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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]
PDPN (Podoplanin) is a Protein Coding gene. Diseases associated with PDPN include Lymphangioma and Atypical Neurofibroma. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Angiogenesis (CST). Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity and folic acid transmembrane transporter activity.
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 | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 606.7 | +1.6 | 1598 | 4.7 | TEAD4 PRDM10 KDM1A ZNF692 ZIC2 ZSCAN4 PATZ1 ZNF501 EZH2 ZNF600 | PDPN lnc-LRRC38-6 PRDM2 | |
GH01J013618 | Enhancer | 0.6 | Ensembl ENCODE | 24.5 | +36.4 | 36395 | 2.3 | CREB1 ATF7 USF1 ATF2 JUND NR3C1 | PDPN LRRC38 PRAMEF36P LOC107984919 FJ601684-006 PRDM2 | |
GH01J013604 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE dbSUPER | 14.1 | +21.4 | 21436 | 2.2 | RFX1 CTBP1 FOXA1 FOS KLF1 ZNF217 | FJ601684-006 PDPN LRRC38 PRDM2 LOC107984919 | |
GH01J013617 | Enhancer | 0.4 | Ensembl ENCODE | 23 | +33.7 | 33664 | 2.3 | CEBPB | PDPN LOC107984919 FJ601684-006 PRDM2 | |
GH01J013808 | Enhancer | 0.8 | Ensembl | 9.9 | +225.8 | 225835 | 1.4 | JUND DPF2 SOX6 TCF12 EP300 THRA TARDBP CBX3 EGR1 CEBPB | PDPN KR153194-003 lnc-LRRC38-2 KAZN PRDM2 |
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 | -- |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
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2 | Angiogenesis (CST) | ||
3 | Cytoskeletal Signaling | ||
4 | G beta-gamma signalling through PI3Kgamma |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | ISS | -- |
GO:0001946 | lymphangiogenesis | ISS | -- |
GO:0003333 | amino acid transmembrane transport | IEA | -- |
GO:0006833 | NOT water transport | IEA,ISS | -- |
GO:0006865 | NOT amino acid transport | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Analgesics | Pharma | 13606 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||
SP3: | |||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||
SP8: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PDPN 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PDPN 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pdpn 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pdpn 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BOVAGGRUS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PDPN 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PDPN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PDPN 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709645 | Benign: not provided | 13,583,851(+) | C/T | MISSENSE_VARIANT | |
717608 | Benign: not provided | 13,610,479(+) | C/T | SYNONYMOUS_VARIANT | |
767654 | Benign: not provided | 13,610,458(+) | C/T | SYNONYMOUS_VARIANT | |
rs2486188 | -. - | p.Ala105Glyp.Ala147Gly |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lymphangioma |
|
|
atypical neurofibroma |
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angiosarcoma |
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lip cancer |
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mucinous cystadenocarcinoma of the pancreas |
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