GPC3 (glypican 3)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 2719
• Gene name: Glypican 3
• Gene symbol: GPC3
• Synonyms (NCBI Gene): DGSX, GTR2-2, MXR7, OCI-5, SDYS, SGB, SGBS, SGBS1
• Chromosome: X
• Chromosome location: Xq26.2
• Summary: Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protei

SNPs Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894854	A>T	Pathogenic	Coding sequence variant, missense variant
rs104894855	G>A	Pathogenic	Coding sequence variant, stop gained
rs122453119	G>A	Pathogenic	Coding sequence variant, missense variant
rs122453120	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs122453121	G>A	Pathogenic	Coding sequence variant, stop gained
rs138450923	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs141100113	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs267606850	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs398124166	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs745968470	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs753210097	G>A,T	Likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant
rs869025181	CCCTTAGGGAGAC>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs869025182	C>A	Pathogenic	Splice donor variant
rs869025183	C>T	Pathogenic	Intron variant, splice donor variant
rs886039384	AT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs886039473	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039489	C>T	Pathogenic	Splice donor variant
rs886039908	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517739	C>A	Pathogenic	Coding sequence variant, stop gained
rs1556263859	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1556297749	CTGGGTCATAATAAGCTTGGGGAAAT>TGCAAG	Pathogenic	Frameshift variant, coding sequence variant
rs1569392947	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569408743	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569426054	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1602581162	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1603240717	->A	Pathogenic	Coding sequence variant, stop gained

miRNA Show/Hide all (10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006231	hsa-miR-219a-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22449976
MIRT006231	hsa-miR-219a-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22449976
MIRT006231	hsa-miR-219a-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22449976
MIRT006231	hsa-miR-219a-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22449976
MIRT006231	hsa-miR-219a-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22449976
MIRT006231	hsa-miR-219a-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22449976
MIRT053054	hsa-miR-520c-3p	Flow, Luciferase reporter assay, Western blot	23647462
MIRT053054	hsa-miR-520c-3p	Luciferase reporter assay, QRTPCR, Western blot	23607462
MIRT053054	hsa-miR-520c-3p	qRT-PCR, Western blot	27633306
MIRT734767	hsa-miR-527	Western blotting, Microarray	33613718

Gene ontology (GO) Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001822	Process	Kidney development	IEA
GO:0005515	Function	Protein binding	IPI	17549790, 29162697, 39822733
GO:0005764	Component	Lysosome	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	8589713
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009948	Process	Anterior/posterior axis specification	IEA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0009986	Component	Cell surface	IBA
GO:0010171	Process	Body morphogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0030282	Process	Bone mineralization	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0040008	Process	Regulation of growth	IEA
GO:0042074	Process	Cell migration involved in gastrulation	ISS
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045732	Process	Positive regulation of protein catabolic process	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	ISS
GO:0045807	Process	Positive regulation of endocytosis	IEA
GO:0045807	Process	Positive regulation of endocytosis	ISS
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0045926	Process	Negative regulation of growth	IEA
GO:0046326	Process	Positive regulation of D-glucose import	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060422	Function	Peptidyl-dipeptidase inhibitor activity	IDA	17549790
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IDA	14610063
GO:0060976	Process	Coronary vasculature development	IEA
GO:0060976	Process	Coronary vasculature development	ISS
GO:0072111	Process	Cell proliferation involved in kidney development	IEA
GO:0072111	Process	Cell proliferation involved in kidney development	ISS
GO:0072138	Process	Mesenchymal cell proliferation involved in ureteric bud development	IEA
GO:0072138	Process	Mesenchymal cell proliferation involved in ureteric bud development	ISS
GO:0072180	Process	Mesonephric duct morphogenesis	IEA
GO:0072180	Process	Mesonephric duct morphogenesis	ISS
GO:0072203	Process	Cell proliferation involved in metanephros development	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IBA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IDA	24496449
GO:0098552	Component	Side of membrane	IEA
GO:1905475	Process	Regulation of protein localization to membrane	IBA
GO:2000050	Process	Regulation of non-canonical Wnt signaling pathway	IDA	14610063
GO:2000096	Process	Positive regulation of Wnt signaling pathway, planar cell polarity pathway	IEA

Other IDs

• MIM: 300037
• HGNC: 4451
• e!Ensembl: ENSG00000147257

Protein

• UniProt ID: P51654
• Protein name: Glypican-3 (GTR2-2) (Intestinal protein OCI-5) (MXR7) [Cleaved into: Glypican-3 alpha subunit; Glypican-3 beta subunit]
• Protein function: Cell surface proteoglycan (PubMed:14610063). Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for binding to hedgehog proteins (By similarity).
• PDB: 7ZA1 , 7ZAW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01153	Glypican	14 → 578	Glypican	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Highly expressed in lung, liver and kidney. {ECO:0000269|PubMed:32337544, ECO:0000269|PubMed:8589713}.
• Sequence:

  MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGS
  DLQVCLPKGPTCCSRKMEEKYQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVR
  HAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYT
  QLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVI
  NTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYI
  LSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSA
  YYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDT
  LCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPK
  GRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQ
  QATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH

• Sequence length: 580

Pathways

KEGG Pathway	Reactome Pathway
Proteoglycans in cancer	A tetrasaccharide linker sequence is required for GAG synthesis
	HS-GAG biosynthesis
	HS-GAG degradation
	Defective B4GALT7 causes EDS, progeroid type
	Defective B3GAT3 causes JDSSDHD
	Defective EXT2 causes exostoses 2
	Defective EXT1 causes exostoses 1, TRPS2 and CHDS
	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
	Defective B3GALT6 causes EDSP2 and SEMDJL1
	Post-translational protein phosphorylation
	Retinoid metabolism and transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
GPC3-related disorder	Pathogenic	rs2076400400	RCV004731100	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs2124479966, rs2521354962	RCV005924247 RCV005937377	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Simpson-Golabi-Behmel syndrome type 1	Pathogenic; Likely pathogenic	rs886039489, rs2071074944, rs2124634791, rs2071700502, rs2124401754, rs1206002281, rs2521895386, rs886039908, rs869025181, rs104894854, rs869025182, rs104894855, rs869025183, rs122453121, rs267606850, rs2521895947, rs2521354962, rs1569426054, rs753210097	RCV001645005 RCV001782224 RCV001808025 RCV002077378 RCV002272751 RCV002272947 RCV002286516 RCV000256430 RCV000012451 RCV000012453 RCV000012454 RCV000012455 RCV000012459 RCV000012460 RCV000012461 RCV003405203 RCV003990008 RCV000681476 RCV000755692	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2521895048, rs869025182, rs2071072322	RCV005928667 RCV005887454 RCV005912519	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wilms tumor 1	Pathogenic; Likely pathogenic	rs2124330798, rs2124479949, rs2124634791, rs2124401750, rs2124480362, rs267606850, rs2124479966, rs2124401794, rs2124655627, rs752194694, rs2521016626, rs2521895087, rs2071072751, rs2521356554, rs2521895048, rs104894855, rs122453119, rs122453121, rs2521972014, rs2521016238, rs1556297749, rs1569392947, rs1569408743, rs1603240717, rs1602581162, rs2071072322, rs2071072718, rs2071701505, rs2076400400, rs2076400520	RCV001378188 RCV001387823 RCV002541464 RCV002046444 RCV001970089 RCV002042596 RCV001960136 RCV002002382 RCV001970035 RCV005095840 RCV002580095 RCV002889561 RCV002889503 RCV002853146 RCV002872284 RCV000692634 RCV000012456 RCV000653751 RCV003501851 RCV003608081 RCV000532170 RCV000684891 RCV000697859 RCV000823186 RCV000812314 RCV001054387 RCV001211200 RCV001210467 RCV001211057 RCV001204028	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (23)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	16698587, 28284560	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	30804565	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA	—	CTD	10656689	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIMPSON-GOLABI-BEHMEL SYNDROME	—	CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	10402475, 10814714, 10964473, 11846487, 20301398, 29637653	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	—	Disgenet, HPO, ClinGen Disgenet, HPO, ClinGen	10814714,16158429,17850639,18203194,8589713,9950367, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	28825729	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (261)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory nipple	Accessory Nipple	BEFREE	11477610, 22807161		★☆☆☆☆ Found in Text Mining only
Accessory nipple	Accessory Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12816733, 18469798, 28315695, 30196987, 9371521		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	25619476		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	12816733, 26345955		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	19860840, 30036224		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	2408413		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	22914605, 23715166		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	21655958, 28207681		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	11008203		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

