Aliases for GPC3 Gene
Aliases for GPC3 Gene
External Ids for GPC3 Gene
- HGNC: 4451
- Entrez Gene: 2719
- Ensembl: ENSG00000147257
- OMIM: 300037
- UniProtKB: P51654
Previous HGNC Symbols for GPC3 Gene
- SDYS
Previous GeneCards Identifiers for GPC3 Gene
- GC0XM127315
- GC0XM129515
- GC0XM130614
- GC0XM131375
- GC0XM132395
- GC0XM132497
- GC0XM132669
- GC0XM122070
Summaries for GPC3 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 protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
GeneCards Summary for GPC3 Gene
GPC3 (Glypican 3) is a Protein Coding gene. Diseases associated with GPC3 include Simpson-Golabi-Behmel Syndrome, Type 1 and Wilms Tumor 1. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include heparan sulfate proteoglycan binding and peptidyl-dipeptidase inhibitor activity. An important paralog of this gene is GPC5.
UniProtKB/Swiss-Prot for GPC3 Gene
-
Cell surface proteoglycan that bears heparan sulfate. Inhibits the dipeptidyl peptidase activity of DPP4. May be involved in the suppression/modulation of growth in the predominantly mesodermal tissues and organs. May play a role in the modulation of IGF2 interactions with its receptor and thereby modulate its function. May regulate growth and tumor predisposition.
Additional gene information for GPC3 Gene
- Monarch Initiative
- Search for GPC3 at DataMed
- Search for GPC3 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPC3 Gene
Genomics for GPC3 Gene
GeneHancer (GH) Regulatory Elements for GPC3 Gene
Promoters and enhancers for GPC3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around GPC3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GPC3 gene promoter:
-
- STAT5A
- Sox9
- Egr-3
- c-Jun
- c-Fos
- AP-1
- SRY
- POU2F1a
- POU2F1
- C/EBPalpha
Regulatory Element Products
Genomic Locations for GPC3 Gene
Genomic Locations for GPC3 Gene
- chrX:133,535,745-133,985,895
- (GRCh38/hg38)
- Size:
- 450,151 bases
- Orientation:
- Minus strand
- chrX:132,669,773-133,119,922
- (GRCh37/hg19)
- Size:
- 450,150 bases
- Orientation:
- Minus strand
Genomic View for GPC3 Gene
Genes around GPC3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq26.2 by Entrez Gene
- Xq26.2 by HGNC
- Xq26.2 by Ensembl
GPC3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GPC3 Gene
Proteins for GPC3 Gene
-
Protein details for GPC3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P51654-GPC3_HUMAN
- Recommended name:
- Glypican-3
- Protein Accession:
- P51654
- C9JLE3
- G3V1R0
- Q2L880
- Q2L882
Protein attributes for GPC3 Gene
- Size:
- 580 amino acids
- Molecular mass:
- 65563 Da
- Quaternary structure:
-
- Interacts with DPP4.
Protein Expression for GPC3 Gene
Post-translational modifications for GPC3 Gene
Other Protein References for GPC3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for GPC3 (Glypican 3)
-
Custom Antibody ServicesOriGene Antibodies for GPC3
- Novus Biologicals Antibodies for GPC3
-
Abcam antibodies for GPC3
- Invitrogen Antibodies for GPC3 (AFLGC-GPC3)
- antibodies-online: Search results for 382 available Glypican 3 Antibodies ranked by validation data
- Compare Top Glypican 3 Antibodies
-
Recommended
- 180 IHC (p) Antibodies (anti-human)
- 107 WB Antibodies (anti-human)
- 37 FACS Antibodies (anti-human)
- 12 IF Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 48 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 72 IHC (p) Antibodies (anti-rat)
- 22 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 8 FACS Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- GeneTex GPC3 Antibody for GPC3
-
Santa Cruz Biotechnology (SCBT) Antibodies for GPC3
- Sino Biological Antibodies for GPC3
Protein Products
- R&D Systems Proteins and Enzymes for GPC3 (Glypican 3)
-
OriGene Purified Proteins for GPC3
- Search Origene for MassSpec and Protein Over-expression Lysates for GPC3
- Origene Custom Protein Services for GPC3
- Sino Biological Recombinant Proteins for GPC3
- Sino Biological Cell Lysates for GPC3
- ProSpec Recombinant Proteins for GPC3
- Search GeneTex for Proteins for GPC3
-
ProSci Proteins for GPC3
-
Abcam proteins for GPC3
No data available for DME Specific Peptides for GPC3 Gene
Domains & Families for GPC3 Gene
Gene Families for GPC3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for GPC3 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for GPC3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P51654- Family:
-
- Belongs to the glypican family.
