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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Amyotrophic lateral sclerosis 28 Conflicting classifications of pathogenicity ClinVar
ClinVar, Disgenet, HPO
ClinVar, Disgenet, HPO
ClinVar, Disgenet, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Hereditary breast ovarian cancer syndrome Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LONG QT SYNDROME 2 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LRP12-related disorder Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30029672
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 37339631 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 25226156
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain atrophy Brain atrophy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12799635
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 12107844, 12799635, 23875900 Associate
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 25226156 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 12107844 Associate
★☆☆☆☆
Found in Text Mining only