Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PDPN Gene

Aliases for PDPN Gene

  • Podoplanin 2 3 3 5
  • Lung Type I Cell Membrane Associated Glycoprotein 2 3
  • Glycoprotein 36 3 4
  • PA2.26 Antigen 3 4
  • T1-Alpha 3 4
  • GP36 3 4
  • T1A 3 4
  • Lung Type-I Cell Membrane-Associated Glycoprotein (T1A-2) 3
  • Glycoprotein, 36-KD 3
  • HT1alpha-1 3
  • HT1alpha-2 3
  • AGGRUS 3
  • HT1A-1 3
  • PA2.26 3
  • Aggrus 4
  • T1A-2 3
  • GP40 3
  • Gp38 3
  • OTS8 3
  • T1A2 3
  • TI1A 3
  • Gp36 4

External Ids for PDPN Gene

Previous GeneCards Identifiers for PDPN Gene

  • GC01P013782
  • GC01P013909
  • GC01P012427

Summaries for PDPN Gene

Entrez Gene Summary for PDPN Gene

  • This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for PDPN Gene

PDPN (Podoplanin) is a Protein Coding gene. Diseases associated with PDPN include Lymphangioma and Subglottis Neoplasm. Among its related pathways are Cytoskeletal Signaling and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity and folic acid transmembrane transporter activity.

UniProtKB/Swiss-Prot for PDPN Gene

  • Mediates effects on cell migration and adhesion through its different partners. During development plays a role in blood and lymphatic vessels separation by binding CLEC1B, triggering CLEC1B activation in platelets and leading to platelet activation and/or aggregation (PubMed:14522983, PubMed:15231832, PubMed:17616532, PubMed:18215137, PubMed:17222411). Interaction with CD9, on the contrary, attenuates platelet aggregation induced by PDPN (PubMed:18541721). Through MSN or EZR interaction promotes epithelial-mesenchymal transition (EMT) leading to ERZ phosphorylation and triggering RHOA activation leading to cell migration increase and invasiveness (PubMed:17046996, PubMed:21376833). Interaction with CD44 promotes directional cell migration in epithelial and tumor cells (PubMed:20962267). In lymph nodes (LNs), controls fibroblastic reticular cells (FRCs) adhesion to the extracellular matrix (ECM) and contraction of the actomyosin by maintaining ERM proteins (EZR; MSN and RDX) and MYL9 activation through association with unknown transmembrane proteins. Engagement of CLEC1B by PDPN promotes FRCs relaxation by blocking lateral membrane interactions leading to reduction of ERM proteins (EZR; MSN and RDX) and MYL9 activation (By similarity). Through binding with LGALS8 may participate to connection of the lymphatic endothelium to the surrounding extracellular matrix (PubMed:19268462). In keratinocytes, induces changes in cell morphology showing an elongated shape, numerous membrane protrusions, major reorganization of the actin cytoskeleton, increased motility and decreased cell adhesion (PubMed:15515019). Controls invadopodia stability and maturation leading to efficient degradation of the extracellular matrix (ECM) in tumor cells through modulation of RHOC activity in order to activate ROCK1/ROCK2 and LIMK1/LIMK2 and inactivation of CFL1 (PubMed:25486435). Required for normal lung cell proliferation and alveolus formation at birth (By similarity). Does not function as a water channel or as a regulator of aquaporin-type water channels (PubMed:9651190). Does not have any effect on folic acid or amino acid transport (By similarity).

Gene Wiki entry for PDPN Gene

Additional gene information for PDPN Gene

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

Genomics for PDPN Gene

GeneHancer (GH) Regulatory Elements for PDPN Gene

Promoters and enhancers for PDPN 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
GH01J013583 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 656.8 +1.8 1762 4.4 ZSCAN4 KLF17 KLF14 ZNF2 YY1 ZNF335 ZNF121 GLIS2 ZNF213 ZSCAN5C PDPN RNA5SP41
GH01J013604 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 14.1 +21.8 21842 1 ZNF217 CTBP1 GATA3 RFX1 FOS FOXA1 PDPN LRRC38 PRDM2 RNA5SP41
GH01J013618 Enhancer 0.5 ENCODE 24.5 +36.3 36347 2.2 USF1 CREB1 ATF7 ATF2 PDPN LRRC38 PRAMEF36P RNA5SP41
GH01J013617 Enhancer 0.4 Ensembl ENCODE 20.3 +34.4 34439 0.7 PDPN RNA5SP41
GH01J013592 Enhancer 0.8 Ensembl ENCODE dbSUPER 5.6 +10.3 10337 1.8 EZH2 TRIM28 PDPN RNA5SP41
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDPN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDPN gene promoter:
  • Sp1
  • Nkx2-5
  • Nkx2-2

