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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4036
Gene name	LDL receptor related protein 2
Gene symbol	LRP2
Synonyms (NCBI Gene)	DBSGP330LRP-2
Chromosome	2
Chromosome location	2q31.1
Summary	The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycopr

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35942532	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338743	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs80338744	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs80338745	A>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs80338747	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80338748	C>T	Pathogenic	Splice donor variant
rs80338749	TAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338750	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338751	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338752	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs80338753	AACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338754	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs111733491	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs138269726	C>T	Pathogenic	Coding sequence variant, missense variant
rs140272085	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs140918583	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142245618	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144284604	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs144322413	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144451000	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs147058423	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150752263	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202057289	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs587776717	C>T	Pathogenic	Splice acceptor variant
rs746752313	C>T	Pathogenic	Splice donor variant
rs759025536	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs760114690	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs772158739	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs786205122	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520861	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064796497	T>C	Likely-pathogenic	Splice acceptor variant
rs1064796610	C>A	Likely-pathogenic	Splice acceptor variant
rs1358532875	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1553504456	A>-	Pathogenic	Stop gained, coding sequence variant
rs1559043276	A>C	Pathogenic	Stop gained, coding sequence variant
rs1574121486	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1574132879	->C	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT048169	hsa-miR-196a-5p	CLASH	23622248
MIRT1117932	hsa-miR-1197	CLIP-seq
MIRT1117933	hsa-miR-1286	CLIP-seq
MIRT1117934	hsa-miR-1298	CLIP-seq
MIRT1117935	hsa-miR-190	CLIP-seq
MIRT1117936	hsa-miR-190b	CLIP-seq
