GlyCosmos Portal

Submissions

glypican 3

Summary

Gene Symbol

GPC3

Aliases

DGSX
OCI-5
SGB
SGBS
SGBS1
glypican proteoglycan 3

Organism

Homo sapiens (human)

External Links

NCBI Gene

2719

HGNC

4451

KEGG Gene ID

hsa:2719

PubChem

2719

Alliance of Genome Resources

HGNC:4451

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 37 in total

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GO Term	Evidence Code	PMID
branching involved in ureteric bud morphogenesis	IEA
smoothened signaling pathway	IEA
response to bacterium	IEA
anatomical structure morphogenesis	TAS	8589713
anterior/posterior axis specification	IEA

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

smoothened signaling pathway

Wnt signaling pathway [inference]

non-canonical Wnt signaling pathway [inference]

Wnt signaling pathway, planar cell polarity pathway

canonical Wnt signaling pathway

cell population proliferation [inference]

mesenchymal cell proliferation [inference]

mesenchymal cell proliferation involved in ureteric bud development

epithelial cell proliferation

cell proliferation involved in kidney development

cell proliferation involved in mesonephros development [inference]

mesenchymal cell proliferation involved in ureteric bud development

cell proliferation involved in metanephros development

cellular developmental process [inference]

cell differentiation [inference]

leukocyte differentiation [inference]

myeloid leukocyte differentiation [inference]

osteoclast differentiation

myeloid cell differentiation [inference]

myeloid leukocyte differentiation [inference]

osteoclast differentiation

cell motility [inference]

cell migration

ameboidal-type cell migration [inference]

cell migration involved in gastrulation

multicellular organismal process [inference]

morphogenesis of a branching structure [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube [inference]

branching involved in ureteric bud morphogenesis

pattern specification process [inference]

axis specification [inference]

anterior/posterior axis specification

developmental process [inference]

anatomical structure morphogenesis

morphogenesis of a branching structure [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube [inference]

branching involved in ureteric bud morphogenesis

body morphogenesis

appendage morphogenesis [inference]

limb morphogenesis [inference]

embryonic limb morphogenesis [inference]

embryonic hindlimb morphogenesis

hindlimb morphogenesis [inference]

embryonic hindlimb morphogenesis

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis [inference]

embryonic hindlimb morphogenesis

tube morphogenesis [inference]

branching morphogenesis of an epithelial tube [inference]

branching involved in ureteric bud morphogenesis

epithelial tube morphogenesis [inference]

renal tubule morphogenesis [inference]

nephron tubule morphogenesis [inference]

mesonephric tubule morphogenesis [inference]

mesonephric duct morphogenesis

nephric duct morphogenesis [inference]

mesonephric duct morphogenesis

embryonic morphogenesis [inference]

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis [inference]

embryonic hindlimb morphogenesis

tissue morphogenesis [inference]

morphogenesis of an epithelium [inference]

epithelial tube morphogenesis [inference]

renal tubule morphogenesis [inference]

nephron tubule morphogenesis [inference]

mesonephric tubule morphogenesis [inference]

mesonephric duct morphogenesis

nephric duct morphogenesis [inference]

mesonephric duct morphogenesis

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube [inference]

branching involved in ureteric bud morphogenesis

nephron epithelium morphogenesis [inference]

nephron tubule morphogenesis [inference]

mesonephric tubule morphogenesis [inference]

mesonephric duct morphogenesis

anatomical structure development [inference]

blood vessel development [inference]

coronary vasculature development

tissue development [inference]

biomineral tissue development [inference]

bone mineralization

animal organ development [inference]

lung development

cellular developmental process [inference]

cell differentiation [inference]

leukocyte differentiation [inference]

myeloid leukocyte differentiation [inference]

osteoclast differentiation

myeloid cell differentiation [inference]

myeloid leukocyte differentiation [inference]

osteoclast differentiation

biological process involved in interspecies interaction between organisms [inference]

response to other organism [inference]

response to bacterium

response to stimulus [inference]

