Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29967
Gene name Gene Name - the full gene name approved by the HGNC.
LDL receptor related protein 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRP12
Synonyms (NCBI Gene) Gene synonyms aliases
ALS28, MIG13A, ST7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALS28
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IDA 26639854
GO:0005041 Function Low-density lipoprotein particle receptor activity NAS 12809483
GO:0005515 Function Protein binding IPI 12809483
GO:0005887 Component Integral component of plasma membrane IDA 12809483
GO:0005905 Component Clathrin-coated pit IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618299 31708 ENSG00000147650
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
28566273
External ophthalmoplegia External Ophthalmoplegia rs1569484022
Oculopharyngeal muscular dystrophy Muscular Dystrophy, Oculopharyngeal rs193922941, rs1594987281 31332380
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Distal Myopathy oculopharyngodistal myopathy 1 GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
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