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 co... See more...

Aliases for GPC4 Gene

Aliases for GPC4 Gene

  • Glypican 4 2 3 5
  • Glypican Proteoglycan 4 2 3
  • Glypican-4 3 4
  • K-Glypican 3 4
  • DJ900E8.1 (Glypican 4) 3
  • KPTS 3

External Ids for GPC4 Gene

Previous GeneCards Identifiers for GPC4 Gene

  • GC0XM127080
  • GC0XM129280
  • GC0XM130380
  • GC0XM131140
  • GC0XM132160
  • GC0XM132261
  • GC0XM132434
  • GC0XM121838

Summaries for GPC4 Gene

Entrez Gene Summary for GPC4 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 GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for GPC4 Gene

GPC4 (Glypican 4) is a Protein Coding gene. Diseases associated with GPC4 include Keipert Syndrome and Simpson-Golabi-Behmel Syndrome. Among its related pathways are Signaling by GPCR and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include heparan sulfate proteoglycan binding. An important paralog of this gene is GPC6.

UniProtKB/Swiss-Prot Summary for GPC4 Gene

  • Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity).

Gene Wiki entry for GPC4 Gene

Additional gene information for GPC4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPC4 Gene

Genomics for GPC4 Gene

GeneHancer (GH) Regulatory Elements for GPC4 Gene

Promoters and enhancers for GPC4 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
GH0XJ133411 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 507.3 +0.8 769 5.8 ZNF217 USF1 TEAD4 ZFX ZIC2 POLR2A ZBTB10 ZBTB26 ZNF341 OSR2 GPC4 RF00017-8720
GH0XJ133444 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 12.6 -30.0 -29956 1.1 ZNF217 TRIM28 ZBTB17 ZKSCAN1 ZNF76 ZNF184 ZNF335 ZNF512B ZNF189 HIC1 GPC4 PHF6 RF00017-8722 piR-38580-424
GH0XJ133347 Enhancer 0.6 Ensembl 18.5 +64.7 64688 6.4 WT1 ZNF513 PRDM6 FEZF1 HLF ZNF366 MZF1 SP7 ZNF561 PRDM1 GPC4 RF00017-8719 RF00017-8720
GH0XJ133436 Enhancer 0.5 Ensembl dbSUPER 12.9 -22.3 -22311 1.2 GATA3 FOXA1 GPC4 piR-38580-424 RF00017-8722
GH0XJ133379 Enhancer 0.4 Ensembl 13.2 +34.2 34188 2.6 PAX5 GATA2 TCF12 ZNF770 RUNX3 RF00017-8720 GPC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPC4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPC4

Top Transcription factor binding sites by QIAGEN in the GPC4 gene promoter:
  • AP-1
  • Egr-4
  • GATA-1
  • GATA-2
  • GATA-3
  • Meis-1b
  • NF-1
  • NF-1/L
  • Pbx1a
  • STAT3

Genomic Locations for GPC4 Gene

Genomic Locations for GPC4 Gene
chrX:133,300,103-133,415,489
(GRCh38/hg38)
Size:
115,387 bases
Orientation:
Minus strand
chrX:132,434,131-132,549,518
(GRCh37/hg19)
Size:
115,388 bases
Orientation:
Minus strand

Genomic View for GPC4 Gene

Genes around GPC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPC4 Gene

Proteins for GPC4 Gene

  • Protein details for GPC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75487-GPC4_HUMAN
    Recommended name:
    Glypican-4
    Protein Accession:
    O75487
    Secondary Accessions:
    • B2R6J7
    • B4E2C0
    • Q6ZMA6
    • Q96L43
    • Q9NU08
    • Q9UJN1
    • Q9UPD9

    Protein attributes for GPC4 Gene

    Size:
    556 amino acids
    Molecular mass:
    62412 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GPC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPC4 Gene

Post-translational modifications for GPC4 Gene

  • Glycosylation at Thr375, Thr376, Ser494, Ser498, Ser500, and Asn514
  • Modification sites at PhosphoSitePlus

Other Protein References for GPC4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GPC4 Gene

Domains & Families for GPC4 Gene

Gene Families for GPC4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for GPC4 Gene

Blocks:
  • Glypican
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPC4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51457, highly similar to Glypican-4 (B4E2C0_HUMAN)
  • K-glypican (GPC4_HUMAN)
  • K-glypican (Q86SV6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75487

UniProtKB/Swiss-Prot:

GPC4_HUMAN :
  • Belongs to the glypican family.
Family:
  • Belongs to the glypican family.
genes like me logo Genes that share domains with GPC4: view

Function for GPC4 Gene

Molecular function for GPC4 Gene

UniProtKB/Swiss-Prot Function:
Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity).
GENATLAS Biochemistry:
glypican 4,K glypican,60kDa,putative extracellular proteoglycan,ubiquitously expressed,predominantly in fetal lung and kidney,involved in the control of cell division and growth regulation,juxtaposed to GPC3