MIRT1117937	hsa-miR-204	CLIP-seq
MIRT1117938	hsa-miR-2054	CLIP-seq
MIRT1117939	hsa-miR-211	CLIP-seq
MIRT1117940	hsa-miR-302a	CLIP-seq
MIRT1117941	hsa-miR-302b	CLIP-seq
MIRT1117942	hsa-miR-302c	CLIP-seq
MIRT1117943	hsa-miR-302d	CLIP-seq
MIRT1117944	hsa-miR-302e	CLIP-seq
MIRT1117945	hsa-miR-372	CLIP-seq
MIRT1117946	hsa-miR-373	CLIP-seq
MIRT1117947	hsa-miR-380	CLIP-seq
MIRT1117948	hsa-miR-4436a	CLIP-seq
MIRT1117949	hsa-miR-4446-5p	CLIP-seq
MIRT1117950	hsa-miR-4722-5p	CLIP-seq
MIRT1117951	hsa-miR-4755-5p	CLIP-seq
MIRT1117952	hsa-miR-4790-3p	CLIP-seq
MIRT1117953	hsa-miR-519a	CLIP-seq
MIRT1117954	hsa-miR-519b-3p	CLIP-seq
MIRT1117955	hsa-miR-519c-3p	CLIP-seq
MIRT1117956	hsa-miR-520a-3p	CLIP-seq
MIRT1117957	hsa-miR-520b	CLIP-seq
MIRT1117958	hsa-miR-520c-3p	CLIP-seq
MIRT1117959	hsa-miR-520d-3p	CLIP-seq
MIRT1117960	hsa-miR-520e	CLIP-seq
MIRT1117961	hsa-miR-623	CLIP-seq
MIRT1117962	hsa-miR-664	CLIP-seq
MIRT1550921	hsa-miR-3614-5p	CLIP-seq
MIRT2263694	hsa-miR-1225-3p	CLIP-seq
MIRT2263695	hsa-miR-1233	CLIP-seq
MIRT2263696	hsa-miR-1238	CLIP-seq
MIRT1117934	hsa-miR-1298	CLIP-seq
MIRT2263697	hsa-miR-130a	CLIP-seq
MIRT2263698	hsa-miR-130b	CLIP-seq
MIRT2263699	hsa-miR-1324	CLIP-seq
MIRT2263700	hsa-miR-148a	CLIP-seq
MIRT2263701	hsa-miR-148b	CLIP-seq
MIRT2263702	hsa-miR-152	CLIP-seq
MIRT1117935	hsa-miR-190	CLIP-seq
MIRT1117936	hsa-miR-190b	CLIP-seq
MIRT2263703	hsa-miR-19a	CLIP-seq
MIRT2263704	hsa-miR-19b	CLIP-seq
MIRT2263705	hsa-miR-214	CLIP-seq
MIRT2263706	hsa-miR-301a	CLIP-seq
MIRT2263707	hsa-miR-301b	CLIP-seq
MIRT2263708	hsa-miR-3167	CLIP-seq
MIRT1550921	hsa-miR-3614-5p	CLIP-seq
MIRT2263709	hsa-miR-3619-5p	CLIP-seq
MIRT2263710	hsa-miR-3664-3p	CLIP-seq
MIRT2263711	hsa-miR-3666	CLIP-seq
MIRT2263712	hsa-miR-3689a-3p	CLIP-seq
MIRT2263713	hsa-miR-3689c	CLIP-seq
MIRT2263714	hsa-miR-376a	CLIP-seq
MIRT2263715	hsa-miR-376b	CLIP-seq
MIRT2263716	hsa-miR-3929	CLIP-seq
MIRT2263717	hsa-miR-4276	CLIP-seq
MIRT2263718	hsa-miR-4289	CLIP-seq
MIRT2263719	hsa-miR-4291	CLIP-seq
MIRT2263720	hsa-miR-4295	CLIP-seq
MIRT2263721	hsa-miR-4419b	CLIP-seq
MIRT2263722	hsa-miR-4433	CLIP-seq
MIRT2263723	hsa-miR-4459	CLIP-seq
MIRT2263724	hsa-miR-4478	CLIP-seq
MIRT2263725	hsa-miR-454	CLIP-seq
MIRT2263726	hsa-miR-4695-5p	CLIP-seq
MIRT2263727	hsa-miR-4724-3p	CLIP-seq
MIRT2263728	hsa-miR-4728-5p	CLIP-seq
MIRT2263729	hsa-miR-4768-3p	CLIP-seq
MIRT2263730	hsa-miR-485-5p	CLIP-seq
MIRT2263731	hsa-miR-510	CLIP-seq
MIRT2263732	hsa-miR-518a-5p	CLIP-seq
MIRT2263733	hsa-miR-527	CLIP-seq
MIRT2263734	hsa-miR-549	CLIP-seq
MIRT2263735	hsa-miR-556-3p	CLIP-seq
MIRT1117962	hsa-miR-664	CLIP-seq
MIRT2263736	hsa-miR-761	CLIP-seq
MIRT2263737	hsa-miR-876-5p	CLIP-seq
MIRT2263738	hsa-miR-922	CLIP-seq
MIRT2563037	hsa-miR-3675-3p	CLIP-seq
MIRT2563038	hsa-miR-4432	CLIP-seq
MIRT2563039	hsa-miR-451b	CLIP-seq
MIRT2563040	hsa-miR-4696	CLIP-seq
MIRT1117934	hsa-miR-1298	CLIP-seq
MIRT1117962	hsa-miR-664	CLIP-seq