Genomic Locations for PDPN Gene

Genomic Locations for PDPN Gene
chr1:13,583,465-13,617,957
(GRCh38/hg38)
Size:
34,493 bases
Orientation:
Plus strand
chr1:13,909,960-13,944,452
(GRCh37/hg19)
Size:
34,493 bases
Orientation:
Plus strand

Genomic View for PDPN Gene

Genes around PDPN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PDPN Gene

Proteins for PDPN Gene

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

    Protein Symbol:
    Q86YL7-PDPN_HUMAN
    Recommended name:
    Podoplanin
    Protein Accession:
    Q86YL7
    Secondary Accessions:
    • A9Z1Y2
    • B2R6J8
    • E9PB68
    • F6QWX5
    • O60836
    • O95128
    • Q7L375
    • Q8NBQ8
    • Q8NBR3

    Protein attributes for PDPN Gene

    Size:
    162 amino acids
    Molecular mass:
    16698 Da
    Quaternary structure:
    • Homodimer (PubMed:21376833). Interacts with CLEC1B; the interaction is independent of CLEC1B glycosylation and activates CLEC1B; the interaction is dependent of sialic acid on O-glycans (PubMed:18215137, PubMed:17616532, PubMed:25458834). Interacts with CD9; this interaction is homophilic and attenuates platelet aggregation and pulmonary metastasis induced by PDPN (PubMed:18541721). Interacts with LGALS8; the interaction is glycosylation-dependent; may participate to connection of the lymphatic endothelium to the surrounding extracellular matrix (PubMed:19268462). Interacts with HSPA9 (PubMed:23541579). Interacts (via extracellular domain) with CD44; this interaction is required for PDPN-mediated directional migration and regulation of lamellipodia extension/stabilization during cell spreading and migration (PubMed:20962267). Interacts (via cytoplasmic domain) with MSN and EZR; activates RHOA and promotes epithelial-mesenchymal transition (PubMed:17046996). Interacts with CCL21; relocalized PDPN to the basolateral membrane (PubMed:14978162).
    SequenceCaution:
    • Sequence=AAM73655.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAO22143.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11550.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11557.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG35495.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PDPN Gene

    Alternative splice isoforms for PDPN Gene

neXtProt entry for PDPN Gene

Post-translational modifications for PDPN Gene

  • Extensively O-glycosylated. Contains sialic acid residues. O-glycosylation is necessary for platelet aggregation activity. Disialylated at Thr-52; sialic acid is critical for platelet-aggregating activity and for CLEC1B interaction (PubMed:17222411, PubMed:25458834).
  • The N-terminus is blocked.
  • Cleaved by a metalloprotease within its extracellular (EC) domain, generating a membrane-bound C-terminal fragment (PCTF33) and an extracellular fragment. The resulting membrane-bound C-terminal fragment (PCTF33) is further processed between Val-150 and Val-151 by PSEN1/gamma-secretase generating the intracellular domain of podoplanin (PICD).
  • Glycosylation at isoforms=3, 4, 5, 6120, isoforms=3, 4, 5, 6119, Thr117, isoforms=3, 4, 5, 6110, Ser109, Ser107, isoforms=3, 4, 5, 6106, Ser102, isoforms=3, 4, 5, 6100, isoforms=3, 4, 5, 698, isoforms=3, 4, 5, 696, Thr89, Ser88, isoforms=3, 4, 5, 686, isoforms=3, 4, 5, 685, Thr76, isoforms=3, 4, 5, 666, isoforms=3, 4, 5, 665, Thr55, Thr52, isoforms=3, 435, Thr34, Thr32, and isoforms=3, 425
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PDPN Gene

Domains & Families for PDPN Gene

Gene Families for PDPN Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PDPN Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PDPN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86YL7

UniProtKB/Swiss-Prot:

PDPN_HUMAN :
  • The cytoplasmic domain controls FRC elongation but is dispensable for contraction (By similarity). The cytoplasmic domain is essential for recruitment to invadopodia and ECM degradation (PubMed:25486435).
  • Belongs to the podoplanin family.
Domain:
  • The cytoplasmic domain controls FRC elongation but is dispensable for contraction (By similarity). The cytoplasmic domain is essential for recruitment to invadopodia and ECM degradation (PubMed:25486435).
Family:
  • Belongs to the podoplanin family.
genes like me logo Genes that share domains with PDPN: view

