Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4041
Gene name	LDL receptor related protein 5
Gene symbol	LRP5
Synonyms (NCBI Gene)	BMND1EVR1EVR4HBMLR3LRP-5LRP-7LRP7OPPGOPSOPTA1PCLD4VBCH2
Chromosome	11
Chromosome location	11q13.2
Summary	This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by

Show/Hide all (78)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1127291	C>G,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs2306862	C>T	Benign, affects	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs28939709	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs61889560	G>A,T	Likely-benign, uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs78219242	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80358305	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80358307	GGGGAAGAGG>-	Pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs80358308	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80358312	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant
rs80358313	G>A,C,T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs80358317	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs80358319	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs80358321	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs80358322	T>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs113315676	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs121908660	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, stop gained
rs121908661	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs121908662	->T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs121908663	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121908664	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, non coding transcript variant
rs121908665	C>T	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908666	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained, non coding transcript variant
rs121908667	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs121908668	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908669	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908670	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908671	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908672	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908673	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908674	C>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs140977837	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs141178995	C>G,T	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs141889567	T>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs145226802	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs145362529	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs147637431	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs148550774	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs148603249	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs149645175	C>G,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs150859573	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs200389686	T>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs202067798	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, upstream transcript variant
rs373910016	G>A	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs397514663	C>T	Pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs397514664	C>T	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs397514665	C>T	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs544861971	G>A	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs724159826	G>A,C	Pathogenic, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs724159827	G>A,T	Pathogenic, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 3 prime UTR variant
rs749683290	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant, genic upstream transcript variant
rs761919591	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs765402802	C>G,T	Pathogenic	Missense variant, genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs766589610	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs766988509	G>A	Likely-pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs768615287	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs770383372	G>C,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs776920568	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886040977	A>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886043590	->T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057519126	C>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057519127	C>G,T	Likely-benign, likely-pathogenic	Upstream transcript variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1057519574	G>T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1057519575	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1085307078	A>G	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1244761864	TATG>-	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs1308485193	T>C,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1326459816	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs1554967141	G>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554967176	G>A	Pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1554971069	->AC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554971145	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554977547	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1555072861	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1555075567	A>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs1555077255	->A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1565083843	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs1565092365	G>A	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1565347300	TG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, splice donor variant, genic upstream transcript variant

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018508	hsa-miR-335-5p	Microarray	18185580
MIRT731783	hsa-miR-23a-3p	Luciferase reporter assayqRT-PCRWestern blot	26774446
MIRT731783	hsa-miR-23a-3p	Luciferase reporter assayqRT-PCRWestern blot	26774446
MIRT732084	hsa-miR-375	Luciferase reporter assay	28158288
MIRT732084	hsa-miR-375	Luciferase reporter assay	28158288
MIRT732084	hsa-miR-375	Luciferase reporter assay	28158288

Show/Hide all (3)

Transcription factor	Regulation	Reference
KLF15	Activation	20141633
RUNX2	Unknown	21542013
SP1	Activation	20141633