Gene Ontology (GO) - Molecular Function for GPC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1904929 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway NAS 24431302
genes like me logo Genes that share ontologies with GPC4: view
genes like me logo Genes that share phenotypes with GPC4: view

Human Phenotype Ontology for GPC4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GPC4 Gene

MGI Knock Outs for GPC4:

Animal Model Products

  • Taconic Biosciences Mouse Models for GPC4

CRISPR Products

miRNA for GPC4 Gene

miRTarBase miRNAs that target GPC4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPC4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for GPC4 Gene

Localization for GPC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPC4 Gene

Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.
[Secreted glypican-4]: Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPC4 gene
Compartment Confidence
plasma membrane 5
extracellular 4
lysosome 4
golgi apparatus 4
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GPC4 Gene

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 TAS --
genes like me logo Genes that share ontologies with GPC4: view

Pathways & Interactions for GPC4 Gene

genes like me logo Genes that share pathways with GPC4: view

SIGNOR curated interactions for GPC4 Gene

Activates:

Gene Ontology (GO) - Biological Process for GPC4 Gene

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 IBA 21873635
genes like me logo Genes that share ontologies with GPC4: view

Drugs & Compounds for GPC4 Gene

(1) Additional Compounds for GPC4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GPC4: view

Transcripts for GPC4 Gene

mRNA/cDNA for GPC4 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPC4

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPC4 Gene

No ASD Table

Relevant External Links for GPC4 Gene

GeneLoc Exon Structure for
GPC4

Expression for GPC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPC4 Gene

mRNA differential expression in normal tissues according to GTEx for GPC4 Gene

This gene is overexpressed in Esophagus - Muscularis (x4.0).

Protein differential expression in normal tissues from HIPED for GPC4 Gene

This gene is overexpressed in Placenta (12.0) and Pancreas (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GPC4 Gene



Protein tissue co-expression partners for GPC4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPC4

SOURCE GeneReport for Unigene cluster for GPC4 Gene:

Hs.58367

Evidence on tissue expression from TISSUES for GPC4 Gene

  • Nervous system(4.7)
  • Skin(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPC4 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
genes like me logo Genes that share expression patterns with GPC4: view

No data available for mRNA Expression by UniProt/SwissProt for GPC4 Gene

Orthologs for GPC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for GPC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPC4 31 30
  • 99.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPC4 31 30
  • 91.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gpc4 17 31 30
  • 90.83 (n)
cow
(Bos Taurus)
Mammalia GPC4 31 30
  • 89.93 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpc4 30
  • 89.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GPC4 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GPC4 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPC4 31 30
  • 74.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPC4 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpc4 30
  • 72.13 (n)
Str.10144 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4720 30
zebrafish
(Danio rerio)
Actinopterygii gpc4 31 30
  • 62.45 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003559 30
  • 51.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta dlp 31 32 30
  • 50.86 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gpn-1 31 30
  • 43.03 (n)
OneToMany
Species where no ortholog for GPC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 GPC4 Gene

ENSEMBL:
Gene Tree for GPC4 (if available)
TreeFam:
Gene Tree for GPC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPC4: view image

Paralogs for GPC4 Gene

Paralogs for GPC4 Gene

(4) SIMAP similar genes for GPC4 Gene using alignment to 3 proteins:

  • GPC4_HUMAN
  • B4E2C0_HUMAN
  • Q86SV6_HUMAN
genes like me logo Genes that share paralogs with GPC4: view

Variants for GPC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPC4 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
710909 Benign: not provided 133,303,076(-) T/TA INTRON_VARIANT
721968 Likely Benign: not provided 133,324,532(-) G/A SYNONYMOUS_VARIANT
743176 Likely Benign: not provided 133,302,957(-) G/A SYNONYMOUS_VARIANT
753984 Likely Benign: not provided 133,305,811(-) T/C SYNONYMOUS_VARIANT
754128 Likely Benign: not provided 133,303,073(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GPC4 Gene

Structural Variations from Database of Genomic Variants (DGV) for GPC4 Gene

Variant ID Type Subtype PubMed ID
dgv2429e212 CNV gain 25503493
esv3574591 CNV loss 25503493
nsv477749 CNV novel sequence insertion 20440878
nsv7100 CNV insertion 18451855

Variation tolerance for GPC4 Gene

Residual Variation Intolerance Score: 22.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.05; 97.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPC4 Gene

Human Gene Mutation Database (HGMD)
GPC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPC4 Gene

Disorders for GPC4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for GPC4 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GPC4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GPC4_HUMAN
  • Keipert syndrome (KPTS) [MIM:301026]: A X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness. {ECO:0000269 PubMed:30982611}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GPC4

genes like me logo Genes that share disorders with GPC4: view

No data available for Genatlas for GPC4 Gene

Publications for GPC4 Gene

  1. 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 4 23 54
  2. 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 23 54
  3. Pathogenic Variants in GPC4 Cause Keipert Syndrome. (PMID: 30982611) Amor DJ … Lockhart PJ (American journal of human genetics 2019) 3 4 54
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for GPC4 Gene

Sources for GPC4 Gene