116

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001822	Process	Kidney development	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0003139	Process	Secondary heart field specification	IEA
GO:0003139	Process	Secondary heart field specification	ISS
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	ISS
GO:0003281	Process	Ventricular septum development	IEA
GO:0005041	Function	Low-density lipoprotein particle receptor activity	IEA
GO:0005041	Function	Low-density lipoprotein particle receptor activity	TAS
GO:0005509	Function	Calcium ion binding	IDA	23275343
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9773776, 23825075, 28514442, 33961781
GO:0005764	Component	Lysosome	TAS	7768901
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005903	Component	Brush border	IEA
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006629	Process	Lipid metabolic process	TAS	7768901
GO:0006897	Process	Endocytosis	IEA
GO:0006897	Process	Endocytosis	TAS	7768901
GO:0006898	Process	Receptor-mediated endocytosis	IBA
GO:0006898	Process	Receptor-mediated endocytosis	IDA	23825075
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	ISS	9228033
GO:0006898	Process	Receptor-mediated endocytosis	TAS	7768901
GO:0007399	Process	Nervous system development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0008283	Process	Cell population proliferation	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	ISS
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	ISS
GO:0010467	Process	Gene expression	IEA
GO:0015031	Process	Protein transport	IDA	17324488
GO:0015031	Process	Protein transport	IEA
GO:0015889	Process	Cobalamin transport	TAS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	23825075
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0017124	Function	SH3 domain binding	IEA
GO:0030001	Process	Metal ion transport	IDA	15126248
GO:0030001	Process	Metal ion transport	IEA
GO:0030139	Component	Endocytic vesicle	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	ISS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0030900	Process	Forebrain development	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0031904	Component	Endosome lumen	IEA
GO:0031994	Function	Insulin-like growth factor I binding	ISS
GO:0034311	Process	Diol metabolic process	IEA
GO:0035904	Process	Aorta development	IEA
GO:0038024	Function	Cargo receptor activity	EXP	8710919, 14528014
GO:0038024	Function	Cargo receptor activity	TAS
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0042562	Function	Hormone binding	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IGI	27241555
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043235	Component	Receptor complex	IEA
GO:0043235	Component	Receptor complex	ISS
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	27241555
GO:0044321	Process	Response to leptin	IDA	17324488
GO:0044321	Process	Response to leptin	IEA
GO:0045056	Process	Transcytosis	ISS
GO:0045177	Component	Apical part of cell	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0050769	Process	Positive regulation of neurogenesis	ISS
GO:0051087	Function	Protein-folding chaperone binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	9228033
GO:0051087	Function	Protein-folding chaperone binding	ISS	9228033
GO:0051180	Process	Vitamin transport	IEA
GO:0060068	Process	Vagina development	IEA
GO:0060068	Process	Vagina development	ISS
GO:0060976	Process	Coronary vasculature development	IEA
GO:0060982	Process	Coronary artery morphogenesis	IEA
GO:0060982	Process	Coronary artery morphogenesis	ISS
GO:0061156	Process	Pulmonary artery morphogenesis	IEA
GO:0061156	Process	Pulmonary artery morphogenesis	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070447	Process	Positive regulation of oligodendrocyte progenitor proliferation	IEA
GO:0070447	Process	Positive regulation of oligodendrocyte progenitor proliferation	ISS
GO:0071363	Process	Cellular response to growth factor stimulus	ISS
GO:0097242	Process	Amyloid-beta clearance	ISS
GO:0140058	Process	Neuron projection arborization	IEA
GO:0140058	Process	Neuron projection arborization	ISS
GO:0140318	Function	Protein transporter activity	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1904447	Process	Folate import across plasma membrane	IEA
GO:1904447	Process	Folate import across plasma membrane	ISS
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1905167	Process	Positive regulation of lysosomal protein catabolic process	ISS	9228033

MIM	HGNC	e!Ensembl
600073	6694	ENSG00000081479

P98164

Protein name

Low-density lipoprotein receptor-related protein 2 (LRP-2) (Glycoprotein 330) (gp330) (Megalin)

Protein function

Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B

PDB

2M0P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00057	Ldl_recept_a	26 → 62	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	65 → 103	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	106 → 142	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	181 → 217	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	220 → 256	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	264 → 301	Low-density lipoprotein receptor domain class A	Repeat
PF00058	Ldl_recept_b	479 → 519	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	522 → 566	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	838 → 879	Low-density lipoprotein receptor repeat class B	Repeat
PF00057	Ldl_recept_a	1024 → 1060	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	1065 → 1101	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	1107 → 1143	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	1147 → 1183	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	1185 → 1222	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	1228 → 1266	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	1269 → 1305	Low-density lipoprotein receptor domain class A	Repeat
PF07645	EGF_CA	1390 → 1428	Calcium-binding EGF domain	Domain
PF00058	Ldl_recept_b	1521 → 1561	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1566 → 1607	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1883 → 1928	Low-density lipoprotein receptor repeat class B	Repeat
PF14670	FXa_inhibition	2022 → 2058		Domain
PF00058	Ldl_recept_b	2202 → 2243	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	2519 → 2560	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	2563 → 2601	Low-density lipoprotein receptor repeat class B	Repeat
PF00057	Ldl_recept_a	2698 → 2736	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	2739 → 2775	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	2778 → 2817	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	2820 → 2859	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	2862 → 2899	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	2904 → 2943	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	2946 → 2988	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	2991 → 3027	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3030 → 3068	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3073 → 3109	Low-density lipoprotein receptor domain class A	Repeat
PF12662	cEGF	3132 → 3155	Complement Clr-like EGF-like	Domain
PF00058	Ldl_recept_b	3282 → 3330	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	3333 → 3374	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	3377 → 3417	Low-density lipoprotein receptor repeat class B	Repeat
PF00057	Ldl_recept_a	3510 → 3548	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3551 → 3589	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3592 → 3630	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3633 → 3671	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3676 → 3714	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3717 → 3754	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3757 → 3793	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3796 → 3832	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3840 → 3878	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3881 → 3920	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	3926 → 3962	Low-density lipoprotein receptor domain class A	Repeat
PF07645	EGF_CA	4007 → 4047	Calcium-binding EGF domain	Domain
PF00058	Ldl_recept_b	4154 → 4194	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	4197 → 4238	Low-density lipoprotein receptor repeat class B	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in first and third trimester cytotrophoblasts in the placenta (at protein level) (PubMed:27798286). Absorptive epithelia, including renal proximal tubules. {ECO:0000269|PubMed:27798286}.

