full name
heparan sulfate proteoglycan 2

synonyms
HSPG, PLC, PRCAN, SJA, SJS, SJS1, HSPG2, ENSG00000142798

HGNC
HGNC:5273

Entrez Gene
Gene:3339

ENSEMBL
ENSG00000142798

location
chr: 1
start: 22148737
stop: 22263750
strand: -

OMIM
OMIM:142461: HSPG2 (Autosomal recessive inheritance)
OMIM:224410: Dyssegmental dysplasia, Silverman-Handmaker type
OMIM:255800: Schwartz-Jampel syndrome, type 1

transcripts
NM_005529.5

pathways
A tetrasaccharide linker sequence is required for GAG synthesis [NCBI:1269981] [REACTOME:R-HSA-1971475] [PUBMED:4139221] [PUBMED:17239764]
Amyloid fiber formation [NCBI:1269169] [REACTOME:R-HSA-977225] [PUBMED:16302959]
Chondroitin sulfate/dermatan sulfate metabolism [NCBI:1269984] [REACTOME:R-HSA-1793185] [PUBMED:12512856] [PUBMED:12213784] [PUBMED:17239764]
Chylomicron-mediated lipid transport [NCBI:1270006] [REACTOME:R-HSA-174800]
Defective B3GALT6 causes EDSP2 and SEMDJL1 [NCBI:1309217] [REACTOME:R-HSA-4420332] [PUBMED:23664118] [PUBMED:23664117]
Defective B3GAT3 causes JDSSDHD [NCBI:1269015] [REACTOME:R-HSA-3560801] [PUBMED:1640425] [PUBMED:14779259] [PUBMED:21763480] [PUBMED:4626580]
Defective B4GALT7 causes EDS, progeroid type [NCBI:1269014] [REACTOME:R-HSA-3560783] [PUBMED:10506123]
Defective EXT1 causes exostoses 1, TRPS2 and CHDS [NCBI:1269021] [REACTOME:R-HSA-3656253] [PUBMED:8558565] [PUBMED:6496574] [PUBMED:2783565] [PUBMED:6015756] [PUBMED:7711731] [PUBMED:7726168]
Defective EXT2 causes exostoses 2 [NCBI:1269022] [REACTOME:R-HSA-3656237] [PUBMED:8558565] [PUBMED:2783565]
Degradation of the extracellular matrix [NCBI:1270257] [REACTOME:R-HSA-1474228] [PUBMED:21917992]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases associated with glycosaminoglycan metabolism [NCBI:1269011] [REACTOME:R-HSA-3560782] [PUBMED:23457301]
Diseases of glycosylation [NCBI:1269010] [REACTOME:R-HSA-3781865] [PUBMED:12756558] [PUBMED:22983739] [PUBMED:6543331] [PUBMED:16755287] [PUBMED:12409504] [PUBMED:19765534] [PUBMED:22838182] [PUBMED:2301971] [PUBMED:21384229] [PUBMED:22343051]
ECM-receptor interaction [NCBI:83068] [KEGG:hsa04512] [PUBMED:7698997] [PUBMED:12796473] [PUBMED:15036264] [PUBMED:12736199] [PUBMED:15229478] [PUBMED:10617638] [PUBMED:12845610] [PUBMED:12921709] [PUBMED:15381249] [PUBMED:11331578] [PUBMED:12125070] [PUBMED:11572082]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Glycosaminoglycan metabolism [NCBI:1269972] [REACTOME:R-HSA-1630316] [PUBMED:18201392] [PUBMED:20301236] [PUBMED:820626]
HS-GAG biosynthesis [NCBI:1269982] [REACTOME:R-HSA-2022928] [PUBMED:9251237] [PUBMED:11102866]
HS-GAG degradation [NCBI:1269983] [REACTOME:R-HSA-2024096] [PUBMED:15647514]
Heparan sulfate/heparin (HS-GAG) metabolism [NCBI:1269980] [REACTOME:R-HSA-1638091] [PUBMED:11102866] [PUBMED:19111581] [PUBMED:9251237] [PUBMED:10716625]
