Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2239
Gene name Gene Name - the full gene name approved by the HGNC.
Glypican 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GPC4
Synonyms (NCBI Gene) Gene synonyms aliases
K-glypican, KPTS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
KPTS
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1556022641 G>A Pathogenic Stop gained, coding sequence variant
rs1556022644 C>A Pathogenic Stop gained, coding sequence variant
rs1556022962 C>T Likely-pathogenic Missense variant, coding sequence variant
rs1556025980 ->T Pathogenic Frameshift variant, coding sequence variant
rs1556028269 C>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006768 hsa-miR-125a-3p Luciferase reporter assay 22644326
MIRT021567 hsa-miR-142-3p Microarray 17612493
MIRT024432 hsa-miR-215-5p Microarray 19074876
MIRT026559 hsa-miR-192-5p Microarray 19074876
MIRT029649 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process TAS
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus HDA 21630459
GO:0005796 Component Golgi lumen TAS
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300168 4452 ENSG00000076716
Protein
UniProt ID O75487
Protein name Glypican-4 (K-glypican) [Cleaved into: Secreted glypican-4]
Protein function Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01153 Glypican 9 553 Glypican Family
Sequence
Sequence length 556
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Wnt signaling pathway   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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Associate 17545191
Arthritis Psoriatic Stimulate 17545191
Asymptomatic Infections Associate 31651874
Atherosclerosis Inhibit 37511353
Bone Diseases Developmental Associate 30982611
Breast Neoplasms Associate 11454708, 32199612
Cell Transformation Neoplastic Inhibit 32199612
Craniofacial Abnormalities Associate 30982611
Craniosynostoses Associate 31292255
Ehlers Danlos syndrome type 3 Associate 27518164