Sequence

MDRGPAAVACTLLLALVACLAPASGQECDSAHFRCGSGHCIPADWRCDGTKDCSDDADEI
GCAVVTCQQGYFKCQSEGQCIPNSWVCDQDQDCDDGSDERQDCSQSTCSSHQITCSNGQC
IPSEYRCDHVRDCPDGADENDCQYPTCEQLTCDNGACYNTSQKCDWKVDCRDSSDEINCT
EICLHNEFSCGNGECIPRAYVCDHDNDCQDGSDEHACNYPTCGGYQFTCPSGRCIYQNWV
CDGEDDCKDNGDEDGCESGPHDVHKCSPREWSCPESGRCISIYKVCDGILDCPGREDENN
TSTGKYCSMTLCSALNCQYQCHETPYGGACFCPPGYIINHNDSRTCVEFDDCQIWGICDQ
KCESRPGRHLCHCEEGYILERGQYCKANDSFGEASIIFSNGRDLLIGDIHGRSFRILVES
QNRGVAVGVAFHYHLQRVFWTDTVQNKVFSVDINGLNIQEVLNVSVETPENLAVDWVNNK
IYLVETKVNRIDMVNLDGSYRVTLITENLGHPRGIAVDPTVGYLFFSDWESLSGEPKLER
AFMDGSNRKDLVKTKLGWPAGVTLDMISKRVYWVDSRFDYIETVTYDGIQRKTVVHGGSL
IPHPFGVSLFEGQVFFTDWTKMAVLKANKFTETNPQVYYQASLRPYGVTVYHSLRQPYAT
NPCKDNNGGCEQVCVLSHRTDNDGLGFRCKCTFGFQLDTDERHCIAVQNFLIFSSQVAIR
GIPFTLSTQEDVMVPVSGNPSFFVGIDFDAQDSTIFFSDMSKHMIFKQKIDGTGREILAA
NRVENVESLAFDWISKNLYWTDSHYKSISVMRLADKTRRTVVQYLNNPRSVVVHPFAGYL
FFTDWFRPAKIMRAWSDGSHLLPVINTTLGWPNGLAIDWAASRLYWVDAYFDKIEHSTFD
GLDRRRLGHIEQMTHPFGLAIFGEHLFFTDWRLGAIIRVRKADGGEMTVIRSGIAYILHL
KSYDVNIQTGSNACNQPTHPNGDCSHFCFPVPNFQRVCGCPYGMRLASNHLTCEGDPTNE
PPTEQCGLFSFPCKNGRCVPNYYLCDGVDDCHDNSDEQLCGTLNNTCSSSAFTCGHGECI
PAHWRCDKRNDCVDGSDEHNCPTHAPASCLDTQYTCDNHQCISKNWVCDTDNDCGDGSDE
KNCNSTETCQPSQFNCPNHRCIDLSFVCDGDKDCVDGSDEVGCVLNCTASQFKCASGDKC
IGVTNRCDGVFDCSDNSDEAGCPTRPPGMCHSDEFQCQEDGICIPNFWECDGHPDCLYGS
DEHNACVPKTCPSSYFHCDNGNCIHRAWLCDRDNDCGDMSDEKDCPTQPFRCPSWQWQCL
GHNICVNLSVVCDGIFDCPNGTDESPLCNGNSCSDFNGGCTHECVQEPFGAKCLCPLGFL
LANDSKTCEDIDECDILGSCSQHCYNMRGSFRCSCDTGYMLESDGRTCKVTASESLLLLV
ASQNKIIADSVTSQVHNIYSLVENGSYIVAVDFDSISGRIFWSDATQGKTWSAFQNGTDR
RVVFDSSIILTETIAIDWVGRNLYWTDYALETIEVSKIDGSHRTVLISKNLTNPRGLALD
