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The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with o... See more...
Aliases for GPC6 Gene
External Ids for GPC6 Gene
- HGNC: 4454
- Entrez Gene: 10082
- Ensembl: ENSG00000183098
- OMIM: 604404
- UniProtKB: Q9Y625
Previous GeneCards Identifiers for GPC6 Gene
- GC13P092238
- GC13P088266
- GC13P092715
- GC13P091577
- GC13P092677
- GC13P093879
- GC13P074476
Summaries for GPC6 Gene
-
The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
GeneCards Summary for GPC6 Gene
GPC6 (Glypican 6) is a Protein Coding gene. Diseases associated with GPC6 include Omodysplasia 1 and Omodysplasia. Among its related pathways are Signaling by GPCR and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include heparan sulfate proteoglycan binding. An important paralog of this gene is GPC4.
UniProtKB/Swiss-Prot Summary for GPC6 Gene
-
Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling.
Additional gene information for GPC6 Gene
- HGNC(4454)
- Entrez Gene(10082)
- Ensembl(ENSG00000183098)
- OMIM(604404)
- UniProtKB(Q9Y625)
- Open Targets Platform(ENSG00000183098)
- Monarch Initiative
- Search for GPC6 at DataMed
- Search for GPC6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPC6 Gene
Genomics for GPC6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GPC6 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH13J093224 | Promoter/Enhancer | 2.4 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 600.7 | +1.6 | 1639 | 8.5 | HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 REST ZNF629 TFE3 | ENSG00000278177 GPC6 HSALNG0098638 | |
| GH13J093248 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 11.8 | +22.6 | 22605 | 2.4 | GATAD2A CTCF TFE3 NFKBIZ JUND FOXA1 PRDM1 ZIC2 POLR2A RXRB | GPC6 HSALNG0098638 ENSG00000278177 | |
| GH13J093861 | Enhancer | 0.7 | Ensembl ENCODE | 21.3 | +635.3 | 635294 | 1.4 | JUND CEBPB FOS NR2F2 FOSL2 BHLHE40 NFE2L2 CHD1 | GPC6 GPC6-AS2 piR-51137-036 DCT | |
| GH13J093881 | Enhancer | 0.6 | Ensembl ENCODE | 21 | +655.3 | 655322 | 0.8 | PRDM1 ZBTB48 BHLHE40 ZNF366 ZNF660 MZF1 | GPC6 piR-51137-036 RF00017-1467 DCT | |
| GH13J093325 | Enhancer | 0.7 | Ensembl ENCODE | 18.2 | +100.2 | 100152 | 2.5 | CUX1 ESR1 GATA3 JUND RCOR1 FOXA1 CHD2 NANOG GATA2 | GPC6 ENSG00000286843 HNRNPA1P29 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GPC6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPC6
- Top Transcription factor binding sites by QIAGEN in the GPC6 gene promoter:
-
- FOXO4
- STAT1
- STAT1alpha
- STAT1beta
- STAT2
- STAT3
- STAT4
- STAT5A
- STAT5B
- STAT6
Genomic Locations for GPC6 Gene
Genomic Locations for GPC6 Gene
- chr13:93,226,807-94,408,020
- (GRCh38/hg38)
- Size:
- 1,181,214 bases
- Orientation:
- Plus strand
- chr13:93,879,078-95,060,274
- (GRCh37/hg19)
- Size:
- 1,181,197 bases
- Orientation:
- Plus strand
Genomic View for GPC6 Gene
Genes around GPC6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 13q31.3-q32.1 by HGNC
- 13q31.3-q32.1 by Entrez Gene
- 13q31.3 by Ensembl
GPC6 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 GPC6 Gene
Proteins for GPC6 Gene
-
Protein details for GPC6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y625-GPC6_HUMAN
- Recommended name:
- Glypican-6
- Protein Accession:
- Q9Y625
- A8K279
- Q96SG5
- Q96SG8
- Q9H1P4
Protein attributes for GPC6 Gene
- Size:
- 555 amino acids
- Molecular mass:
- 62736 Da
- Quaternary structure:
- No Data Available
Protein Expression for GPC6 Gene
Post-translational modifications for GPC6 Gene
Other Protein References for GPC6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences GPC6 / Glypican 6 Antibody (LS-B10702) and GPC6 / Glypican 6 Antibody (LS-B15394)
- Creative Diagnostics Anti-GPC6 (aa 36-85) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for GPC6
- Novus Biologicals Antibodies for GPC6
-
Abcam antibodies for GPC6
- Invitrogen Antibodies for GPC6 (AFLGC-Gpc6)
- antibodies-online: Show 52 available GPC6 Antibodies ranked by validation data
- Compare Top GPC6 Antibodies
-
Recommended
- 22 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 7 FACS Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-mouse)
- 5 WB Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 2 WB Antibodies (anti-rat)
-
Biorbyt antibodies for GPC6
Protein Products
- Creative Biomart Recombinant Human Glypican 6, His-tagged
-
OriGene Purified Proteins for GPC6
- Search Origene for MassSpec and Protein Over-expression Lysates for GPC6
- Origene Custom Protein Services for GPC6
No data available for DME Specific Peptides for GPC6 Gene
Domains & Families for GPC6 Gene
Gene Families for GPC6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for GPC6 Gene
- InterPro:
- Blocks:
-
- Glypican
- ProtoNet:
Suggested Antigen Peptide Sequences for GPC6 Gene
- GenScript: Design optimal peptide antigens:
-
- Glypican-6 (GPC6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y625- Family:
-
- Belongs to the glypican family.
Function for GPC6 Gene
Molecular function for GPC6 Gene
- UniProtKB/Swiss-Prot Function:
- Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling.
- UniProtKB/Swiss-Prot Induction:
- Expression is induced by NFATC2.
- GENATLAS Biochemistry:
- glypican 6,cell surface heparan sulfate proteoglycan,widely expressed with predominant expression in the adult ovary,liver and fetal kidney,juxtaposed to GPC5,involved in cellular growth control and differentiation
Phenotypes From GWAS Catalog for GPC6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 29162697 |
| GO:1904929 | coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway | NAS | 24431302 |
Phenotypes for GPC6 Gene
- MGI mutant phenotypes for GPC6:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GPC6:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased Sindbis virus (SINV) infection
- Increased hepcidin::fluc mRNA expression
- Decreased viability
- Increased homologous recombination repair frequency
- Increased nuclear migration distance
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased peripheral FA formation, decreased cell spreading
Animal Models for GPC6 Gene
- MGI Knock Outs for GPC6:
-
- Gpc6 Gpc6<tm1Lex>
Animal Model Products
-
Taconic Biosciences Mouse Models for GPC6
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GPC6 - Select products 50% OFF >
- * GPC6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GPC6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GPC6
-
Santa Cruz Biotechnology (SCBT) CRISPR for GPC6
miRNA for GPC6 Gene
- miRTarBase miRNAs that target GPC6
-
- hsa-miR-361-5p (MIRT044098)
- hsa-miR-1279 (MIRT537096)
- hsa-miR-483-5p (MIRT537097)
- hsa-miR-32-3p (MIRT537098)
- hsa-miR-7161-5p (MIRT537099)
- hsa-miR-548u (MIRT537100)
- mmu-miR-344d-3p (MIRT583230)
- mmu-miR-410-3p (MIRT583231)
- mmu-miR-344e-3p (MIRT583232)
- mmu-miR-374b-5p (MIRT583233)
- mmu-miR-369-3p (MIRT583234)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GPC6
- Browse OriGene Inhibitory RNA Products For GPC6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPC6
Clone Products
- Applied Biological Materials (abm): Clones for GPC6 - Select products 50% OFF >
- * GPC6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GPC6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GPC6
Cell Line Products
-
Horizon Cell Lines for GPC6
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPC6 Gene
Localization for GPC6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GPC6 Gene
- Cell membrane. Lipid-anchor, GPI-anchor. Extracellular side.
- [Secreted glypican-6]: Secreted, extracellular space.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| golgi apparatus | 5 |
| extracellular | 4 |
| nucleus | 4 |
| lysosome | 4 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| mitochondrion | 1 |
| endosome | 1 |
| cytosol | 1 |
- Golgi apparatus (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IBA | 21873635 |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005796 | Golgi lumen | TAS | -- |
| GO:0005886 | plasma membrane | IEA,TAS | -- |
Pathways & Interactions for GPC6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
| 2 | Chondroitin sulfate/dermatan sulfate metabolism | ||
| 3 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
| 4 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 5 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
Pathways by source for GPC6 Gene
21 Reactome pathways for GPC6 Gene
3 R&D Systems pathways for GPC6 Gene
54 Qiagen pathways for GPC6 Gene
- 14-3-3 Induced Intracellular Signaling
- Actin-Based Motility by Rho Family GTPases
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- Activation of PKC through GPCR
Interacting Proteins for GPC6 Gene
GPS-Prot Interaction Network for GPC6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001523 | retinoid metabolic process | TAS | -- |
| GO:0006024 | glycosaminoglycan biosynthetic process | TAS | -- |
| GO:0006027 | glycosaminoglycan catabolic process | TAS | -- |
| GO:0009966 | regulation of signal transduction | IEA | -- |
| GO:0016477 | cell migration | IDA | 21871017 |
No data available for SIGNOR curated interactions for GPC6 Gene
Drugs & Compounds for GPC6 Gene
No Compound Related Data Available
Drug Products
- Creative Biomart Recombinant Human Glypican 6, His-tagged
Transcripts for GPC6 Gene
mRNA/cDNA for GPC6 Gene
- 1 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000377047 7121 nts (view in UCSC)
- ENST00000617456 792 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GPC6 - Select products 50% OFF >
- * GPC6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GPC6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GPC6
-
Santa Cruz Biotechnology (SCBT) CRISPR for GPC6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GPC6
- Browse OriGene Inhibitory RNA Products For GPC6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPC6
Clone Products
- Applied Biological Materials (abm): Clones for GPC6 - Select products 50% OFF >
- * GPC6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GPC6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GPC6
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||
| SP3: |
Relevant External Links for GPC6 Gene
- GeneLoc Exon Structure for
- GPC6
Expression for GPC6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
- Adipose (Muscoskeletal System)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Neural Crest (Gastrulation Derivatives)
mRNA differential expression in normal tissues according to GTEx for GPC6 Gene
This gene is overexpressed in Artery - Tibial (x5.1).
This gene is overexpressed in Ovary (12.1), Plasma (8.7), Cerebral cortex (8.6), Seminal vesicle (7.7), and Fetal testis (7.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPC6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPC6
SOURCE GeneReport for Unigene cluster for GPC6 Gene:
Hs.444329mRNA Expression by UniProt/SwissProt for GPC6 Gene:
Q9Y625-GPC6_HUMAN
Tissue specificity:
Widely expressed. High expression in fetal kidney and lung and lower expressions in fetal liver and brain. In adult tissues, very abundant in ovary, high levels also observed in liver, kidney, small intestine and colon. Not detected in peripheral blood leukocytes. Detected in breast cancer cells (at protein level).
Evidence on tissue expression from TISSUES for GPC6 Gene
- Nervous system(4.7)
- Heart(2.5)
- Kidney(2.4)
- Intestine(2.3)
- Liver(2.3)
- Skin(2.1)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GPC6 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- skull
Thorax:
- heart
- heart valve
- lung
Abdomen:
- abdominal wall
- intestine
Pelvis:
- pelvis
- testicle
Limb:
- arm
- elbow
- femur
- fibula
- forearm
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- ulna
- upper limb
General:
- blood vessel
- skin
- spinal column
Primer Products
-
OriGene qPCR primer pairs for GPC6
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for GPC6 Gene
Orthologs for GPC6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GPC6 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| GPC6 30 |
|
||||
| Oppossum (Monodelphis domestica) |
Mammalia | GPC6 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GPC6 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gpc6 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | LOC691984 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | GPC6 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GPC6 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gpc6 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | GPC6 (2 of 3) 31 |
|
OneToMany | |
| zgc:171629 30 |
|
||||
| GPC6 (1 of 3) 31 |
|
OneToMany | |||
| GPC6 (3 of 3) 31 |
|
OneToMany | |||
| kny 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | dlp 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | gpn-1 31 |
|
OneToMany |
- Species where no ortholog for GPC6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
Evolution for GPC6 Gene
- ENSEMBL:
- Gene Tree for GPC6 (if available)
- TreeFam:
- Gene Tree for GPC6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GPC6: view image
Paralogs for GPC6 Gene
Variants for GPC6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPC6 Gene
| SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 716177 | Benign: Autosomal recessive omodysplasia; not provided | 93,227,520(+) | G/A | MISSENSE_VARIANT | |
| 721940 | Benign: not provided | 93,545,291(+) | A/G | SYNONYMOUS_VARIANT | |
| 730194 | Likely Benign: not provided | 93,830,410(+) | A/G | SYNONYMOUS_VARIANT | |
| 734629 | Likely Benign: not provided | 94,398,514(+) | T/C | SYNONYMOUS_VARIANT | |
| 739728 | Likely Benign: not provided | 93,830,344(+) | A/G | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.34;
85.34% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GPC6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPC6 Gene
Disorders for GPC6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| omodysplasia 1 |
|
|
| omodysplasia |
|
|
| body dysmorphic disorder |
|
|
| tumoral calcinosis, hyperphosphatemic, familial, 1 |
|
|
| breast cancer |
|
|
Search GPC6 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GPC6_HUMAN- Omodysplasia 1 (OMOD1) [MIM:258315]: A rare autosomal recessive skeletal dysplasia characterized by facial dysmorphism and severe congenital micromelia with shortening and distal tapering of the humeri and femora, to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. {ECO:0000269 PubMed:19481194}. Note=The disease is caused by mutations affecting the gene represented in this entry. Point mutations leading to protein truncation, as well as larger genomic rearrangements resulting in exon deletions, have been found in family segregating omodysplasia type 1. All mutations identified in individuals affected by omodysplasia could lead to the absence of a functional protein, the mutant RNAs being suspected to be nonsense-mediated mRNA decay (NMD) targets. Even if the mRNA escapes NMD and is translated, all mutations are expected to disrupt the three-dimensional protein structure and often to abolish multiple highly conserved cysteine residues.
Additional Disease Information for GPC6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
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No data available for Genatlas for GPC6 Gene
Publications for GPC6 Gene
- GPC6, a novel member of the glypican gene family, encodes a product structurally related to GPC4 and is colocalized with GPC5 on human chromosome 13. (PMID: 10329016) Paine-Saunders S … Saunders S (Genomics 1999) 2 3 4 23
- Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. (PMID: 19481194) Campos-Xavier AB … Bonafé L (American journal of human genetics 2009) 3 4 23
- NFAT promotes carcinoma invasive migration through glypican-6. (PMID: 21871017) Yiu GK … Toker A (The Biochemical journal 2011) 3 4
- Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study. (PMID: 22044751) Foster MC … Fox CS (BMC medical genetics 2011) 3 41
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
ExternalLinks
Products for GPC6 Gene
- View all 13 R&D Systems GPC6 (Glypican 6) Products
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- antibodies-online: Show 52 available GPC6 Antibodies ranked by validation data
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