Gene table of HSPG2 : heparan sulfate proteoglycan 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with HSPG2OMIM linkNumber of associated genesgenes
224410DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPEClinVar, OMIM link to OMIM 1HSPG2
255800SCHWARTZ-JAMPEL SYNDROME, TYPE 1ClinVar, OMIM, HUMSAVAR link to OMIM 1HSPG2

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Annotation of the gene HSPG2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Proteoglycans in cancerhsa052055.02
ECM-receptor interactionhsa045126.09
Hepatitis Bhsa051615.52
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Visual phototransductionR-HSA-21873386.44
Diseases associated with glycosaminoglycan metabolismR-HSA-35607827.77
Defective B4GALT7 causes EDS, progeroid typeR-HSA-35607838.66
Extracellular matrix organizationR-HSA-14742444.91
MetabolismR-HSA-14307282.34
Diseases of glycosylationR-HSA-37818656.89
DiseaseR-HSA-16436853.33
Integrin cell surface interactionsR-HSA-2160836.57
Metabolism of carbohydratesR-HSA-713874.93
Chondroitin sulfate/dermatan sulfate metabolismR-HSA-17931857.34
Degradation of the extracellular matrixR-HSA-14742286.11
AmyloidsR-HSA-9772257.37
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Glycosaminoglycan metabolismR-HSA-16303166.04
Chylomicron-mediated lipid transportR-HSA-1748009.18
Lipoprotein metabolismR-HSA-1748248.23
Laminin interactionsR-HSA-30001578.08
Non-integrin membrane-ECM interactionsR-HSA-30001717.1
HS-GAG degradationR-HSA-20240968.52
Heparan sulfate/heparin (HS-GAG) metabolismR-HSA-16380917.2
HS-GAG biosynthesisR-HSA-20229288.03
Lipid digestion, mobilization, and transportR-HSA-739237.2
Defective B3GAT3 causes JDSSDHDR-HSA-35608018.66
Defective EXT2 causes exostoses 2R-HSA-36562379.28
Defective EXT1 causes exostoses 1, TRPS2 and CHDSR-HSA-36562539.28
A tetrasaccharide linker sequence is required for GAG synthesisR-HSA-19714758.28
Retinoid metabolism and transportR-HSA-9756347.59
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
protein C-terminus bindingGO:00080224.5
ion bindingGO:00431671.36
bindingGO:00054880.18
protein bindingGO:00055150.46
metal ion bindingGO:00468721.41
calcium ion bindingGO:00055093.17