PRMNEHLLFWSDWGHHPRIERASMDGSMRTVIVQDKIFWPCGLTIDYPNRLLYFMDSYLD
YMDFCDYNGHHRRQVIASDLIIRHPYALTLFEDSVYWTDRATRRVMRANKWHGGNQSVVM
YNIQWPLGIVAVHPSKQPNSVNPCAFSRCSHLCLLSSQGPHFYSCVCPSGWSLSPDLLNC
LRDDQPFLITVRQHIIFGISLNPEVKSNDAMVPIAGIQNGLDVEFDDAEQYIYWVENPGE
IHRVKTDGTNRTVFASISMVGPSMNLALDWISRNLYSTNPRTQSIEVLTLHGDIRYRKTL
IANDGTALGVGFPIGITVDPARGKLYWSDQGTDSGVPAKIASANMDGTSVKTLFTGNLEH
LECVTLDIEEQKLYWAVTGRGVIERGNVDGTDRMILVHQLSHPWGIAVHDSFLYYTDEQY
EVIERVDKATGANKIVLRDNVPNLRGLQVYHRRNAAESSNGCSNNMNACQQICLPVPGGL
FSCACATGFKLNPDNRSCSPYNSFIVVSMLSAIRGFSLELSDHSETMVPVAGQGRNALHV
DVDVSSGFIYWCDFSSSVASDNAIRRIKPDGSSLMNIVTHGIGENGVRGIAVDWVAGNLY
FTNAFVSETLIEVLRINTTYRRVLLKVTVDMPRHIVVDPKNRYLFWADYGQRPKIERSFL
DCTNRTVLVSEGIVTPRGLAVDRSDGYVYWVDDSLDIIARIRINGENSEVIRYGSRYPTP
YGITVFENSIIWVDRNLKKIFQASKEPENTEPPTVIRDNINWLRDVTIFDKQVQPRSPAE
VNNNPCLENNGGCSHLCFALPGLHTPKCDCAFGTLQSDGKNCAISTENFLIFALSNSLRS
LHLDPENHSPPFQTINVERTVMSLDYDSVSDRIYFTQNLASGVGQISYATLSSGIHTPTV
IASGIGTADGIAFDWITRRIYYSDYLNQMINSMAEDGSNRTVIARVPKPRAIVLDPCQGY
LYWADWDTHAKIERATLGGNFRVPIVNSSLVMPSGLTLDYEEDLLYWVDASLQRIERSTL
TGVDREVIVNAAVHAFGLTLYGQYIYWTDLYTQRIYRANKYDGSGQIAMTTNLLSQPRGI
NTVVKNQKQQCNNPCEQFNGGCSHICAPGPNGAECQCPHEGNWYLANNRKHCIVDNGERC
GASSFTCSNGRCISEEWKCDNDNDCGDGSDEMESVCALHTCSPTAFTCANGRCVQYSYRC
DYYNDCGDGSDEAGCLFRDCNATTEFMCNNRRCIPREFICNGVDNCHDNNTSDEKNCPDR
TCQSGYTKCHNSNICIPRVYLCDGDNDCGDNSDENPTYCTTHTCSSSEFQCASGRCIPQH
WYCDQETDCFDASDEPASCGHSERTCLADEFKCDGGRCIPSEWICDGDNDCGDMSDEDKR
HQCQNQNCSDSEFLCVNDRPPDRRCIPQSWVCDGDVDCTDGYDENQNCTRRTCSENEFTC
GYGLCIPKIFRCDRHNDCGDYSDERGCLYQTCQQNQFTCQNGRCISKTFVCDEDNDCGDG
SDELMHLCHTPEPTCPPHEFKCDNGRCIEMMKLCNHLDDCLDNSDEKGCGINECHDPSIS
