Gene Gene information from NCBI Gene database.
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.
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
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.
24
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.
MIM HGNC e!Ensembl
300168 4452 ENSG00000076716
Protein Protein information from UniProt database.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Craniosynostosis syndrome Likely pathogenic rs2124120705 RCV001849687
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal shortening of limbs Likely pathogenic rs1556022962 RCV000577885
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GPC4-related disorder Likely pathogenic rs1603054589 RCV003983381
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keipert syndrome Likely pathogenic; Pathogenic rs2520399910, rs2520390381, rs1556022641, rs1556022644, rs1556025980, rs1556028269, rs1569339879, rs1569341521 RCV003389620
RCV004579651
RCV000659264
RCV000659266
RCV000659265
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CRANIOFACIAL ABNORMALITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NASODIGITOACOUSTIC SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Accessory nipple Accessory Nipple HPO_DG
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 17545191 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 17545191 Stimulate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 37511353 Inhibit
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Bilateral Wilms Tumor Wilms tumor CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Bone Diseases Developmental Bone disease Pubtator 30982611 Associate
★☆☆☆☆
Found in Text Mining only
Bone Diseases, Developmental Bone Disease BEFREE 30982611
★☆☆☆☆
Found in Text Mining only