALS28MIG13AST7
Chromosome 8
Chromosome location 8q22.3
Summary 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 variant
miRNA miRNA information provided by mirtarbase database.
179
miRTarBase ID miRNA Experiments Reference
MIRT040084 hsa-miR-615-3p CLASH 23622248
MIRT566890 hsa-miR-302c-3p PAR-CLIP 20371350
MIRT566889 hsa-miR-520f-3p PAR-CLIP 20371350
MIRT566888 hsa-miR-17-5p PAR-CLIP 20371350
MIRT566887 hsa-miR-93-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IDA 26639854
GO:0001764 Process Neuron migration IEA
GO:0001764 Process Neuron migration IEA
GO:0005041 Function Low-density lipoprotein particle receptor activity NAS 12809483
GO:0005178 Function Integrin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618299 31708 ENSG00000147650
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y561
Protein name Low-density lipoprotein receptor-related protein 12 (LDLR-related protein 12) (LRP-12) (Suppressor of tumorigenicity 7 protein)
Protein function Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00431 CUB 47 156 CUB domain Domain
PF00057 Ldl_recept_a 164 200 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 213 254 Low-density lipoprotein receptor domain class A Repeat
PF00431 CUB 259 369 CUB domain Domain
PF00057 Ldl_recept_a 411 448 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 450 485 Low-density lipoprotein receptor domain class A Repeat
Tissue specificity 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 ce
Sequence
MACRWSTKESPRWRSALLLLFLAGVYGNGALAEHSENVHISGVSTACGETPEQIRAPSGI
ITSPGWPSEYPAKINCSWFIRANPGEIITISFQDFDIQGSRRCNLDWLTIETYKNIESYR
ACGSTIPPPYISSQDHIWIRFHSDDNISRKGFRLAY
FSGKSEEPNCACDQFRCGNGKCIP
EAWKCNNMDECGDSSDEEIC
AKEANPPTAAAFQPCAYNQFQCLSRFTKVYTCLPESLKCD
GNIDCLDLGDEIDC
DVPTCGQWLKYFYGTFNSPNYPDFYPPGSNCTWLIDTGDHRKVILR
FTDFKLDGTGYGDYVKIYDGLEENPHKLLRVLTAFDSHAPLTVVSSSGQIRVHFCADKVN
AARGFNATY
QVDGFCLPWEIPCGGNWGCYTEQQRCDGYWHCPNGRDETNCTMCQKEEFPC
SRNGVCYPRSDRCNYQNHCPNGSDEKNC
FFCQPGNFHCKNNRCVFESWVCDSQDDCGDGS
DEENC
PVIVPTRVITAAVIGSLICGLLLVIALGCTCKLYSLRMFERRSFETQLSRVEAEL
LRREAPPSYGQLIAQGLIPPVEDFPVCSPNQASVLENLRLAVRSQLGFTSVRLPMAGRSS
NIWNRIFNFARSRHSGSLALVSADGDEVVPSQSTSREPERNHTHRSLFSVESDDTDTENE
RRDMAGASGGVAAPLPQKVPPTTAVEATVGACASSSTQSTRGGHADNGRDVTSVEPPSVS
PARHQLTSALSRMTQGLRWVRFTLGRSSSLSQNQSPLRQLDNGVSGREDDDDVEMLIPIS
DGSSDFDVNDCSRPLLDLASDQGQGLRQPYNATNPGVRPSNRDGPCERCGIVHTAQIPDT
CLEVTLKNETSDDEALLLC
Sequence length 859
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic lateral sclerosis 28 Conflicting classifications of pathogenicity rs142053596 RCV005392762
Hereditary breast ovarian cancer syndrome Uncertain significance rs2140832143 RCV001374564
LRP12-related disorder Benign rs78131914 RCV003954205
Oculopharyngodistal myopathy 1 Conflicting classifications of pathogenicity rs142053596 RCV005392762
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 37339631
Burkitt Lymphoma Associate 25226156
Cardiovascular Abnormalities Associate 34047774
Deglutition Disorders Associate 34047774
Distal Myopathies Associate 34047774
Dysarthria Associate 34047774
Glaucoma Open Angle Associate 25414181
Lymphoma Associate 25226156
Lymphoma B Cell Associate 25226156
Muscle Neoplasms Associate 34047774