glypican 3

Summary
Gene Symbol
  • GPC3
Aliases
  • DGSX
  • OCI-5
  • SGB
  • SGBS
  • SGBS1
  • glypican proteoglycan 3
Organism
Homo sapiens (human)
NCBI Gene
2719
HGNC
4451
KEGG Gene ID
hsa:2719
PubChem
2719
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • GPI-anchor
  • Heparan sulfate
  • Phosphoprotein
  • Protease inhibitor
  • Proteomics identification
  • Pyrrolidone carboxylic acid
  • Reference proteome
  • Signal
Proteins
Displaying all 4 entries
UniProt Protein Name
Q53H15
I6QTG3
P51654
  • GTR2-2
  • Intestinal protein OCI-5
  • MXR7
B4DTD8
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Glypican
Functional Category
  • E: Amino acid transport and metabolism
  • K: Transcription
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
cell migration
regulation of protein localization to membrane
Displaying 1 entry
InterPro
Glypican
KEGG BRITE Database
Orthology
K08109
Name
glypican 3
References
Disease
Disease Ontology
Displaying all 7 entries
DO ID Disease Name Source
DOID:0060248 Simpson-Golabi-Behmel syndrome type 1
DOID:2129 atypical teratoid rhabdoid tumor
DOID:2154 nephroblastoma
DOID:3596 placental site trophoblastic tumor
DOID:5082 liver cirrhosis
DOID:684 hepatocellular carcinoma
DOID:687 hepatoblastoma
The Human Phenotype Ontology
Displaying entries 131 - 140 of 149 in total
HPO ID HPO Term
HP:0008416 Six lumbar vertebrae
HP:0008523 Posterior helix pit
HP:0008736 Hypoplasia of penis
HP:0009101 Submucous cleft lip
HP:0009381 Short finger
HP:0009536 Short 2nd finger
HP:0009882 Short distal phalanx of finger
HP:0009908 Anterior creases of earlobe
HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature
HP:0011039 Abnormal helix morphology
Displaying all 4 entries
Disease ID Disease Name
OMIM:312870
  • Simpson-Golabi-Behmel syndrome type 1
ORPHA:373
  • Simpson-Golabi-Behmel syndrome
ORPHA:654
  • kidney Wilms tumor
OMIM:194070
  • Wilms tumor 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024