Hepatitis B [NCBI:694606] [KEGG:hsa05161] [PUBMED:18931690] [PUBMED:16891440] [PUBMED:19854353] [PUBMED:11325602] [PUBMED:11604508] [PUBMED:17158882] [PUBMED:11099494] [PUBMED:9325306] [PUBMED:11483993] [PUBMED:18024894] [PUBMED:11278872] [PUBMED:21647825] [PUBMED:19784739] [PUBMED:11287574] [PUBMED:18481805] [PUBMED:15107488] [PUBMED:17188775] [PUBMED:19263472] [PUBMED:18605975] [PUBMED:10454581] [PUBMED:22504921] [PUBMED:18046710] [PUBMED:21334391] [PUBMED:20657822] [PUBMED:15132991] [PUBMED:15542625] [PUBMED:9843511] [PUBMED:15173177] [PUBMED:8764004] [PUBMED:21994545] [PUBMED:11821950] [PUBMED:16459163] [PUBMED:9738022] [PUBMED:12839924] [PUBMED:16203685] [PUBMED:21618535] [PUBMED:12771941]
Integrin cell surface interactions [NCBI:1270260] [REACTOME:R-HSA-216083] [PUBMED:15147720] [PUBMED:10215583] [PUBMED:12231361] [PUBMED:8866399] [PUBMED:19273203]
Laminin interactions [NCBI:1270253] [REACTOME:R-HSA-3000157] [PUBMED:23057746]
Lipid digestion, mobilization, and transport [NCBI:1270002] [REACTOME:R-HSA-73923]
Lipoprotein metabolism [NCBI:1270005] [REACTOME:R-HSA-174824]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of carbohydrates [NCBI:1269957] [REACTOME:R-HSA-71387]
Metabolism of fat-soluble vitamins [NCBI:1339147] [REACTOME:R-HSA-6806667] [PUBMED:15951480] [PUBMED:22516726] [PUBMED:16011460]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Non-integrin membrane-ECM interactions [NCBI:1270254] [REACTOME:R-HSA-3000171] [PUBMED:15039999] [PUBMED:20565253]
Proteoglycans in cancer [NCBI:782000] [KEGG:hsa05205] [PUBMED:19433454] [PUBMED:18798267] [PUBMED:20655987] [PUBMED:10633082] [PUBMED:22735579] [PUBMED:9346940] [PUBMED:22194599] [PUBMED:10687947] [PUBMED:24412155] [PUBMED:22087031] [PUBMED:15655247] [PUBMED:17971838] [PUBMED:14711376] [PUBMED:23058688] [PUBMED:18450475] [PUBMED:11830493] [PUBMED:12748184] [PUBMED:18413366] [PUBMED:20974860] [PUBMED:19733083] [PUBMED:18812315] [PUBMED:11931647] [PUBMED:12729888] [PUBMED:23305321] [PUBMED:12509413] [PUBMED:15994311] [PUBMED:18949819] [PUBMED:22563565] [PUBMED:22033227] [PUBMED:18505598] [PUBMED:11717317] [PUBMED:19255147] [PUBMED:21155971]
Retinoid metabolism and transport [NCBI:1269624] [REACTOME:R-HSA-975634] [PUBMED:11340090] [PUBMED:16011460]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:19648010] [PUBMED:17604717] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:15863030] [PUBMED:21252999] [PUBMED:19379690] [PUBMED:19536106] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:15450248] [PUBMED:15520807] [PUBMED:16939974] [PUBMED:18483217] [PUBMED:18043707] [PUBMED:19762341] [PUBMED:21781017] [PUBMED:17084981] [PUBMED:19619488] [PUBMED:17496910]
Visual phototransduction [NCBI:1269623] [REACTOME:R-HSA-2187338] [PUBMED:15384919] [PUBMED:22074928] [PUBMED:20188572] [PUBMED:21111842] [PUBMED:8382952] [PUBMED:21350678] [PUBMED:22074927] [PUBMED:20430952] [PUBMED:16011460] [PUBMED:11340090] [PUBMED:16688755] [PUBMED:22658984]