LRP2 - LDL receptor related protein 2 Gene

Also Known as DBS; GP330; LRP-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4036

About LRP2

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:169,127,109-169,362,534 (from NCBI)

This gene has 7 transcripts (splice variants), 216 orthologues, 14 paralogues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 33.6), thyroid (RPKM 14.6) and 1 other tissue.

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 glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein Lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and Hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic Hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]

LRP2 Products (1)

mRNA	Protein	Name
NM_004525.3	NP_004516.2	low-density lipoprotein receptor-related protein 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	23275343	GOA
enables cargo receptor activity	EXP EXP: Inferred from Experiment	8710919	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9773776	GOA
enables protein-folding chaperone binding	IPI IPI: Inferred from physical interaction	9228033	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in metal ion transport	IDA IDA: Inferred from direct assay	15126248	GOA
acts upstream of negative regulation of apoptotic process	IGI IGI: Inferred from genetic interaction	27241555	GOA
involved in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI IGI: Inferred from genetic interaction	27241555	GOA
involved in protein transport	IDA IDA: Inferred from direct assay	17324488	GOA
involved in receptor-mediated endocytosis	IDA IDA: Inferred from direct assay	23825075	GOA
involved in response to leptin	IDA IDA: Inferred from direct assay	17324488	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	23825075	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRP2 Protein Structure

Ldl_recept_a

Ldl_recept_b

Ldl_recept_a

EGF_CA

Ldl_recept_b

FXa_inhibition

Ldl_recept_b

Ldl_recept_a

cEGF

Ldl_recept_b

Ldl_recept_a

EGF_CA

Ldl_recept_b

0
800
1600
2400
3200
4000
4655 a.a.

Protein Preferred Names	Protein Names
low-density lipoprotein receptor-related protein 2	Heymann nephritis antigen homolog