Function for GPC3 Gene
Molecular function for GPC3 Gene
- UniProtKB/Swiss-Prot Function:
- Cell surface proteoglycan that bears heparan sulfate. Inhibits the dipeptidyl peptidase activity of DPP4. May be involved in the suppression/modulation of growth in the predominantly mesodermal tissues and organs. May play a role in the modulation of IGF2 interactions with its receptor and thereby modulate its function. May regulate growth and tumor predisposition.
- GENATLAS Biochemistry:
- glypican 3,60kDa,putative extracellular proteoglycan,involved in growth control in embryonic mesodermal tissues,complexing with and putative modulator of IGF2,juxtaposed to GPC4,with tumor suppression activity
Phenotypes From GWAS Catalog for GPC3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17549790 |
| GO:0030414 | peptidase inhibitor activity | IEA | -- |
| GO:0043395 | heparan sulfate proteoglycan binding | IEA | -- |
| GO:0060422 | peptidyl-dipeptidase inhibitor activity | IDA | 17549790 |
Phenotypes for GPC3 Gene
- MGI mutant phenotypes for GPC3:
-
inferred from 4 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- pigmentation phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- integument phenotype
- mortality/aging
- cellular phenotype
- craniofacial phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for GPC3:
-
- Decreased viability ratio
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased hepcidin::fluc mRNA expression
- Increased Sindbis virus (SINV) infection
- Decreased IL-8 secretion
- Increased transferrin (TF) endocytosis
Animal Models for GPC3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for GPC3
-
CRISPR Products
-
OriGene CRISPR knockouts for GPC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GPC3
- genomics-online: gRNA clones - Search results for 131 available Glypican 3 gene related products
- Overview of 131 available Glypican 3 gene related products
- Applied Biological Materials CRISPR for GPC3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GPC3
- GenScript: Design CRISPR guide RNA sequences for GPC3
miRNA for GPC3 Gene
- miRTarBase miRNAs that target GPC3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GPC3
- Browse OriGene Inhibitory RNA Products For GPC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPC3
- genomics-online: shRNA clones - Search results for 131 available Glypican 3 gene related products
- Overview of 131 available Glypican 3 gene related products
Clone Products
-
OriGene ORF clones in human for GPC3
- RC205911
- RC205911L1
- RC205911L2
- RC205911L3
- RC205911L4
- RC228429
- RC228429L1
- RC228429L2
- RC228429L3
- RC228429L4
- RC228459
- RC228459L1
- RC228459L2
- RC228459L3
- RC228459L4
- RC228491
- RC228491L1
- RC228491L2
- RC228491L3
- RC228491L4
- RG205911
- RG228429
- RG228459
- RG228491
- RC205911L1V
- RC205911L2V
- RC205911L3V
- RC205911L4V
- RC228429L1V
- RC228429L2V
- RC228429L3V
- RC228429L4V
- RC228459L1V
- RC228459L2V
- RC228459L3V
- RC228459L4V
- RC228491L1V
- RC228491L2V
- RC228491L3V
- RC228491L4V
- RC402730
- RC402731
- RC402732
- RC402733
- RC402734
- RC402735
- RC402736
- RC402737
- RC402738
- RC402739
- RC402740
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for GPC3
- Addgene plasmids for GPC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GPC3
- Applied Biological Materials Clones for GPC3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for GPC3 (Glypican 3)
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPC3 Gene
Localization for GPC3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GPC3 Gene
- Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.
