GPC4 (glypican 4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2239
Gene name Glypican 4
Gene symbol GPC4
Synonyms (NCBI Gene)
K-glypicanKPTS
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 SNP information provided by dbSNP.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
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.
932
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (932)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005634 Component Nucleus HDA 21630459
GO:0005796 Component Golgi lumen TAS
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300168 4452 ENSG00000076716
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Craniosynostosis syndrome Likely pathogenic rs2124120705 RCV001849687
Distal shortening of limbs Likely pathogenic rs1556022962 RCV000577885
GPC4-related disorder Likely pathogenic rs1603054589 RCV003983381
Keipert syndrome Likely pathogenic; Pathogenic rs2520399910, rs2520390381, rs1556022641, rs1556022644, rs1556025980, rs1556028269, rs1569339879, rs1569341521 RCV003389620
RCV004579651
RCV000659264
RCV000659266
RCV000659265
RCV000659267
RCV000768696
RCV000768697
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nonpapillary renal cell carcinoma Uncertain significance rs1334272349 RCV005931124
See cases Uncertain significance rs770317897 RCV002275376
Simpson-Golabi-Behmel syndrome type 1 Benign rs57898529 RCV002495999
Thyroid cancer, nonmedullary, 1 Benign; Likely benign; Uncertain significance rs142826244, rs928201352, rs773510836 RCV005922711
RCV005931078
RCV005933643
Show/Hide Text Mining Associations (25)
Associations from Text MiningDisease associations identified through Pubtator
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