GCDHNCTDTLTSFYCSCRPGYKLMSDKRTCVDIDECTEMPFVCSQKCENVIGSYICKCAP
GYLREPDGKTCRQNSNIEPYLIFSNRYYLRNLTIDGYFYSLILEGLDNVVALDFDRVEKR
LYWIDTQRQVIERMFLNKTNKETIINHRLPAAESLAVDWVSRKLYWLDARLDGLFVSDLN
GGHRRMLAQHCVDANNTFCFDNPRGLALHPQYGYLYWADWGHRAYIGRVGMDGTNKSVII
STKLEWPNGITIDYTNDLLYWADAHLGYIEYSDLEGHHRHTVYDGALPHPFAITIFEDTI
YWTDWNTRTVEKGNKYDGSNRQTLVNTTHRPFDIHVYHPYRQPIVSNPCGTNNGGCSHLC
LIKPGGKGFTCECPDDFRTLQLSGSTYCMPMCSSTQFLCANNEKCIPIWWKCDGQKDCSD
GSDELALCPQRFCRLGQFQCSDGNCTSPQTLCNAHQNCPDGSDEDRLLCENHHCDSNEWQ
CANKRCIPESWQCDTFNDCEDNSDEDSSHCASRTCRPGQFRCANGRCIPQAWKCDVDNDC
GDHSDEPIEECMSSAHLCDNFTEFSCKTNYRCIPKWAVCNGVDDCRDNSDEQGCEERTCH
PVGDFRCKNHHCIPLRWQCDGQNDCGDNSDEENCAPRECTESEFRCVNQQCIPSRWICDH
YNDCGDNSDERDCEMRTCHPEYFQCTSGHCVHSELKCDGSADCLDASDEADCPTRFPDGA
YCQATMFECKNHVCIPPYWKCDGDDDCGDGSDEELHLCLDVPCNSPNRFRCDNNRCIYSH
EVCNGVDDCGDGTDETEEHCRKPTPKPCTEYEYKCGNGHCIPHDNVCDDADDCGDWSDEL
GCNKGKERTCAENICEQNCTQLNEGGFICSCTAGFETNVFDRTSCLDINECEQFGTCPQH
CRNTKGSYECVCADGFTSMSDRPGKRCAAEGSSPLLLLPDNVRIRKYNLSSERFSEYLQD
EEYIQAVDYDWDPKDIGLSVVYYTVRGEGSRFGAIKRAYIPNFESGRNNLVQEVDLKLKY
VMQPDGIAVDWVGRHIYWSDVKNKRIEVAKLDGRYRKWLISTDLDQPAAIAVNPKLGLMF
WTDWGKEPKIESAWMNGEDRNILVFEDLGWPTGLSIDYLNNDRIYWSDFKEDVIETIKYD
GTDRRVIAKEAMNPYSLDIFEDQLYWISKEKGEVWKQNKFGQGKKEKTLVVNPWLTQVRI
FHQLRYNKSVPNLCKQICSHLCLLRPGGYSCACPQGSSFIEGSTTECDAAIELPINLPPP
CRCMHGGNCYFDETDLPKCKCPSGYTGKYCEMAFSKGISPGTTAVAVLLTILLIVVIGAL
AIAGFFHYRRTGSLLPALPKLPSLSSLVKPSENGNGVTFRSGADLNMDIGVSGFGPETAI
DRSMAMSEDFVMEMGKQPIIFENPMYSARDSAVKVVQPIQVTVSENVDNKNYGSPINPSE
IVPETNPTSPAADGTQVTKWNLFKRKSKQTTNFENPIYAQMENEQKESVAATPPPSPSLP
AKPKPPSRRDPTPTYSATEDTFKDTANLVKEDSEV