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to bacterium

response to biotic stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to bacterium

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of protein catabolic process

positive regulation of macromolecule metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process

regulation of catabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of protein catabolic process

regulation of protein catabolic process [inference]

positive regulation of protein catabolic process

regulation of nitrogen compound metabolic process [inference]

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

regulation of protein catabolic process [inference]

positive regulation of protein catabolic process

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

regulation of protein catabolic process [inference]

positive regulation of protein catabolic process

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

regulation of protein catabolic process [inference]

positive regulation of protein catabolic process

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of signaling [inference]

regulation of signal transduction

regulation of smoothened signaling pathway [inference]

positive regulation of signal transduction [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

positive regulation of smoothened signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of smoothened signaling pathway

regulation of Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of canonical Wnt signaling pathway

regulation of non-canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

regulation of Wnt signaling pathway, planar cell polarity pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of BMP signaling pathway [inference]

positive regulation of BMP signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

positive regulation of smoothened signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of smoothened signaling pathway

regulation of localization [inference]

regulation of transport [inference]

regulation of transmembrane transport [inference]

regulation of glucose transmembrane transport [inference]

positive regulation of glucose transmembrane transport [inference]

positive regulation of glucose import

regulation of glucose import [inference]

positive regulation of glucose import

positive regulation of transmembrane transport [inference]

positive regulation of glucose transmembrane transport [inference]

positive regulation of glucose import

positive regulation of transport [inference]

positive regulation of transmembrane transport [inference]

positive regulation of glucose transmembrane transport [inference]

positive regulation of glucose import

positive regulation of endocytosis

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis

regulation of cellular localization [inference]

regulation of protein localization [inference]

regulation of protein localization to membrane

regulation of growth [inference]

negative regulation of growth

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of protein catabolic process

positive regulation of macromolecule metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein catabolic process

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

positive regulation of smoothened signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

positive regulation of smoothened signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

positive regulation of transmembrane transport [inference]

positive regulation of glucose transmembrane transport [inference]

positive regulation of glucose import

positive regulation of cellular component organization [inference]

positive regulation of endocytosis

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

positive regulation of smoothened signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

positive regulation of transport [inference]

positive regulation of transmembrane transport [inference]

positive regulation of glucose transmembrane transport [inference]

positive regulation of glucose import

positive regulation of endocytosis

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of smoothened signaling pathway

negative regulation of growth

negative regulation of cellular process [inference]

negative regulation of cell population proliferation [inference]

negative regulation of epithelial cell proliferation

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of smoothened signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of smoothened signaling pathway

regulation of response to stimulus [inference]

regulation of signal transduction

regulation of smoothened signaling pathway [inference]

positive regulation of signal transduction [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

positive regulation of smoothened signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of smoothened signaling pathway

regulation of Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of canonical Wnt signaling pathway

regulation of non-canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

regulation of Wnt signaling pathway, planar cell polarity pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of BMP signaling pathway [inference]

positive regulation of BMP signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

positive regulation of smoothened signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of smoothened signaling pathway

regulation of cellular response to growth factor stimulus [inference]

regulation of BMP signaling pathway [inference]

positive regulation of BMP signaling pathway

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

smoothened signaling pathway

Wnt signaling pathway [inference]

non-canonical Wnt signaling pathway [inference]

Wnt signaling pathway, planar cell polarity pathway

canonical Wnt signaling pathway

regulation of cell communication [inference]

regulation of signal transduction

regulation of smoothened signaling pathway [inference]

positive regulation of signal transduction [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

positive regulation of smoothened signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of smoothened signaling pathway

regulation of Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of canonical Wnt signaling pathway

regulation of non-canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

regulation of Wnt signaling pathway, planar cell polarity pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of BMP signaling pathway [inference]

positive regulation of BMP signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

positive regulation of smoothened signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of smoothened signaling pathway

regulation of transmembrane transport [inference]

regulation of glucose transmembrane transport [inference]