Show/Hide all (89)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001702	Process	Gastrulation with mouth forming second	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IMP	17680723
GO:0002076	Process	Osteoblast development	IEA
GO:0005515	Function	Protein binding	IPI	11336703, 11433302, 15908424, 18762581, 20393562, 21471202, 28514442, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	IDA	17680723
GO:0005886	Component	Plasma membrane	TAS
GO:0006007	Process	Glucose catabolic process	IMP	19673927
GO:0006865	Process	Amino acid transport	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0008078	Process	Mesodermal cell migration	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008217	Process	Regulation of blood pressure	IMP	18721193
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	9790987
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009888	Process	Tissue development	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010467	Process	Gene expression	IEA
GO:0015026	Function	Coreceptor activity	IEA
GO:0015026	Function	Coreceptor activity	IPI	11336703
GO:0015026	Function	Coreceptor activity	NAS	24431302
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0017147	Function	Wnt-protein binding	IEA
GO:0017147	Function	Wnt-protein binding	IPI	11336703
GO:0017147	Function	Wnt-protein binding	ISS
GO:0017147	Function	Wnt-protein binding	TAS	22988876
GO:0019534	Function	Toxin transmembrane transporter activity	IMP	18350154
GO:0033687	Process	Osteoblast proliferation	IEA
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035426	Process	Extracellular matrix-cell signaling	IEA
GO:0042074	Process	Cell migration involved in gastrulation	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	18721193, 20146170
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042813	Function	Wnt receptor activity	IDA	24706814, 25920554
GO:0042813	Function	Wnt receptor activity	IEA
GO:0042813	Function	Wnt receptor activity	ISS
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043235	Component	Receptor complex	IDA	18762581
GO:0043434	Process	Response to peptide hormone	IEA
GO:0044281	Process	Small molecule metabolic process	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	IMP	17680723
GO:0045667	Process	Regulation of osteoblast differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	17680723
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	ISS
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	9790987
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17955262
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12857724, 15035989
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046849	Process	Bone remodeling	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0048539	Process	Bone marrow development	IMP	17680723
GO:0060033	Process	Anatomical structure regression	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IMP	15346351
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	11029007, 12121999, 12857724, 15908424, 24706814, 25920554
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IGI	11336703, 16805831
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	18044981, 19673927
GO:0060348	Process	Bone development	IEA
GO:0060349	Process	Bone morphogenesis	IMP	19673927, 20146170, 20630166
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IEA
GO:0060603	Process	Mammary gland duct morphogenesis	IEA
GO:0060612	Process	Adipose tissue development	IMP	17680723
GO:0060764	Process	Cell-cell signaling involved in mammary gland development	IEA
GO:0060856	Process	Establishment of blood-brain barrier	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0061298	Process	Retina vasculature development in camera-type eye	IEA
GO:0061299	Process	Retina vasculature morphogenesis in camera-type eye	IEA
GO:0061299	Process	Retina vasculature morphogenesis in camera-type eye	IEA
GO:0061304	Process	Retinal blood vessel morphogenesis	IEA
GO:0061304	Process	Retinal blood vessel morphogenesis	IMP	15024691, 15346351
GO:0065008	Process	Regulation of biological quality	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0110135	Process	Norrin signaling pathway	IDA	15035989, 17955262
GO:0110135	Process	Norrin signaling pathway	IEA
GO:1902262	Process	Apoptotic process involved in blood vessel morphogenesis	IEA
GO:1990851	Component	Wnt-Frizzled-LRP5/6 complex	IEA
GO:1990851	Component	Wnt-Frizzled-LRP5/6 complex	TAS	20093360, 22988876
GO:1990909	Component	Wnt signalosome	NAS	24115276
GO:1990963	Process	Establishment of blood-retinal barrier	IEA

MIM	HGNC	e!Ensembl
603506	6697	ENSG00000162337

O75197

Protein name

Low-density lipoprotein receptor-related protein 5 (LRP-5) (Low-density lipoprotein receptor-related protein 7) (LRP-7)

Protein function

Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:11719191, PubMed:15778503, PubMed:15908424, PubMed:16252235). Activa

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00058	Ldl_recept_b	120 → 160	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	163 → 204	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	207 → 245	Low-density lipoprotein receptor repeat class B	Repeat
PF14670	FXa_inhibition	299 → 336		Domain
PF00058	Ldl_recept_b	385 → 425	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	428 → 468	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	471 → 512	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	515 → 552	Low-density lipoprotein receptor repeat class B	Repeat
PF14670	FXa_inhibition	605 → 640		Domain
PF00058	Ldl_recept_b	687 → 727	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	730 → 770	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	773 → 813	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	816 → 852	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	856 → 896	Low-density lipoprotein receptor repeat class B	Repeat
PF14670	FXa_inhibition	906 → 941		Domain
PF00058	Ldl_recept_b	1124 → 1162	Low-density lipoprotein receptor repeat class B	Repeat
PF00057	Ldl_recept_a	1257 → 1295	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	1296 → 1332	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	1334 → 1370	Low-density lipoprotein receptor domain class A	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with the highest level of expression in the liver and in aorta. {ECO:0000269|PubMed:9790987}.