Sequence length

4655

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway Thyroid hormone synthesis Cholesterol metabolism		Vitamin D (calciferol) metabolism Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Retinoid metabolism and transport

1326

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Donnai-Barrow syndrome	Likely pathogenic; Pathogenic	rs1236195196, rs2105329431, rs866520787, rs2105467271, rs2105348670, rs753667280, rs372938477, rs768458485, rs2105326044, rs2528491247, rs80338754, rs760114690, rs2545699853, rs80338747, rs80338751 View all (17 more)	RCV001542647 RCV001542648 RCV004555887 RCV001849819 RCV001849820 RCV001849821 RCV002503452 RCV005025532 RCV002052164 RCV002302517 RCV000192936 RCV000490345 RCV003147074 RCV000010058 RCV000010059 RCV000010060 RCV000010061 RCV000010062 RCV000010063 RCV000010064 RCV000010065 RCV005030071 RCV005030110 RCV005014852 RCV005030302 RCV000020603 RCV000020604 RCV000033107 RCV000677416 RCV000767862 RCV000767863 RCV001269295 RCV001290362
Hearing impairment	Likely pathogenic; Pathogenic	rs2545755689, rs2545794648	RCV002291529 RCV002291530
LRP2-related disorder	Likely pathogenic; Pathogenic	rs753549113, rs768458485, rs1310470715	RCV003408014 RCV003408018 RCV004750949
Malignant tumor of urinary bladder	Pathogenic	rs867941074	RCV005934704
Retinal dystrophy	Likely pathogenic	rs111733491	RCV000504761
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs745765868	RCV005935017

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs72880427	RCV005923846
Cervical cancer	Likely benign	rs779851629	RCV005934961
Cholangiocarcinoma	Benign	rs992812829	RCV005918107
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity	rs34564141, rs372927481, rs140586887	RCV005895968 RCV005913830 RCV005909222
Congenital heart disease	Uncertain significance	rs587780382	RCV005365005
DSD incomplete virilization	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs745788682, rs146149181, rs140272085, rs200475391	RCV001849541 RCV001849365 RCV001849407 RCV001849411
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity; Likely benign	rs992812829, rs200691310, rs6744473, rs199584573, rs146289506, rs144723964	RCV005918104 RCV005923275 RCV005925163 RCV005925164 RCV005892321 RCV005892737
Gastric cancer	Benign	rs992812829, rs12991585, rs72880427, rs17848191, rs11898106	RCV005918106 RCV005918502 RCV005923848 RCV005895971 RCV005895973
Hearing loss and Retinal dystrophy	Uncertain significance; Benign; Likely benign	rs143413559, rs114460450	RCV001839412 RCV001839413
Hepatocellular carcinoma	Benign; Uncertain significance	rs16823023, rs201115003	RCV005915943 RCV005913829
High myopia	Conflicting classifications of pathogenicity	rs202057289	RCV000415435
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs150752263, rs150552608, rs190037522, rs148356370, rs143413559, rs138269726, rs140918583, rs143115109, rs199583537, rs142884214, rs761977482, rs1423836845, rs140586887, rs371708810, rs771962414 View all (5 more)	RCV001252555 RCV001252554 RCV001252314 RCV005625554 RCV001252556 RCV005624716 RCV001252552 RCV001252310 RCV001291092 RCV001252315 RCV001252553 RCV001252312 RCV001252313 RCV001252309 RCV001252311 RCV001252316 RCV001252306 RCV001252305 RCV001252307 RCV001252308
Lung cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	rs114533035, rs199584573, rs146289506, rs61995915, rs17848191, rs34564141	RCV005911312 RCV005925165 RCV005892323 RCV005892739 RCV005895972 RCV005895970
Malignant tumor of esophagus	Benign; Likely benign	rs992812829, rs72880427, rs34564141	RCV005918105 RCV005923847 RCV005895967
Non-syndromic syndactyly	Conflicting classifications of pathogenicity	rs771733361	RCV002302838
Nonpapillary renal cell carcinoma	Likely benign	rs563866700	RCV005927824
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs62172612, rs61995915, rs144451000	RCV005920465 RCV005892738 RCV005898132
Prolactin-producing pituitary gland adenoma	Conflicting classifications of pathogenicity	rs202057289	RCV000415435
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs114533035, rs16856796, rs72880427, rs62172612, rs76488092, rs549643355	RCV005911313 RCV005920430 RCV005923849 RCV005920466 RCV005889118 RCV005931674