LRP2 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P83131	Lrp2/Megalin Antibody (YA2876)	WB	Human, Mouse, Rat
HY-P83746	Lrp2/Megalin Antibody (YA3473)	WB, IHC-P, IF-Tissue	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Donnai-Barrow Syndrome	Faciooculoacousticorenal Syndrome Dbs/Foar Syndrome Foar Syndrome Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome Facio-Oculo-Acoustico-Renal Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome Holmes-Schepens Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness DBS Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss Donnai Barrow Syndrome
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Cystinosis	Cystine Storage Disease Cystine Diathesis Cystine Disease Cystinoses Protein Defect Of Cystin Transport Cystin Transport, Protein Defect Of Nephropathic Cystinosis Protein Defect Of Cystine Transport
Prolactinoma	Prolactin-Producing Pituitary Gland Adenoma Prolactin-Secreting Pituitary Adenoma Forbes-Albright Syndrome Lactotroph Adenoma Prl-Secreting Pituitary Adenoma Prloma Pituitary Lactotrophic Adenoma Familial Prolactinoma Pituitary Adenoma, Prolactin-Secreting Prolactinoma Of Pituitary Gland PSPA
Membranous Nephropathy	Membranous Glomerulonephritis Glomerulonephritis, Membranous Idiopathic Membranous Nephropathy Idiopathic Membranous Glomerulonephritis MBNP Membranous Nephropathy, Susceptibility To Extramembranous Glomerulonephritis Mgn Membranous Gn Primary Membranous Glomerulonephritis Primary Membranous Nephropathy Nephropathy Membranous
Lowe Oculocerebrorenal Syndrome	Lowe Syndrome Oculocerebrorenal Syndrome OCRL Oculocerebrorenal Syndrome Of Lowe Ocrl1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Lowe Disease Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency Cerebrooculorenal Syndrome Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Lowe Oculo-Cerebro-Renal Dystrophy Lowe Oculo-Cerebro-Renal Syndrome Lowe Oculocerebrorenal Dystrophy Low Chromosome 11p Deletion Syndrome Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Ocrl1 - [Oculocerebrorenal Syndrome] Lowe-Terrey-Maclachlan Syndrome Renal-Oculocerebrodystrophy
Glomerulonephritis	Bright'S Disease
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Ureteral Obstruction
Insulin-Like Growth Factor I	Insulin-Like Growth Factor I Deficiency IGF1 DEFICIENCY Insulin-Like Growth Factor I, Resistance To Growth Retardation With Deafness And Mental Retardation Due To Igf1 Deficiency Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency Growth Delay Due To Insulin-Like Growth Factor I Resistance IGF1RES Igf-I Resistance Somatomedin, End-Organ Insensitivity To Somatomedin-C Somatomedin-C, Resistance To Growth Retardation With Sensorineural Deafness And Mental Retardation Insulin-Like Growth Factor 1 Resistance To Igf-1 Resistance Somatomedin End-Organ Insensitivity To Somatomedin-C Resistance To Growth Restriction With Sensorineural Deafness And Intellectual Disability Growth Delay-Deafness-Intellectual Disability Syndrome Growth Delay-Hearing Loss-Intellectual Disability Syndrome Igf-1 Deficiency Primary Insulin-Like Growth Factor Deficiency Resistance To Igf-1 Insulin-Like Growth Factor 1 Resistance End-Organ Insensitivity To Somatomedin Igf1 Resistance Resistance To Insulin-Like Growth Factor I Resistance To Somatomedin-C Insulin-Like Growth Factor 1, Resistance To
Congenital Intrinsic Factor Deficiency	Hereditary Intrinsic Factor Deficiency Intrinsic Factor Deficiency Congenital Pernicious Anemia Gastric Intrinsic Factor Deficiency Hereditary Juvenile Megaloblastic Anemia Due To Intrinsic Factor Deficiency Ifd Intrinsic Factor Deficiency, Congenital, Susceptibility To Congenital Deficiency Of Intrinsic Factor Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Microphthalmia, Syndromic 12	Microphthalmia With Or Without Pulmonary Hypoplasia, Diaphragmatic Hernia, And/Or Cardiac Defects MCOPS12 Syndromic Microphthalmia 12 Syndromic Microphthalmia-12 Microphthalmia, Syndromic, 12 Microphthalmia, Syndromic, Type 12
Primary Hyperparathyroidism	Familial Primary Hyperparathyroidism Hyperparathyroidism, Primary Hyperparathyroidism Primary Hypocalciuric Hypercalcemia, Familial, Type 1 Familial Benign Hypercalcemia Familial Hyperparathyroidism Parathyroid Enlargement
Cerebral Lymphoma	Primary Cerebral Lymphoma Brain Primary Lymphoma Primary Lymphoma Of Cerebrum
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Fanconi-Like Syndrome	Fanconi Like Syndrome
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Autosomal Recessive Arh FHCL4 Autosomal Recessive Hypercholesterolemia Arh1 Arh2 Autosomal Recessive Hypercholesterolemia 1 Autosomal Recessive Hypercholesterolemia 2 Fhcb1 Fhcb2 Hypercholesterolemia, Autosomal Recessive, 1, Formerly Arh1, Formerly Fhcb1, Formerly Hypercholesterolemia, Autosomal Recessive, 2, Formerly Arh2, Formerly Fhcb2, Formerly Familial Autosomal Recessive Hypercholesterolemia Hypercholesterolemia, Familial, Autosomal Recessive Hypercholesterolemia, Familial, Type 4
Acute Kidney Tubular Necrosis	Acute Tubular Necrosis Acute Renal Failure With Tubular Necrosis Acute Tubule Necrosis Acute Renal Failure With Lesion Of Tubular Necrosis Atn - Acute Tubular Necrosis Tubular Necrosis Acute Kidney Tubular Necrosis, Acute Acute Renal Tubular Necrosis Acute Tubular Nephrosis Ischaemic Acute Tubular Necrosis Ischaemic Tubular Necrosis Kidney Tubular Necrosis Lower Nephron Nephrosis Necrotising Renal Oedema Renal Tubular Necrosis Toxic Tubular Necrosis Tubular Kidney Necrosis Tubular Necrosis Nos Tubular Nephrosis
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Diaphragm Disease	Abnormality Of The Diaphragm Disease Of Diaphragm Diaphragmatic Disorder Disorder Of Diaphragm
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Glaucoma 3, Primary Congenital, A	Buphthalmos Glaucoma, Congenital Congenital Glaucoma Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset GLC3A Glc3 Buphthalmia Primary Congenital Glaucoma Glaucoma, Primary Open Angle, Juvenile-Onset Simple Buphthalmos Buphthalmus Glaucoma, Primary Open Angle, Adult-Onset Primary Congenital Glaucoma 3a Primary Infantile Glaucoma Type 3a Glaucoma 3a, Primary Congenital Glaucoma, Congenital, Primary, Type 3a Hydrophthalmos Cystic Eyeball
Behcet Syndrome	Behcet Disease Behcet'S Syndrome Behcet'S Disease Behçet Disease Bd Adamantiades-Behcet Disease Triple Symptom Complex Behçet'S Disease Behet'S Syndrome Bd Syndrome Behçet Syndrome Behçet'S Syndrome Behcet Triple Symptom Complex Malignant Aphthosis Old Silk Route Disease Adamantiades-Behçet Disease
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS17962	Lrp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24433	Lrp2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07797	LRP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	LRP2	VGNC	VGNC:30990
Macaca mulatta	LRP2	VGNC	VGNC:81430
Canis familiaris	LRP2	VGNC	VGNC:42775
Mus musculus	LRP2	MGD	MGI:95794
Rattus norvegicus	LRP2	RGD	RGD:68407
Felis catus	LRP2	VGNC	VGNC:80266
Others	LRP2	NCBI