Sequence

MEAAPPGPPWPLLLLLLLLLALCGCPAPAAASPLLLFANRRDVRLVDAGGVKLESTIVVS
GLEDAAAVDFQFSKGAVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVGK
KLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAG
MDGSTRKIIVDSDIYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHP
FALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQERQPFFHTRCE
EDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTP
DFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDG
IAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMGLMYWTDWGE
NPKIECANLDGQERRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTL
LEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVV
GTNPCADRNGGCSHLCFFTPHATRCGCPIGLELLSDMKTCIVPEAFLVFTSRAAIHRISL
ETNNNDVAIPLTGVKEASALDFDVSNNHIYWTDVSLKTISRAFMNGSSVEHVVEFGLDYP
EGMAVDWMGKNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDPTKGYIYWTEW
GGKPRIVRAFMDGTNCMTLVDKVGRANDLTIDYADQRLYWTDLDTNMIESSNMLGQERVV
IADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQ
DGLNDCMHNNGQCGQLCLAIPGGHRCGCASHYTLDPSSRNCSPPTTFLLFSQKSAISRMI
PDDQHSPDLILPLHGLRNVKAIDYDPLDKFIYWVDGRQNIKRAKDDGTQPFVLTSLSQGQ
NPDRQPHDLSIDIYSRTLFWTCEATNTINVHRLSGEAMGVVLRGDRDKPRAIVVNAERGY
LYFTNMQDRAAKIERAALDGTEREVLFTTGLIRPVALVVDNTLGKLFWVDADLKRIESCD
LSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKRTRIQGRVAHLTG
IHAVEEVSLEEFSAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCGEPPTCS
PDQFACATGEIDCIPGAWRCDGFPECDDQSDEEGCPVCSAAQFPCARGQCVDLRLRCDGE
ADCQDRSDEADCDAICLPNQFRCASGQCVLIKQQCDSFPDCIDGSDELMCEITKPPSDDS
PAHSSAIGPVIGIILSLFVMGGVYFVCQRVVCQRYAGANGPFPHEYVSGTPHVPLNFIAP
GGSQHGPFTGIACGKSMMSSVSLMGGRGGVPLYDRNHVTGASSSSSSSTKATLYPPILNP
PPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCDSDYSASRWKAS
KYYLDLNSDSDPYPPPPTPHSQYLSAEDSCPPSPATERSYFHLFPPPPSPCTDSS

Sequence length

1615

Interactions

View interactions

	KEGG		Reactome
	mTOR signaling pathway Wnt signaling pathway Parathyroid hormone synthesis, secretion and action Alzheimer disease Pathways of neurodegeneration - multiple diseases Pathways in cancer Breast cancer Hepatocellular carcinoma Gastric cancer		Negative regulation of TCF-dependent signaling by WNT ligand antagonists Disassembly of the destruction complex and recruitment of AXIN to the membrane Regulation of FZD by ubiquitination Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling RNF mutants show enhanced WNT signaling and proliferation