GPC4 2 shared diseasesSimpson-golabi-behmel syndrome, Wilms tumor 9 shared pathwaysA tetrasaccharide linker sequence is required for GAG synthesis, HS-GAG biosynthesis, HS-GAG degradation, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective EXT2 causes exostoses 2, Defective EXT1 causes exostoses 1, TRPS2 and CHDS, Defective B3GALT6 causes EDSP2 and SEMDJL1, Retinoid metabolism and transport 8 shared evidence sourcesDisgenet (Simpson-golabi-behmel syndrome), CTD (Simpson-golabi-behmel syndrome), Orphanet (Simpson-golabi-behmel syndrome), ClinVar (Simpson-golabi-behmel syndrome), HPO (Simpson-golabi-behmel syndrome), CTD (Wilms tumor), ClinVar (Wilms tumor), HPO (Wilms tumor) Related via 9 shared pathways including A tetrasaccharide linker sequence is required for GAG synthesis, HS-GAG biosynthesis — evidence mostly CTD. GPC6 9 shared pathwaysA tetrasaccharide linker sequence is required for GAG synthesis, HS-GAG biosynthesis, HS-GAG degradation, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective EXT2 causes exostoses 2, Defective EXT1 causes exostoses 1, TRPS2 and CHDS, Defective B3GALT6 causes EDSP2 and SEMDJL1, Retinoid metabolism and transport Related via 9 shared pathways including A tetrasaccharide linker sequence is required for GAG synthesis, HS-GAG biosynthesis. GPC2 9 shared pathwaysA tetrasaccharide linker sequence is required for GAG synthesis, HS-GAG biosynthesis, HS-GAG degradation, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective EXT2 causes exostoses 2, Defective EXT1 causes exostoses 1, TRPS2 and CHDS, Defective B3GALT6 causes EDSP2 and SEMDJL1, Retinoid metabolism and transport Related via 9 shared pathways including A tetrasaccharide linker sequence is required for GAG synthesis, HS-GAG biosynthesis. GPC5 9 shared pathwaysA tetrasaccharide linker sequence is required for GAG synthesis, HS-GAG biosynthesis, HS-GAG degradation, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective EXT2 causes exostoses 2, Defective EXT1 causes exostoses 1, TRPS2 and CHDS, Defective B3GALT6 causes EDSP2 and SEMDJL1, Retinoid metabolism and transport Related via 9 shared pathways including A tetrasaccharide linker sequence is required for GAG synthesis, HS-GAG biosynthesis. GPC1 10 shared pathwaysProteoglycans in cancer, A tetrasaccharide linker sequence is required for GAG synthesis, HS-GAG biosynthesis, HS-GAG degradation, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective EXT2 causes exostoses 2, Defective EXT1 causes exostoses 1, TRPS2 and CHDS, Defective B3GALT6 causes EDSP2 and SEMDJL1, Retinoid metabolism and transport Related via 10 shared pathways including Proteoglycans in cancer, A tetrasaccharide linker sequence is required for GAG synthesis.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GPC4	2	["Simpson-golabi-behmel syndrome","Wilms tumor"]	9	["A tetrasaccharide linker sequence is required for GAG synthesis","HS-GAG biosynthesis","HS-GAG degradation","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective EXT2 causes exostoses 2","Defective EXT1 causes exostoses 1, TRPS2 and CHDS","Defective B3GALT6 causes EDSP2 and SEMDJL1","Retinoid metabolism and transport"]	8	["Disgenet (Simpson-golabi-behmel syndrome)","CTD (Simpson-golabi-behmel syndrome)","Orphanet (Simpson-golabi-behmel syndrome)","ClinVar (Simpson-golabi-behmel syndrome)","HPO (Simpson-golabi-behmel syndrome)","CTD (Wilms tumor)","ClinVar (Wilms tumor)","HPO (Wilms tumor)"]
GPC6	0	[]	9	["A tetrasaccharide linker sequence is required for GAG synthesis","HS-GAG biosynthesis","HS-GAG degradation","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective EXT2 causes exostoses 2","Defective EXT1 causes exostoses 1, TRPS2 and CHDS","Defective B3GALT6 causes EDSP2 and SEMDJL1","Retinoid metabolism and transport"]	0	[]
GPC2	0	[]	9	["A tetrasaccharide linker sequence is required for GAG synthesis","HS-GAG biosynthesis","HS-GAG degradation","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective EXT2 causes exostoses 2","Defective EXT1 causes exostoses 1, TRPS2 and CHDS","Defective B3GALT6 causes EDSP2 and SEMDJL1","Retinoid metabolism and transport"]	0	[]
GPC5	0	[]	9	["A tetrasaccharide linker sequence is required for GAG synthesis","HS-GAG biosynthesis","HS-GAG degradation","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective EXT2 causes exostoses 2","Defective EXT1 causes exostoses 1, TRPS2 and CHDS","Defective B3GALT6 causes EDSP2 and SEMDJL1","Retinoid metabolism and transport"]	0	[]
GPC1	0	[]	10	["Proteoglycans in cancer","A tetrasaccharide linker sequence is required for GAG synthesis","HS-GAG biosynthesis","HS-GAG degradation","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective EXT2 causes exostoses 2","Defective EXT1 causes exostoses 1, TRPS2 and CHDS","Defective B3GALT6 causes EDSP2 and SEMDJL1","Retinoid metabolism and transport"]	0	[]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 3 of 5 related genesGPC6, GPC5, GPC1 Craniofacial abnormalities Linked via 2 of 5 related genesGPC4, GPC6 Alzheimer disease Linked via 2 of 5 related genesGPC6, GPC5 Colorectal cancer Linked via 2 of 5 related genesGPC6, GPC5 Major depressive disorder Linked via 2 of 5 related genesGPC6, GPC5

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	3	["GPC6","GPC5","GPC1"]
Craniofacial abnormalities	2	["GPC4","GPC6"]
Alzheimer disease	2	["GPC6","GPC5"]
Colorectal cancer	2	["GPC6","GPC5"]
Major depressive disorder	2	["GPC6","GPC5"]