GPC6 (glypican 6)

Gene

• Entrez ID: 10082
• Gene name: Glypican 6
• Gene symbol: GPC6
• Synonyms: OMIMD1
• Chromosome: 13
• Chromosome location: 13q31.3-q32.1
• Summary: The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs863223282	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044098	hsa-miR-361-5p	CLASH	23622248
MIRT537096	hsa-miR-1279	PAR-CLIP	22012620
MIRT537097	hsa-miR-483-5p	PAR-CLIP	22012620
MIRT537098	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT537099	hsa-miR-7161-5p	PAR-CLIP	22012620
MIRT537100	hsa-miR-548u	PAR-CLIP	22012620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0005515	Function	Protein binding	IPI	29162697
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006024	Process	Glycosaminoglycan biosynthetic process	TAS
GO:0006027	Process	Glycosaminoglycan catabolic process	TAS
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0009986	Component	Cell surface	IBA	21873635
GO:0016477	Process	Cell migration	IBA	21873635
GO:0016477	Process	Cell migration	IDA	21871017
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045202	Component	Synapse	IBA	21873635
GO:0046658	Component	Anchored component of plasma membrane	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	IEA
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IBA	21873635
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099560	Process	Synaptic membrane adhesion	IBA	21873635
GO:1904929	Function	Coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway	NAS	24431302
GO:1905475	Process	Regulation of protein localization to membrane	IBA	21873635
GO:1905606	Process	Regulation of presynapse assembly	IBA	21873635

Other IDs

• MIM: 604404
• HGNC: 4454
• e!Ensembl: ENSG00000183098

Protein

• UniProt ID: Q9Y625
• Protein name: Glypican-6 [Cleaved into: Secreted glypican-6]
• Protein function: Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01153	Glypican	13 → 554	Glypican	Family

• Sequence:

  MPSWIGAVILPLLGLLLSLPAGADVKARSCGEVRQAYGAKGFSLADIPYQEIAGEHLRIC
  PQEYTCCTTEMEDKLSQQSKLEFENLVEETSHFVRTTFVSRHKKFDEFFRELLENAEKSL
  NDMFVRTYGMLYMQNSEVFQDLFTELKRYYTGGNVNLEEMLNDFWARLLERMFQLINPQY
  HFSEDYLECVSKYTDQLKPFGDVPRKLKIQVTRAFIAARTFVQGLTVGREVANRVSKVSP
  TPGCIRALMKMLYCPYCRGLPTVRPCNNYCLNVMKGCLANQADLDTEWNLFIDAMLLVAE
  RLEGPFNIESVMDPIDVKISEAIMNMQENSMQVSAKVFQGCGQPKPAPALRSARSAPENF
  NTRFRPYNPEERPTTAAGTSLDRLVTDIKEKLKLSKKVWSALPYTICKDESVTAGTSNEE
  ECWNGHSKARYLPEIMNDGLTNQINNPEVDVDITRPDTFIRQQIMALRVMTNKLKNAYNG
  NDVNFQDTSDESSGSGSGSGCMDDVCPTEFEFVTTEAPAVDPDRREVDSSAAQRGHSLLS
  WSLTCIVLALQRLCR

• Sequence length: 555