520

Show/Hide Causal Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant osteopetrosis 1	Pathogenic; Likely pathogenic	rs121908669, rs121908670, rs121908671, rs121908673	RCV000006659 RCV000006661 RCV000786921 RCV000006665
Autosomal dominant polycystic liver disease	Likely pathogenic	rs2153153124	RCV001844900
Bone mineral density quantitative trait locus 1	Likely pathogenic; Pathogenic	rs1085307078	RCV000490446
Disorder of bone	Pathogenic	rs121908668	RCV006268073
Exudative vitreoretinopathy 1	Likely pathogenic; Pathogenic	rs121908664, rs2496600373, rs765402802, rs2098643283, rs2098660903	RCV002247255 RCV005356479 RCV005252998 RCV001270175 RCV001270176
Exudative vitreoretinopathy 4	Likely pathogenic; Pathogenic	rs1398692057, rs2153178673, rs2098677149, rs2496385032, rs80358322, rs886043590, rs2496470941, rs2496385228, rs2496600373, rs778930556, rs1244761864, rs2098630548, rs761131376, rs201745746	RCV004762156 RCV001542591 RCV002251160 RCV002283826 RCV004795379 RCV000761295 RCV003314262 RCV003314307 RCV005356479 RCV004585214 RCV004788038 RCV001170037 RCV003222284 RCV003222285
Exudative vitreoretinopathy 4, autosomal dominant	Likely pathogenic; Pathogenic	rs80358322, rs80358321, rs80358305	RCV000006667 RCV000006668 RCV000006672
Exudative vitreoretinopathy 4, autosomal recessive	Likely pathogenic; Pathogenic	rs80358312, rs121908674, rs28939709, rs80358307	RCV000006669 RCV000006670 RCV000006671 RCV000006675
Exudative vitreoretinopathy 4, digenic	Pathogenic	rs80358308	RCV000006673
Familial exudative vitreoretinopathy	Likely pathogenic; Pathogenic	rs80358322	RCV000505032
High bone mass	Pathogenic; Likely pathogenic	rs121908668, rs1555075567	RCV000006658 RCV000505670
LRP5-related disorder	Likely pathogenic; Pathogenic	rs1398692057, rs121908661, rs121908664, rs121908670, rs80358308, rs2496815141, rs765695793	RCV004743544 RCV003904811 RCV004742219 RCV004742220 RCV004742221 RCV003402784 RCV003906177
LRP5-related primary osteoporosis	Likely pathogenic	rs2496599704	RCV003994643
Malignant tumor of esophagus	Pathogenic	rs2098643283	RCV005908936
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs1311935185, rs2153110162, rs2153129403, rs771043544, rs2098673217, rs2153140527	RCV002276951 RCV002277797 RCV002277798 RCV002277799 RCV002277804 RCV002277813
Osteoporosis	Likely pathogenic; Pathogenic	rs1200833757	RCV003333160
Osteoporosis with pseudoglioma	Likely pathogenic; Pathogenic	rs2153153067, rs545508982, rs1270099780, rs121908660, rs121908661, rs1554967141, rs121908662, rs121908663, rs80358319, rs121908664, rs121908666, rs121908667, rs1554971145, rs80358322, rs80358305 View all (14 more)	RCV001728176 RCV002052059 RCV002244111 RCV000006646 RCV000006647 RCV000006648 RCV000006649 RCV000006650 RCV000006651 RCV000006652 RCV000006655 RCV000006656 RCV000006657 RCV004821259 RCV000033256 RCV000258126 RCV004786658 RCV003328514 RCV003337841 RCV005356479 RCV000417043 RCV000417056 RCV000033257 RCV000033258 RCV000033259 RCV000033260 RCV000033261 RCV001260286 RCV003313991
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs80358322	RCV005887328
Polycystic liver disease 1	Likely pathogenic; Pathogenic	rs141178995, rs724159826	RCV000149786 RCV000149787
Polycystic liver disease 4 with or without kidney cysts	Likely pathogenic; Pathogenic	rs141178995, rs724159826, rs2496600373	RCV000584769 RCV000584817 RCV005356479
Postmenopausal osteoporosis	Likely pathogenic	rs768615287	RCV000761563