- Secreted glypican-3: Secreted, extracellular space.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| lysosome | 4 |
| peroxisome | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005764 | lysosome | IEA | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0005796 | Golgi lumen | TAS | -- |
Pathways & Interactions for GPC3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chondroitin sulfate/dermatan sulfate metabolism |
.01
|
|
| 2 | Glycosaminoglycan metabolism | ||
| 3 | Metabolism of fat-soluble vitamins | ||
| 4 | Microglia Activation During Neuroinflammation: Overview | ||
| 5 | Proteoglycans in cancer | ||
Pathways by source for GPC3 Gene
2 BioSystems pathways for GPC3 Gene
1 KEGG pathway for GPC3 Gene
Interacting Proteins for GPC3 Gene
GPS-Prot Interaction Network for GPC3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001523 | retinoid metabolic process | TAS | -- |
| GO:0001658 | branching involved in ureteric bud morphogenesis | IEA | -- |
| GO:0001822 | kidney development | IEA | -- |
| GO:0006024 | glycosaminoglycan biosynthetic process | TAS | -- |
| GO:0006027 | glycosaminoglycan catabolic process | TAS | -- |
Drugs & Compounds for GPC3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Fludarabine | Approved | Pharma | DNA synthsis inhibitor | 1231,1231 | ||
| Cyclophosphamide | Approved, Investigational | Pharma | Nitrogen mustard alkylating agent and prodrug. | 3113 | ||
| Alkylating Agents | Pharma | 5057 | ||||
| Antimetabolites | Pharma | 12587 | ||||
| Antimetabolites, Antineoplastic | Pharma | 7688 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for GPC3 Gene
mRNA/cDNA for GPC3 Gene
- (5) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (452) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000370818 2568 bps (uc004exe.4)
- ENST00000631057 1581 bps (uc010nro.4)
- ENST00000406757 836 bps (uc065bdx.1)
- ENST00000394299 2379 bps (uc010nrn.4)
Unigene Clusters for GPC3 Gene
- Glypican 3:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for GPC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GPC3
- genomics-online: gRNA clones - Search results for 131 available Glypican 3 gene related products
- Overview of 131 available Glypican 3 gene related products
- Applied Biological Materials CRISPR for GPC3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GPC3
- GenScript: Design CRISPR guide RNA sequences for GPC3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GPC3
- Browse OriGene Inhibitory RNA Products For GPC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPC3
- genomics-online: shRNA clones - Search results for 131 available Glypican 3 gene related products
- Overview of 131 available Glypican 3 gene related products
Clone Products
-
OriGene ORF clones in human for GPC3
- RC205911
- RC205911L1
- RC205911L2
- RC205911L3
- RC205911L4
- RC228429
- RC228429L1
- RC228429L2
- RC228429L3
- RC228429L4
- RC228459
- RC228459L1
- RC228459L2
- RC228459L3
- RC228459L4
- RC228491
- RC228491L1
- RC228491L2
- RC228491L3
- RC228491L4
- RG205911
- RG228429
- RG228459
- RG228491
- RC205911L1V
- RC205911L2V
- RC205911L3V
- RC205911L4V
- RC228429L1V
- RC228429L2V
- RC228429L3V
- RC228429L4V
- RC228459L1V
- RC228459L2V
- RC228459L3V
- RC228459L4V
- RC228491L1V
- RC228491L2V
- RC228491L3V
- RC228491L4V
- RC402730
- RC402731
- RC402732
- RC402733
- RC402734
- RC402735
- RC402736
- RC402737
- RC402738
- RC402739
- RC402740
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for GPC3
- Addgene plasmids for GPC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GPC3
- Applied Biological Materials Clones for GPC3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for GPC3 (Glypican 3)
Expression for GPC3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
-
Pancreas (Endocrine System)
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
-
Epithelial Cells
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
- Cartilage (Muscoskeletal System)
- Bone (Muscoskeletal System)
-
Liver (Hepatobiliary System)
- Fetal Hepatocytes Liver Lobule
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
-
Testis (Reproductive System)
- Testicular Interstitial Cells Testis Interstitium
-
Heart (Cardiovascular System)
- Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
-
Brain (Nervous System)
- Choroid Plexus Progenitor Cells Choroid Plexus
- Head Mesenchyme (Muscoskeletal System)
- Epiblast (Early Embryonic Tissues)
- Neural Crest (Gastrulation Derivatives)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for GPC3 Gene
This gene is overexpressed in Lung (x7.5), Adipose - Subcutaneous (x6.3), Nerve - Tibial (x4.6), Adipose - Visceral (Omentum) (x4.1), and Breast - Mammary Tissue (x4.0).
This gene is overexpressed in Urine (52.6) and Placenta (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPC3 Gene
NURSA nuclear receptor signaling pathways regulating expression of GPC3 Gene:
GPC3SOURCE GeneReport for Unigene cluster for GPC3 Gene:
Hs.644108mRNA Expression by UniProt/SwissProt for GPC3 Gene:
P51654-GPC3_HUMAN
Tissue specificity:
Highly expressed in lung, liver and kidney.