Function for PDPN Gene

Molecular function for PDPN Gene

UniProtKB/Swiss-Prot Function:
Mediates effects on cell migration and adhesion through its different partners. During development plays a role in blood and lymphatic vessels separation by binding CLEC1B, triggering CLEC1B activation in platelets and leading to platelet activation and/or aggregation (PubMed:14522983, PubMed:15231832, PubMed:17616532, PubMed:18215137, PubMed:17222411). Interaction with CD9, on the contrary, attenuates platelet aggregation induced by PDPN (PubMed:18541721). Through MSN or EZR interaction promotes epithelial-mesenchymal transition (EMT) leading to ERZ phosphorylation and triggering RHOA activation leading to cell migration increase and invasiveness (PubMed:17046996, PubMed:21376833). Interaction with CD44 promotes directional cell migration in epithelial and tumor cells (PubMed:20962267). In lymph nodes (LNs), controls fibroblastic reticular cells (FRCs) adhesion to the extracellular matrix (ECM) and contraction of the actomyosin by maintaining ERM proteins (EZR; MSN and RDX) and MYL9 activation through association with unknown transmembrane proteins. Engagement of CLEC1B by PDPN promotes FRCs relaxation by blocking lateral membrane interactions leading to reduction of ERM proteins (EZR; MSN and RDX) and MYL9 activation (By similarity). Through binding with LGALS8 may participate to connection of the lymphatic endothelium to the surrounding extracellular matrix (PubMed:19268462). In keratinocytes, induces changes in cell morphology showing an elongated shape, numerous membrane protrusions, major reorganization of the actin cytoskeleton, increased motility and decreased cell adhesion (PubMed:15515019). Controls invadopodia stability and maturation leading to efficient degradation of the extracellular matrix (ECM) in tumor cells through modulation of RHOC activity in order to activate ROCK1/ROCK2 and LIMK1/LIMK2 and inactivation of CFL1 (PubMed:25486435). Required for normal lung cell proliferation and alveolus formation at birth (By similarity). Does not function as a water channel or as a regulator of aquaporin-type water channels (PubMed:9651190). Does not have any effect on folic acid or amino acid transport (By similarity).

Phenotypes From GWAS Catalog for PDPN Gene

Gene Ontology (GO) - Molecular Function for PDPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IDA 18215137
GO:0005372 NOT water transmembrane transporter activity ISS --
GO:0005515 protein binding IPI 17046996
GO:0008517 NOT folic acid transmembrane transporter activity ISS --
GO:0015171 NOT amino acid transmembrane transporter activity ISS --
genes like me logo Genes that share ontologies with PDPN: view
genes like me logo Genes that share phenotypes with PDPN: view

Animal Models for PDPN Gene

MGI Knock Outs for PDPN:
  • Pdpn Pdpn<tm1Mcws>
  • Pdpn Pdpn<tm1Acgg>
  • Pdpn Pdpn<tm1Bwd>
  • Pdpn Pdpn<tm1(cre)Mlkn>
  • Pdpn Pdpn<tm1b(EUCOMM)Wtsi>

Animal Model Products

Clone Products

  • Addgene plasmids for PDPN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PDPN Gene

Localization for PDPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDPN Gene

Podoplanin: Membrane; Single-pass type I membrane protein. Cell projection, lamellipodium membrane; Single-pass type I membrane protein. Cell projection, filopodium membrane; Single-pass type I membrane protein. Cell projection, microvillus membrane; Single-pass type I membrane protein. Cell projection, ruffle membrane; Single-pass type I membrane protein. Membrane raft. Apical cell membrane. Basolateral cell membrane. Cell projection, invadopodium. Note=Localized to actin-rich microvilli and plasma membrane projections such as filopodia, lamellipodia and ruffles (By similarity). Association to the lipid rafts is required for PDPN-induced epithelial to mesenchymal transition (EMT) (PubMed:21376833). Colocalizes with CD9 in tetraspanin microdomains (PubMed:18541721). Localized at invadopodium adhesion rings in tumor cell. Association to the lipid rafts is essential for PDPN recruitment to invadopodia and ECM degradation (PubMed:25486435). {ECO:0000250 UniProtKB:Q62011, ECO:0000269 PubMed:18541721, ECO:0000269 PubMed:21376833, ECO:0000269 PubMed:25486435}.
29kDa cytosolic podoplanin intracellular domain: Cytoplasm, cytosol.

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 PDPN gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PDPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,IDA 24275092
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10393083
genes like me logo Genes that share ontologies with PDPN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PDPN Gene

Pathways & Interactions for PDPN Gene

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

Pathways by source for PDPN Gene

2 Cell Signaling Technology pathways for PDPN Gene

Gene Ontology (GO) - Biological Process for PDPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis ISS --
GO:0001946 lymphangiogenesis ISS --
GO:0006833 NOT water transport ISS --
GO:0006865 NOT amino acid transport ISS --
GO:0007266 Rho protein signal transduction IMP 25486435
genes like me logo Genes that share ontologies with PDPN: view

No data available for SIGNOR curated interactions for PDPN Gene

Drugs & Compounds for PDPN Gene

(2) Drugs for PDPN Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Analgesics Pharma 12601