Retinal dystrophy	Likely pathogenic; Pathogenic	rs80358322, rs80358312, rs28939709, rs1244761864, rs765402802, rs1565083843, rs2098614719, rs2098676296, rs2098677212, rs761131376	RCV004814845 RCV004814846 RCV004814847 RCV001073521 RCV001073522 RCV004817914 RCV001073443 RCV001075325 RCV001073627 RCV004814039
Skeletal dysplasia	Likely pathogenic; Pathogenic	rs121908670	RCV005624678
Vitreoretinopathy	Likely pathogenic	rs1565083843	RCV000678474
Worth disease	Likely pathogenic; Pathogenic	rs121908670, rs121908671, rs121908672	RCV000006660 RCV000006663 RCV000006664

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	rs2242339, rs1127291, rs141889567	RCV005924886 RCV005889860 RCV005898552
Adrenocortical carcinoma, hereditary	Benign	rs3736228	RCV005892586
Autosomal dominant polycystic kidney disease	Conflicting classifications of pathogenicity	rs61889560	RCV001844811
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs1127291, rs148550774, rs141889567	RCV005889864 RCV005895465 RCV005898553
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity; Likely benign	rs1127291, rs148550774, rs147671915	RCV005889865 RCV005895466 RCV005898712
Colorectal cancer	Benign	rs1127291, rs3736228	RCV005889866 RCV005892588
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2496720551	RCV004557782
Familial cancer of breast	Benign; Likely benign	rs140955013	RCV005889701
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs599083, rs1127291, rs141889567, rs762288444	RCV005915274 RCV005889868 RCV005898554 RCV005908970
Hepatocellular carcinoma	Benign	rs1127291	RCV005889861
Leber congenital amaurosis	Uncertain significance	rs587783024	RCV000144476
LRP5-related exudative vitreoretinopathy	Uncertain significance	rs780882911	RCV005359932
Lung cancer	Benign; Conflicting classifications of pathogenicity	rs599083, rs1127291, rs141889567	RCV005915276 RCV005889874 RCV005898555
Malignant lymphoma, large B-cell, diffuse	Benign	rs4988322	RCV005892584
Melanoma	Benign	rs1127291	RCV005889873
Microcephaly	Conflicting classifications of pathogenicity	rs180941579, rs141407040	RCV001252844 RCV001252809
Nonpapillary renal cell carcinoma	Benign	rs1127291	RCV005889863
Optic atrophy	Benign; Likely benign	rs72555376	RCV004816253
Polycystic kidney disease, adult type	not provided; Uncertain significance; Conflicting classifications of pathogenicity	rs724159825, rs377144001, rs61889560, rs143396225	RCV000149785 RCV000162088 RCV000162089 RCV000162090
POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS	Uncertain significance	rs724159827	RCV000584765
Sarcoma	Likely benign; Benign	rs141446007, rs11574424, rs140955013, rs1127291, rs147671915	RCV005912796 RCV005923186 RCV005889703 RCV005889867 RCV005898713
See cases	Uncertain significance	rs1209062729	RCV003128531
Severe early-childhood-onset retinal dystrophy	Conflicting classifications of pathogenicity	rs201018263	RCV005626428
Thymoma	Benign	rs11574424, rs2242339, rs1127291, rs4988322	RCV005923188 RCV005924888 RCV005889871 RCV005892585
Thyroid cancer, nonmedullary, 1	Benign	rs1127291	RCV005889872
Uterine carcinosarcoma	Benign	rs599083, rs11574424, rs1127291, rs3736228	RCV005915275 RCV005923187 RCV005889870 RCV005892589
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs765854475, rs140955013, rs1127291, rs141889567, rs576436176	RCV005925710 RCV005889704 RCV005889875 RCV005898556 RCV005908993
Uveal melanoma	Benign	rs2242339, rs3736228	RCV005924887 RCV005892587