Show/Hide Text Mining Associations (87)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albuminuria	Associate	19366958
Alcoholism	Associate	24890784
Alzheimer Disease	Associate	24366390, 25024348, 27241555
Arthritis Infectious	Inhibit	18364044
Autism Spectrum Disorder	Associate	22578327
Autistic Disorder	Associate	22578327
Biliary Tract Neoplasms	Associate	37341068
Breast Neoplasms	Associate	18567755
Breast Neoplasms	Inhibit	31120873
Burns	Associate	18364044
Carcinoma Hepatocellular	Associate	24462510, 36965814
Carcinoma Renal Cell	Associate	29088295
Cholelithiasis	Inhibit	31120873
Cognition Disorders	Associate	22170372
Colorectal Neoplasms	Associate	31434255, 35975176
COVID 19	Inhibit	32791255
Cystinosis	Associate	34643468
Deaf Blind Disorders	Associate	29532936
Dementia	Associate	22170372
Dent Disease	Associate	23572577, 29532936
Diabetes Gestational	Stimulate	37654560
Diabetes Mellitus	Associate	19366958
Diabetes Mellitus Type 1	Associate	19366958
Diabetes Mellitus Type 2	Associate	25502002
Diabetic Ketoacidosis	Associate	36330072
Diabetic Nephropathies	Associate	25502002
Diabetic Nephropathies	Inhibit	31120873
Diabetic Retinopathy	Associate	23562823
Donnai Barrow syndrome	Associate	17632512, 18553518, 25822460, 29532936, 32471643
Drug Related Side Effects and Adverse Reactions	Associate	18448595
Dyslipidemias	Associate	24366390
Fanconi Anemia	Associate	31990679
Fanconi Syndrome	Associate	28577559
Fibrosis	Inhibit	31120873
Genetic Diseases Inborn	Associate	18553518
Glomerulonephritis IGA	Associate	25502002, 35661648
Glycosuria Renal	Associate	30147856
Gout	Associate	26147675
Growth Disorders	Associate	32571490
Hypercalciuria	Associate	29532936
Hypercholesterolemia	Associate	18174661
Hypertension	Associate	25189868, 29795187
Hypertension Pregnancy Induced	Associate	35684156
Inflammation	Associate	23562823
Inflammation	Inhibit	34995387
Kidney Cortex Necrosis	Associate	25822460
Kidney Diseases	Associate	32571490
Liver Cirrhosis	Inhibit	31120873
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis	Associate	29532936
Lung Neoplasms	Associate	33219256
Metabolic Syndrome	Associate	25646961, 29795187
Multiple Myeloma	Associate	18448595
Multiple Sclerosis Chronic Progressive	Associate	34678704
Neoplasm Metastasis	Associate	37387515
Neoplasms	Associate	33084977, 33219256, 33432021, 35281032, 36899527, 37387515
Nephrocalcinosis	Associate	29532936
Nephrolithiasis	Associate	29532936
Nephrosis Lipoid	Associate	22170372
Nocturnal Myoclonus Syndrome	Associate	37563071
Nonsyndromic Holoprosencephaly	Associate	34872573
Obesity	Associate	32153512
Obesity Metabolically Benign	Associate	32957486
Otitis Media	Associate	33693626
Ovarian Neoplasms	Associate	33432021
Pancreatic Neoplasms	Associate	23826131, 25799011
Parkinson Disease	Associate	34528139
Polycystic Kidney Autosomal Dominant	Associate	29687770
Prostatic Neoplasms	Associate	18559602
Proteinuria	Associate	23302718, 25822460, 29532936, 30476138
Rectal Diseases	Associate	37387515
Renal Insufficiency Chronic	Associate	29779033, 35661648
Reperfusion Injury	Associate	36253874
Restless Legs Syndrome	Stimulate	37563071
SeSAME syndrome	Associate	14990980
Shwachman Diamond Syndrome	Associate	31990679
Sjogren's Syndrome	Associate	28577559
Skin Abnormalities	Associate	34995387
Skin Diseases	Associate	34995387
Sleep Apnea Obstructive	Associate	38008818
Squamous Intraepithelial Lesions	Associate	33084977
Stomach Neoplasms	Associate	31164161, 36430456
Strabismus	Associate	34872573
Uniparental Disomy	Associate	18553518
Urinary Bladder Neoplasms	Associate	37247272
Uterine Cervical Diseases	Associate	33084977
Uterine Cervical Dysplasia	Associate	33084977
Vitamin D Deficiency	Associate	35684156

LRP2 (LDL receptor related protein 2)