Evidence on tissue expression from TISSUES for GPC3 Gene
- Liver(4.6)
- Lung(2.9)
- Kidney(2.8)
- Gall bladder(2.1)
- Blood(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GPC3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- ear
- eye
- eyelid
- face
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- neck
- nose
- outer ear
- skull
- tongue
- tooth
Thorax:
- breast
- chest wall
- clavicle
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- adrenal gland
- appendix
- biliary tract
- duodenum
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- pelvis
- penis
- placenta
- testicle
- ureter
- urethra
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- sweat gland
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for GPC3
-
OriGene qPCR primer pairs and template standards for GPC3
- genomics-online: primer clones - Search results for 131 available Glypican 3 gene related products
- Overview of 131 available Glypican 3 gene related products
Gene Expression Assay Products
Orthologs for GPC3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GPC3 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GPC3 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GPC3 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Gpc3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Gpc3 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GPC3 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GPC3 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GPC3 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GPC3 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gpc3 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gpc3 34 33 |
|
OneToOne | |
| -- 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | dally 34 |
|
OneToMany |
- Species where no ortholog for GPC3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for GPC3 Gene
- ENSEMBL:
- Gene Tree for GPC3 (if available)
- TreeFam:
- Gene Tree for GPC3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GPC3: view image
Paralogs for GPC3 Gene
Variants for GPC3 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1048793393 | likely-benign, Wilms tumor 1 | 133,754,100(-) | A/G | coding_sequence_variant, synonymous_variant | |
| rs104894854 | pathogenic, Simpson-Golabi-Behmel syndrome, Simpson-Golabi-Behmel syndrome 1 (SGBS1) [MIM:312870] | 133,753,628(-) | A/T | coding_sequence_variant, missense_variant | |
| rs104894855 | pathogenic, Simpson-Golabi-Behmel syndrome, not provided | 133,753,919(-) | G/A | coding_sequence_variant, stop_gained | |
| rs1057522079 | likely-benign, not specified, Wilms tumor 1 | 133,985,411(-) | C/A | coding_sequence_variant, synonymous_variant | |
| rs1060502170 | uncertain-significance, Wilms tumor 1 | 133,753,726(-) | G/C | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2740486 | CNV | deletion | 23290073 |
| esv3559353 | CNV | deletion | 23714750 |
| esv3574595 | CNV | loss | 25503493 |
| esv3574596 | CNV | loss | 25503493 |
| esv3574597 | CNV | loss | 25503493 |
| esv3574599 | CNV | loss | 25503493 |
| esv3577259 | CNV | gain | 25503493 |
| esv3577260 | CNV | gain | 25503493 |
Residual Variation Intolerance Score:
44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.60;
30.79% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GPC3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPC3 Gene
Disorders for GPC3 Gene
(39) MalaCards diseases for GPC3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| simpson-golabi-behmel syndrome, type 1 |
|
|
| wilms tumor 1 |
|
|
| simpson-golabi-behmel syndrome |
|
|
| perlman syndrome |
|
|
| gigantism |
|
Search GPC3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GPC3_HUMAN- Simpson-Golabi-Behmel syndrome 1 (SGBS1) [MIM:312870]: A condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. Characteristic dysmorphic features include macrocephaly with coarse, distinctive facies with a large protruding jaw, broad nasal bridge and cleft palate. Cardiac defects are frequent. {ECO:0000269 PubMed:10814714}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for GPC3
No data available for Genatlas for GPC3 Gene
Publications for GPC3 Gene
- Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. (PMID: 8589713) Pilia G … Schlessinger D (Nature genetics 1996) 2 3 4 22 58
- The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. (PMID: 17549790) Davoodi J … MacKenzie AE (Proteomics 2007) 3 4 22 58
- Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. (PMID: 10814714) Veugelers M … David G (Human molecular genetics 2000) 3 4 22 58
- GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. (PMID: 9787072) Veugelers M … David G (Genomics 1998) 2 3 22 58
- Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene. (PMID: 9339360) Huber R … Pilia G (Genomics 1997) 3 4 22 58
Products for GPC3 Gene
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Sources for GPC3 Gene
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