Show/Hide Text Mining Associations (125)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Injuries	Associate	25651180
Adenocarcinoma	Associate	30841855
Adrenocortical Carcinoma	Associate	23866946
Ameloblastoma	Associate	37628576
Amelogenesis imperfecta local hypoplastic form	Associate	35537890
Anodontia	Associate	35537890
Aortic Aneurysm Abdominal	Associate	19233690, 23490293
Aortic Aneurysm Abdominal	Inhibit	23490293
Astigmatism	Associate	30747064
Atherosclerosis	Associate	23490293
Atrioventricular Block	Associate	21147715, 21432225
Blindness	Associate	24014470, 34965700
Bone Diseases	Associate	15077203, 15824861, 15940380, 17052975, 17295608, 21600326, 25384351, 26348019, 28283687, 32405501, 34639175, 36421042, 38302983, 39525853
Bone Diseases Developmental	Associate	20336693
Bone Diseases Metabolic	Associate	12015390, 16929062, 17241106, 18349089, 19629617, 23499310, 24584697, 24715757, 24885293, 25384351, 25651180, 27582019, 29963786, 33118644, 33716164 View all (5 more)
Breast Neoplasms	Associate	31575382
Carcinoma Hepatocellular	Associate	31881970
Cardiovascular Diseases	Associate	25651180
Cartilage Diseases	Stimulate	19810105
Celiac Disease	Associate	37222325
Central Nervous System Diseases	Associate	15940380
Chemical and Drug Induced Liver Injury	Associate	24706814, 25920554, 36569862
Chorea Gravidarum	Associate	24014470, 33716164
Chronic Kidney Disease Mineral and Bone Disorder	Associate	18349089, 18455228
Colonic Neoplasms	Associate	31836665
Colorectal Neoplasms	Associate	33065966, 39991761
Colorectal Neoplasms	Stimulate	34997691
Coronary Artery Disease	Associate	28283687
Coronary Disease	Associate	35733105
Craniosynostoses	Associate	15940380
Developmental Disabilities	Associate	15940380
Diabetes Gestational	Associate	36947076
Diabetes Mellitus	Associate	16723389
Diabetes Mellitus Type 1	Associate	30304114
Diabetes Mellitus Type 2	Associate	26083111, 26248735, 28283687, 32405501, 36421042, 36947076
Diabetic Nephropathies	Associate	21876774
Disease	Associate	15824861
Embolism Fat	Associate	25651180
Esophageal Neoplasms	Associate	25499959
Eye Diseases	Associate	37089697
Facial Paralysis	Associate	15940380
Familial Exudative Vitreoretinopathies	Associate	14737064, 15024691, 15346351, 16929062, 20159111, 20159112, 21151595, 21552475, 23077402, 23441120, 24715757, 25711638, 27316669, 28420620, 28575650 View all (12 more)
Femoral Fractures	Associate	25384351, 35052486
Femoral Neck Fractures	Associate	18684085
Fever	Associate	36569862
Fluorosis Dental	Associate	27005479
Focal Cortical Dysplasia	Associate	40055364
Fractures Bone	Associate	16355283, 17241106, 18349089, 18684085, 19571442, 21542013, 29963786, 33101205, 33118644, 39336743, 39525853
Fractures Multiple	Associate	33939331
Fragile X Syndrome	Associate	16355283, 39336743
Glaucoma	Associate	21528003
Glioblastoma	Stimulate	39991761
Glioma	Associate	39991761
Glucose Intolerance	Associate	32405501
Graves Ophthalmopathy	Associate	24014470
Hearing Loss	Associate	15940380
Heart Valve Diseases	Associate	16631011
HEM dysplasia	Associate	21455762, 26348019
Hepatitis C Chronic	Associate	27005479
Hip Fractures	Associate	20926594
Hyperlipidemias	Associate	28283687
Hypertension	Associate	16754270
Hypertrophy	Associate	22513174
Idiopathic Pulmonary Fibrosis	Associate	18478089
Infections	Stimulate	31836665
Inflammation	Inhibit	34288375
Insulin Resistance	Associate	28283687, 30866603
Juvenile osteoporosis	Associate	15824851, 16234968
Leber Congenital Amaurosis	Associate	30416334
Leukemia Biphenotypic Acute	Associate	28263515
Liver Failure	Associate	24706814
MASS syndrome	Associate	11741193, 15077203, 24038240, 24606091, 26348019, 28283687
Megalencephaly	Associate	15940380
Melanoma	Associate	29431745
Metabolic Diseases	Associate	35733105
Metabolic Syndrome	Associate	25651180
Multiple Myeloma	Associate	20846389, 27005479
Muscular Dystrophy Duchenne	Associate	15355556, 15940380, 16355283, 17002564, 17241106, 17295608, 18021006, 18684085
Myopia	Associate	38243264
Myopia Degenerative	Associate	30747064
Nasal Polyps	Inhibit	28059551
Neoplasm Metastasis	Associate	17318900
Neoplasms	Associate	16772034, 29431745, 31881970, 33065966, 33707600, 34997691, 36787106, 39991761
Neoplastic Syndromes Hereditary	Associate	30416334
Nerve Compression Syndromes	Associate	15940380
Neurofibrosarcoma	Associate	33707600
Non alcoholic Fatty Liver Disease	Associate	35733105
Norrie disease	Associate	12015390, 15824851, 35328049, 37089697
Nystagmus Pathologic	Associate	16929062
Obesity	Associate	16723389, 33028190, 35733105
Optic Atrophy	Associate	15940380
Oropharyngeal Neoplasms	Associate	15824861
Osteoarthritis	Associate	15979013
Osteoarthritis Knee	Associate	15979013
Osteochondrodysplasias	Associate	15824861, 23499310
Osteogenesis Imperfecta	Associate	33596325
Osteopetrosis	Associate	27005479
Osteopetrosis autosomal dominant type 1	Associate	16251418, 21600326
Osteoporosis	Associate	12015390, 15355556, 15824851, 17002564, 17052975, 17241106, 18349089, 18455228, 18684085, 19571442, 19629617, 20926594, 21147715, 21542013, 23028809 View all (24 more)
Osteoporosis pseudoglioma syndrome	Associate	12054167, 12841014, 15077203, 15201508, 18602879, 21407258, 21997141, 23499310, 25384351, 28891484, 33118644, 34965700
Osteoporotic Fractures	Associate	15355556, 18455228, 18684085, 20926594, 32405501
Osteosarcoma	Associate	17318900
Osteosclerosis	Associate	15940380, 23318847
Parkinsonian Disorders	Associate	15824851
Polycystic Kidney Autosomal Dominant	Associate	25920554, 30135240
Polycystic liver disease	Associate	24706814, 25920554, 27259053, 27552964, 29243290, 30135240
Polycystic Ovary Syndrome	Associate	17953969
Primary Myelofibrosis	Associate	27005479
Prostatitis	Associate	35422809
Pulmonary Disease Chronic Obstructive	Associate	23490293
Radiculopathy	Associate	35537890
Raine syndrome	Associate	23318847
Retinal Detachment	Associate	28867931
Retinal Diseases	Associate	21528003
Retinal Dystrophies	Associate	30416334
Retinitis	Associate	31077665
Retinopathy of Prematurity	Associate	23441120
Spinal Stenosis	Associate	28983962
Spondylocostal dysostosis autosomal recessive	Associate	18349089, 20926594, 28222408, 33118644
Stomach Neoplasms	Associate	36549764
Synovitis	Associate	16631011
Torus Palatinus and Torus Mandibularis	Associate	12015390, 15940380, 17295608
Travel Related Illness	Associate	37277619
Tuberculosis Pulmonary	Associate	36569862
Worth syndrome	Associate	15940380

LRP5 (LDL receptor related protein 5)