Details for Gene HSPG2

GENE NAME HSPG2
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000142798
UNIPROT ACCESSION NUMBER P98160
GO MOLECULAR FUNCTION ['extracellular matrix structural constituent conferring compression resistance', 'calcium ion binding', 'low-density lipoprotein particle receptor binding', 'protein C-terminus binding', 'protein binding', 'amyloid-beta binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04512; hsa05161; hsa05205; R-HSA-1430728; R-HSA-1474228; R-HSA-1474244; R-HSA-162582; R-HSA-1630316; R-HSA-1638091; R-HSA-1643685; R-HSA-1793185; R-HSA-196854; R-HSA-1971475; R-HSA-2022928; R-HSA-2024096; R-HSA-216083; R-HSA-2187338; R-HSA-3000157; R-HSA-3000171; R-HSA-3000178; R-HSA-3560782; R-HSA-3560783; R-HSA-3560801; R-HSA-3656237; R-HSA-3656253; R-HSA-372790; R-HSA-3781865; R-HSA-388396; R-HSA-392499; R-HSA-418594; R-HSA-4420332; R-HSA-5668914; R-HSA-6806667; R-HSA-71387; R-HSA-975634; R-HSA-977225
4 combinations linked to HSPG2 OLI1028; OLI1683; OLI1676; OLI1679
5 variants linked to HSPG2 HSPG2:c.10721-2dupA, ; HSPG2:c.212G>A, p.Ser71Asn; HSPG2:c.2023C>T, p.Arg675Trp; HSPG2:c.10084C>T, p.Arg3362Cys; HSPG2:c.9476G>A, p.Arg3159Gln
3 diseases linked to HSPG2 Short stature-brachydactyly-obesity-global developmental delay syndrome; Non-Syndromic genetic keratoconus; Syndromic genetic keratoconus
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