GPC6 (glypican 6)

2015-02-01  

Identity

HGNC
LOCATION
13q31.3
LOCUSID
ALIAS
OMIMD1
FUSION GENES

Other Information

Locus ID:

NCBI: 10082
MIM: 604404
HGNC: 4454
Ensembl: ENSG00000183098

Variants:

dbSNP: 10082
ClinVar: 10082
TCGA: ENSG00000183098
COSMIC: GPC6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183098ENST00000377047Q9Y625
ENSG00000183098ENST00000617456A0A087WT82

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with glycosaminoglycan metabolismREACTOMER-HSA-3560782
Defective B4GALT7 causes EDS, progeroid typeREACTOMER-HSA-3560783
Defective B3GAT3 causes JDSSDHDREACTOMER-HSA-3560801
Defective EXT1 causes exostoses 1, TRPS2 and CHDSREACTOMER-HSA-3656253
Defective EXT2 causes exostoses 2REACTOMER-HSA-3656237
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
A tetrasaccharide linker sequence is required for GAG synthesisREACTOMER-HSA-1971475
HS-GAG biosynthesisREACTOMER-HSA-2022928
HS-GAG degradationREACTOMER-HSA-2024096
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Defective B3GALT6 causes EDSP2 and SEMDJL1REACTOMER-HSA-4420332
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
194811942009Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.38
206348922010A genome-wide association study of neuroticism in a population-based sample.31
218710172011NFAT promotes carcinoma invasive migration through glypican-6.31
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
248042152014Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line.26
264489452015Overexpression of GPC6 and TMEM132D in Early Stage Ovarian Cancer Correlates with CD8+ T-Lymphocyte Infiltration and Increased Patient Survival.7
197264292010Allelic imbalance at 13q31 is associated with reduced GPC6 in Chinese with sporadic retinoblastoma.6
206920502010Association to the Glypican-5 gene in multiple sclerosis.5
311998132019Glypican 6 is a putative biomarker for metastatic progression of cutaneous melanoma.1

Citation

Dessen P

GPC6 (glypican 6)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55080/gpc6