full name
LDL receptor related protein 2

synonyms
DBS, GP330, LRP2, ENSG00000081479

HGNC
HGNC:6694

Entrez Gene
Gene:4036

ENSEMBL
ENSG00000081479

location
chr: 2
start: 169983619
stop: 170219123
strand: -

OMIM
OMIM:600073: LRP2 (Autosomal recessive inheritance)
OMIM:222448: Donnai-Barrow syndrome

transcripts
NM_004525.2

pathways
Cargo recognition for clathrin-mediated endocytosis [NCBI:1427859] [REACTOME:R-HSA-8856825] [PUBMED:24186068] [PUBMED:12952941] [PUBMED:19696796] [PUBMED:14985334] [PUBMED:20448150] [PUBMED:20485680] [PUBMED:16382132] [PUBMED:23482940] [PUBMED:16870701]
Clathrin-mediated endocytosis [NCBI:1427858] [REACTOME:R-HSA-8856828] [PUBMED:16516836] [PUBMED:15339664] [PUBMED:19754444] [PUBMED:8552632] [PUBMED:21779028] [PUBMED:12353027] [PUBMED:23891661] [PUBMED:21613550] [PUBMED:20059951] [PUBMED:21447041] [PUBMED:17620409] [PUBMED:16903783] [PUBMED:21445324] [PUBMED:19696798] [PUBMED:26246598] [PUBMED:25085911] [PUBMED:24186068] [PUBMED:26829388] [PUBMED:27092250] [PUBMED:24581490] [PUBMED:26042225] [PUBMED:23823722] [PUBMED:24789820] [PUBMED:9736607] [PUBMED:23637288] [PUBMED:22233676] [PUBMED:19458185] [PUBMED:26403691] [PUBMED:19296720] [PUBMED:15703209] [PUBMED:20428113] [PUBMED:8953040] [PUBMED:1177317] [PUBMED:9092476] [PUBMED:26872272] [PUBMED:19092055]
Hedgehog signaling pathway [NCBI:83063] [KEGG:hsa04340] [PUBMED:22534646] [PUBMED:26077918] [PUBMED:24925320] [PUBMED:23719536] [PUBMED:26064136] [PUBMED:26366162] [PUBMED:20708941] [PUBMED:22056910] [PUBMED:18583599] [PUBMED:23799571] [PUBMED:26875496]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of fat-soluble vitamins [NCBI:1339147] [REACTOME:R-HSA-6806667] [PUBMED:22516726] [PUBMED:15951480] [PUBMED:16011460]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Retinoid metabolism and transport [NCBI:1269624] [REACTOME:R-HSA-975634] [PUBMED:16011460] [PUBMED:11340090]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling events mediated by the Hedgehog family [NCBI:137950] [Pathway Interaction Database:hedgehog_2pathway] [PUBMED:8906794] [PUBMED:16647303] [PUBMED:12917290] [PUBMED:12192414] [PUBMED:12421714] [PUBMED:7891723] [PUBMED:16136078] [PUBMED:10984056] [PUBMED:16229832] [PUBMED:15019948] [PUBMED:11934857] [PUBMED:11572986] [PUBMED:16537363] [PUBMED:16647304] [PUBMED:9811851] [PUBMED:11668681] [PUBMED:9593755] [PUBMED:15618519] [PUBMED:16895439] [PUBMED:12123571] [PUBMED:10050855] [PUBMED:11517919] [PUBMED:12372301] [PUBMED:16284117] [PUBMED:10465785] [PUBMED:11964399] [PUBMED:11027307] [PUBMED:8824192] [PUBMED:11486055]
Thyroid hormone synthesis [NCBI:835410] [KEGG:hsa04918] [PUBMED:21448409] [PUBMED:9086577] [PUBMED:21986207] [PUBMED:11137035] [PUBMED:17666482] [PUBMED:20407074] [PUBMED:20093166] [PUBMED:20122987] [PUBMED:15611820] [PUBMED:20378719] [PUBMED:23438835] [PUBMED:11717564] [PUBMED:16870170] [PUBMED:19196800] [PUBMED:9538302] [PUBMED:11029276] [PUBMED:20167242] [PUBMED:10893432] [PUBMED:21683758]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]
Visual phototransduction [NCBI:1269623] [REACTOME:R-HSA-2187338] [PUBMED:15384919] [PUBMED:22074928] [PUBMED:20188572] [PUBMED:21111842] [PUBMED:16688755] [PUBMED:8382952] [PUBMED:22658984] [PUBMED:20430952] [PUBMED:21350678] [PUBMED:22074927] [PUBMED:16011460] [PUBMED:11340090]
Vitamin D (calciferol) metabolism [NCBI:1270052] [REACTOME:R-HSA-196791] [PUBMED:15951480]