(7) Additional Compounds for PDPN Gene - From: Novoseek

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

Transcripts for PDPN Gene

Unigene Clusters for PDPN Gene

Podoplanin:
Representative Sequences:

Clone Products

  • Addgene plasmids for PDPN

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

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1: - - - - -
SP2: - - - - -
SP3:
SP4: - - -
SP5: - -
SP6: - - - -
SP7: - - -
SP8: -

Relevant External Links for PDPN Gene

GeneLoc Exon Structure for
PDPN
ECgene alternative splicing isoforms for
PDPN

Expression for PDPN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDPN Gene

This gene is overexpressed in Fetal Brain (21.6), Prostate (17.6), Testis (15.9), and Oral epithelium (6.5).

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



NURSA nuclear receptor signaling pathways regulating expression of PDPN Gene:

PDPN

SOURCE GeneReport for Unigene cluster for PDPN Gene:

Hs.468675

mRNA Expression by UniProt/SwissProt for PDPN Gene:

Q86YL7-PDPN_HUMAN
Tissue specificity: Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas.

Evidence on tissue expression from TISSUES for PDPN Gene

  • Nervous system(4.8)
  • Intestine(3.2)
  • Lymph node(3.2)
  • Heart(2.9)
  • Lung(2.9)
  • Gall bladder(2.7)
  • Muscle(2.6)
  • Kidney(2.3)
  • Skin(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PDPN: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDPN Gene

Orthologs for PDPN Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDPN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDPN 34 33
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PDPN 34 33
  • 77.57 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdpn 33
  • 64.69 (n)
mouse
(Mus musculus)
Mammalia Pdpn 16 34 33
  • 63.99 (n)
cow
(Bos Taurus)
Mammalia BOVAGGRUS 34
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDPN 34
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDPN 34
  • 37 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDPN 34
  • 37 (a)
OneToOne
Species where no ortholog for PDPN 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PDPN Gene

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

Paralogs for PDPN Gene

No data available for Paralogs for PDPN Gene

Variants for PDPN Gene

Sequence variations from dbSNP and Humsavar for PDPN Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000053183 -- 13,587,118(+) C/T intron_variant
rs1000109461 -- 13,586,071(+) G/A intron_variant
rs1000166979 -- 13,590,038(+) G/A intron_variant
rs1000247617 -- 13,598,072(+) G/A intron_variant
rs1000279498 -- 13,582,284(+) A/G upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2744064 CNV deletion 23290073
esv3306243 CNV mobile element insertion 20981092
esv3372731 CNV insertion 20981092
esv3892081 CNV loss 25118596
nsv1113080 CNV deletion 24896259
nsv1144354 CNV deletion 24896259
nsv460483 CNV loss 19166990
nsv545567 CNV gain 21841781
nsv545568 CNV loss 21841781
nsv833092 CNV loss 17160897

Variation tolerance for PDPN Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDPN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDPN

SNP Genotyping and Copy Number Assay Products

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

Disorders for PDPN Gene

MalaCards: The human disease database

(32) MalaCards diseases for PDPN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lymphangioma
  • benign lymphangioma
subglottis neoplasm
  • subglottic tumor
mucinous cystadenocarcinoma of the pancreas
  • pancreatic mucinous cystadenocarcinoma
seminoma
  • seminoma, pure
hemangioma
- elite association - COSMIC cancer census association via MalaCards
Search PDPN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PDPN

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

No data available for UniProtKB/Swiss-Prot and Genatlas for PDPN Gene

Publications for PDPN Gene

  1. Cloning and characterization of gp36, a human mucin-type glycoprotein preferentially expressed in vascular endothelium. (PMID: 10393083) Zimmer G … Herrler G (The Biochemical journal 1999) 2 3 4 22 58
  2. Evidence against a role of mouse, rat, and two cloned human t1alpha isoforms as a water channel or a regulator of aquaporin-type water channels. (PMID: 9651190) Ma T … Verkman AS (American journal of respiratory cell and molecular biology 1998) 2 3 4 22 58
  3. Galectin-8 interacts with podoplanin and modulates lymphatic endothelial cell functions. (PMID: 19268462) Cueni LN … Detmar M (Experimental cell research 2009) 3 4 22 58
  4. Renal cells activate the platelet receptor CLEC-2 through podoplanin. (PMID: 18215137) Christou CM … O'Callaghan CA (The Biochemical journal 2008) 3 4 22 58
  5. Functional glycosylation of human podoplanin: glycan structure of platelet aggregation-inducing factor. (PMID: 17222411) Kaneko MK … Narimatsu H (FEBS letters 2007) 3 4 22 58

Products for PDPN Gene

  • Addgene plasmids for PDPN

Sources for PDPN Gene

Content
Loading form....