positive regulation of glucose transmembrane transport [inference]

positive regulation of glucose import

regulation of glucose import [inference]

positive regulation of glucose import

positive regulation of transmembrane transport [inference]

positive regulation of glucose transmembrane transport [inference]

positive regulation of glucose import

regulation of cell population proliferation [inference]

negative regulation of cell population proliferation [inference]

negative regulation of epithelial cell proliferation

regulation of epithelial cell proliferation [inference]

negative regulation of epithelial cell proliferation

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of Wnt signaling pathway [inference]

positive regulation of canonical Wnt signaling pathway

positive regulation of non-canonical Wnt signaling pathway [inference]

positive regulation of Wnt signaling pathway, planar cell polarity pathway

positive regulation of smoothened signaling pathway

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

positive regulation of BMP signaling pathway

positive regulation of transmembrane transport [inference]

positive regulation of glucose transmembrane transport [inference]

positive regulation of glucose import

positive regulation of cellular component organization [inference]

positive regulation of endocytosis

negative regulation of cellular process [inference]

negative regulation of cell population proliferation [inference]

negative regulation of epithelial cell proliferation

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of smoothened signaling pathway

regulation of cellular component organization [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis

positive regulation of cellular component organization [inference]

positive regulation of endocytosis

regulation of cellular localization [inference]

regulation of protein localization [inference]

regulation of protein localization to membrane

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis

regulation of molecular function [inference]

negative regulation of molecular function [inference]

negative regulation of catalytic activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of peptidase activity

regulation of catalytic activity [inference]

negative regulation of catalytic activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of peptidase activity

regulation of hydrolase activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
endoplasmic reticulum lumen	TAS
Golgi lumen	TAS
plasma membrane	ISS
plasma membrane	TAS
plasma membrane	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cell surface

membrane [inference]

plasma membrane

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

side of membrane

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein binding	IPI	17549790 29162697
peptidyl-dipeptidase inhibitor activity	IDA	17549790

GO Hierarchy

molecular function

binding [inference]

protein binding

molecular function regulator activity [inference]

enzyme regulator activity [inference]

enzyme inhibitor activity [inference]

peptidase inhibitor activity [inference]

peptidyl-dipeptidase inhibitor activity

peptidase regulator activity [inference]

peptidase inhibitor activity [inference]

peptidyl-dipeptidase inhibitor activity

molecular function inhibitor activity [inference]

enzyme inhibitor activity [inference]

peptidase inhibitor activity [inference]

peptidyl-dipeptidase inhibitor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

GlyPicaN

Functional Category

E: Amino acid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
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

17549790

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1	Alliance of Genome Resources
DOID:2154	nephroblastoma	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000463	Anteverted nares
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000494	Downslanted palpebral fissures
HP:0000526	Aniridia
HP:0000689	Dental malocclusion
HP:0000750	Delayed speech and language development
HP:0000767	Pectus excavatum
HP:0000768	Pectus carinatum
HP:0000772	Abnormal rib morphology

Displaying **all 4** entries
Disease ID	Disease Name
OMIM:312870	Simpson-Golabi-Behmel syndrome type 1
ORPHA:654	kidney Wilms tumor
OMIM:194070	Wilms tumor 1
ORPHA:373	Simpson-Golabi-Behmel syndrome

PubChem Disease

GHR Health Conditions

Simpson-Golabi-Behmel syndrome

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Orthologous MAtrix
Oreochromis niloticus	102075906	ORENI47820
Macaca fascicularis	102137748	MACFA45177
Capra hircus	102179551	CAPHI31192
Nannospalax galili	103728774	NANGA05037
Pteropus vampyrus	105308098	PTEVA15388
Macaca nemestrina	105481423	MACNE30641
Mandrillus leucophaeus	105554743	MANLE29702
Cercocebus atys	105586241	CERAT20130
Aotus nancymaae	105732277	AOTNA36496
Propithecus coquereli	105817666	PROCO06322

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements