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Aliases for GPC6 Gene

Aliases for GPC6 Gene

  • Glypican 6 2 3 5
  • Glypican Proteoglycan 6 2 3
  • OMIMD1 3

External Ids for GPC6 Gene

Previous GeneCards Identifiers for GPC6 Gene

  • GC13P092238
  • GC13P088266
  • GC13P092715
  • GC13P091577
  • GC13P092677
  • GC13P093879
  • GC13P074476

Summaries for GPC6 Gene

Entrez Gene Summary 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. [provided by RefSeq, Jan 2009]

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 p70S6K Signaling and Glycosaminoglycan metabolism. GO annotations related to this gene include heparan sulfate proteoglycan binding. An important paralog of this gene is GPC4.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for GPC6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPC6 Gene

Genomics for GPC6 Gene

Regulatory Elements for GPC6 Gene

Enhancers for GPC6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GPC6 on UCSC Golden Path with GeneCards custom track

Promoters for GPC6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GPC6 on UCSC Golden Path with GeneCards custom track

Genomic Location for GPC6 Gene

93,226,825 bp from pter
94,408,020 bp from pter
1,181,196 bases
Plus strand

Genomic View for GPC6 Gene

Genes around GPC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPC6 Gene

Proteins for GPC6 Gene

  • Protein details for GPC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K279
    • Q96SG5
    • Q96SG8
    • Q9H1P4

    Protein attributes for GPC6 Gene

    555 amino acids
    Molecular mass:
    62736 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GPC6 Gene

Proteomics data for GPC6 Gene at MOPED

Post-translational modifications for GPC6 Gene

  • Glycosylation at Thr 374
  • Modification sites at PhosphoSitePlus

Other Protein References for GPC6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GPC6 Gene

Domains & Families for GPC6 Gene

Gene Families for GPC6 Gene

Protein Domains for GPC6 Gene


Suggested Antigen Peptide Sequences for GPC6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glypican family.
  • Belongs to the glypican family.
genes like me logo Genes that share domains with GPC6: view

Function for GPC6 Gene

Molecular function for GPC6 Gene

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
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.
genes like me logo Genes that share phenotypes with GPC6: view

Human Phenotype Ontology for GPC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for GPC6

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , 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.

Subcellular locations from

Jensen Localization Image for GPC6 Gene COMPARTMENTS Subcellular localization image for GPC6 gene
Compartment Confidence
golgi apparatus 5
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5
extracellular 4
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GPC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
genes like me logo Genes that share ontologies with GPC6: view

Pathways & Interactions for GPC6 Gene

genes like me logo Genes that share pathways with GPC6: view

Interacting Proteins for GPC6 Gene

Gene Ontology (GO) - Biological Process for GPC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0030204 chondroitin sulfate metabolic process TAS --
genes like me logo Genes that share ontologies with GPC6: view

No data available for SIGNOR curated interactions for GPC6 Gene

Drugs & Compounds for GPC6 Gene

No Compound Related Data Available

Transcripts for GPC6 Gene

mRNA/cDNA for GPC6 Gene

Unigene Clusters for GPC6 Gene

Glypican 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GPC6 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: - -

Relevant External Links for GPC6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GPC6 Gene

mRNA expression in normal human tissues for GPC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GPC6 Gene

This gene is overexpressed in Artery - Tibial (x5.1).

Protein differential expression in normal tissues from HIPED for GPC6 Gene

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, PaxDb, MOPED, and MaxQB for GPC6 Gene

SOURCE GeneReport for Unigene cluster for GPC6 Gene Hs.444329

mRNA Expression by UniProt/SwissProt for GPC6 Gene

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).
genes like me logo Genes that share expression patterns with GPC6: view

Primer 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.

Orthologs for GPC6 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia GPC6 35
  • 91.29 (n)
  • 98.56 (a)
-- 36
  • 97 (a)
-- 36
  • 98 (a)
(Mus musculus)
Mammalia Gpc6 35
  • 88.65 (n)
  • 96.76 (a)
Gpc6 16
Gpc6 36
  • 95 (a)
(Pan troglodytes)
Mammalia GPC6 35
  • 99.7 (n)
  • 100 (a)
GPC6 36
  • 100 (a)
(Rattus norvegicus)
Mammalia LOC691984 35
  • 87.87 (n)
  • 96.4 (a)
(Bos Taurus)
Mammalia GPC6 36
  • 61 (a)
(Monodelphis domestica)
Mammalia GPC6 36
  • 93 (a)
(Ornithorhynchus anatinus)
Mammalia GPC6 36
  • 89 (a)
(Gallus gallus)
Aves GPC6 35
  • 81.88 (n)
  • 92.09 (a)
GPC6 36
  • 92 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 90 (a)
-- 36
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gpc6 35
  • 76.23 (n)
  • 82.27 (a)
(Danio rerio)
Actinopterygii kny 35
zgc:171629 35
  • 68.45 (n)
  • 70.88 (a)
GPC6 (1 of 3) 36
  • 62 (a)
GPC6 (2 of 3) 36
  • 77 (a)
GPC6 (3 of 3) 36
  • 62 (a)
fruit fly
(Drosophila melanogaster)
Insecta dlp 37
  • 43 (a)
dlp 36
  • 27 (a)
(Caenorhabditis elegans)
Secernentea gpn-1 36
  • 22 (a)
Species with no ortholog for GPC6:
  • 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)

Evolution for GPC6 Gene

Gene Tree for GPC6 (if available)
Gene Tree for GPC6 (if available)

Paralogs for GPC6 Gene

Paralogs for GPC6 Gene

(3) SIMAP similar genes for GPC6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GPC6: view

Variants for GPC6 Gene

Sequence variations from dbSNP and Humsavar for GPC6 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1535692 - 94,382,495(+) AGAGC(A/G)TGACA reference, missense
rs15600 -- 94,406,940(-) AGCTA(A/C)ATTGT utr-variant-3-prime
rs140857 -- 93,293,513(-) TTACA(-/ACA)TTTTC intron-variant
rs218881 -- 93,542,238(-) ccata(C/T)gtaga intron-variant
rs218882 -- 93,542,177(-) atgga(A/T)taaag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GPC6 Gene

Variant ID Type Subtype PubMed ID
esv2558321 CNV Deletion 19546169
esv2747828 CNV Deletion 23290073
esv2747829 CNV Deletion 23290073
nsv64659 CNV Loss 16902084
esv2747831 CNV Deletion 23290073
esv2751156 CNV Loss 17911159
nsv900919 CNV Loss 21882294
esv2747832 CNV Deletion 23290073
esv2747833 CNV Deletion 23290073
esv2667781 CNV Deletion 23128226
nsv507724 CNV Insertion 20534489
esv2530447 CNV Deletion 19546169
dgv1780n71 CNV Loss 21882294
nsv900922 CNV Loss 21882294
esv269454 CNV Insertion 20981092
esv273421 CNV Insertion 20981092
esv2663873 CNV Deletion 23128226
esv2747834 CNV Deletion 23290073
esv273984 CNV Insertion 20981092
esv272024 CNV Insertion 20981092
nsv523214 CNV Loss 19592680
nsv818989 CNV Gain 17921354
esv2667490 CNV Deletion 23128226
esv1183301 CNV Insertion 17803354
esv9361 CNV Gain 19470904
esv267989 CNV Insertion 20981092
dgv584e1 CNV Complex 17122850
nsv832683 CNV Gain+Loss 17160897
nsv1129 CNV Loss 18451855
esv2747835 CNV Deletion 23290073
esv2747836 CNV Deletion 23290073
nsv832684 CNV Loss 17160897
esv2747837 CNV Deletion 23290073
esv2102591 CNV Deletion 18987734
esv3143 CNV Deletion 18987735
nsv64776 CNV Loss 16902084
esv2747838 CNV Deletion 23290073
nsv1130 CNV Loss 18451855
esv1057463 CNV Insertion 17803354
esv259593 OTHER Complex 20981092
nsv507725 CNV Insertion 20534489
nsv900923 CNV Loss 21882294
nsv900924 CNV Gain 21882294
esv2747839 CNV Deletion 23290073
nsv526048 CNV Loss 19592680
esv2747840 CNV Deletion 23290073
esv2677275 CNV Deletion 23128226
esv2435780 CNV Deletion 19546169
esv34004 CNV Loss 18971310
nsv1131 CNV Insertion 18451855
esv2661209 CNV Deletion 23128226
esv2462615 CNV Deletion 19546169
esv2747842 CNV Deletion 23290073
esv1437424 CNV Deletion 17803354

Variation tolerance for GPC6 Gene

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)

Relevant External Links for GPC6 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPC6 Gene

Disorders for GPC6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GPC6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
omodysplasia 1
  • micromelic dysplasia congenita with dislocation of radius
  • omodysplasia 2
  • atelosteogenesis, type 1
body dysmorphic disorder
  • body dysmorphia
simpson-golabi-behmel syndrome
  • bulldog syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GPC6 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for GPC6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GPC6: view

No data available for Genatlas for GPC6 Gene

Publications for GPC6 Gene

  1. 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 67
  2. Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. (PMID: 19481194) Campos-Xavier A.B. … Bonafe L. (Am. J. Hum. Genet. 2009) 3 23
  3. Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. (PMID: 25189868) Sung Y.J. … Rao D.C. (Am. J. Hypertens. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. (PMID: 23535033) Sherva R. … Green R.C. (Alzheimers Dement 2014) 3

Products for GPC6 Gene

Sources for GPC6 Gene