PDPN podoplanin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PDPNprovided by HGNC
Official Full Name: podoplaninprovided by HGNC
Primary source: HGNC:HGNC:29602
See related: Ensembl:ENSG00000162493 MIM:608863; AllianceGenome:HGNC:29602
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: T1A; GP36; GP40; Gp38; OTS8; T1A2; TI1A; D2-40; T1A-2; AGGRUS; HT1A-1; PA2.26
Summary: 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]
Expression: Biased expression in placenta (RPKM 41.5), urinary bladder (RPKM 20.1) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.21

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (13583757..13617957)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (13025717..13059901)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (13910252..13944452)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibiting MMP13 Attenuates Deep Vein Thrombosis in a Mouse Model by Reducing the Expression of Pdpn.
Title: Inhibiting MMP13 Attenuates Deep Vein Thrombosis in a Mouse Model by Reducing the Expression of Pdpn.
Exosome-transmitted podoplanin promotes tumor-associated macrophage-mediated immune tolerance in glioblastoma.
Title: Exosome-transmitted podoplanin promotes tumor-associated macrophage-mediated immune tolerance in glioblastoma.
Expression of Claudin-4 and D2-40 and their significance in prostatic adenocarcinoma.
Title: Expression of Claudin-4 and D2-40 and their significance in prostatic adenocarcinoma.
Pre-operative incisional biopsy of oral squamous cell carcinoma: high podoplanin expression is related to perineural invasion and may be a useful predictor of disease progression.
Title: Pre-operative incisional biopsy of oral squamous cell carcinoma: high podoplanin expression is related to perineural invasion and may be a useful predictor of disease progression.
Podoplanin-positive cells located in the basal layer of Bowen disease include tumor cells with cancer stem cell properties.
Title: Podoplanin-positive cells located in the basal layer of Bowen disease include tumor cells with cancer stem cell properties.
Podoplanin Drives Amoeboid Invasion in Canine and Human Mucosal Melanoma.
Title: Podoplanin Drives Amoeboid Invasion in Canine and Human Mucosal Melanoma.
Co-Expression of Podoplanin and CD44 in Proliferative Vitreoretinopathy Epiretinal Membranes.
Title: Co-Expression of Podoplanin and CD44 in Proliferative Vitreoretinopathy Epiretinal Membranes.
Overexpression of Podoplanin Predicts Poor Prognosis in Patients With Glioma.
Title: Overexpression of Podoplanin Predicts Poor Prognosis in Patients With Glioma.
Podoplanin promotes the carcinogenicity of gastric cancer by activating ezrin and mediating the crosstalk between tumour cells and cancer-associated fibroblasts.
Title: Podoplanin promotes the carcinogenicity of gastric cancer by activating ezrin and mediating the crosstalk between tumour cells and cancer-associated fibroblasts.
Clinical significance of CD34, podoplanin and Ki-67 expression in patients with locally advanced squamous cell cervical carcinoma.
Title: Clinical significance of CD34, podoplanin and Ki-67 expression in patients with locally advanced squamous cell cervical carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (239)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14621 (e-PCR)
- UniSTS:82985

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-68682 (e-PCR)
- UniSTS:95547

SHGC-74244 (e-PCR)
- UniSTS:74302

SHGC-74231 (e-PCR)
- UniSTS:47443

SHGC-74225 (e-PCR)
- UniSTS:36696

SHGC-74232 (e-PCR)
- UniSTS:8061

HSC1IF012 (e-PCR)
- UniSTS:14743

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables amino acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables chemokine binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables folic acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IDA Inferred from Direct Assay more info	PubMed
NOT enables water channel activity	ISS Inferred from Sequence or Structural Similarity more info
NOT enables water transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin-mediated cell contraction	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in amino acid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in folic acid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung development	ISS Inferred from Sequence or Structural Similarity more info
involved_in lymph node development	ISS Inferred from Sequence or Structural Similarity more info
involved_in lymphangiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in lymphatic endothelial cell fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet activation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of extracellular matrix disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of platelet aggregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of platelet aggregation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of platelet aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in regulation of lamellipodium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of myofibroblast contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of substrate adhesion-dependent cell spreading	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in water transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in wound healing, spreading of cells	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in filopodium	ISS Inferred from Sequence or Structural Similarity more info
located_in filopodium membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in lamellipodium	IBA Inferred from Biological aspect of Ancestor more info
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
located_in lamellipodium membrane	IDA Inferred from Direct Assay more info	PubMed
located_in leading edge of lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in ruffle	ISS Inferred from Sequence or Structural Similarity more info
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in tetraspanin-enriched microdomain	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: podoplanin

Names: PA2.26 antigen; T1-alpha; glycoprotein 36; glycoprotein, 36-KD; hT1alpha-1; hT1alpha-2; lung type I cell membrane associated glycoprotein; lung type-I cell membrane-associated glycoprotein (T1A-2)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001006624.2 → NP_001006625.1 podoplanin isoform c

See identical proteins and their annotated locations for NP_001006625.1

Status: REVIEWED

Description

Transcript Variant: This variant (3), contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (c) has a shorter N-terminus when compared to isoform a.

Source sequence(s)

AF390106, AK075327, AK075345, AL354712, AW022996, AY194238, BC014668, BF340649, BQ212176, BQ214601

Consensus CDS

CCDS44060.1

UniProtKB/Swiss-Prot

Q86YL7

Related

ENSP00000427537.1, ENST00000487038.5

Conserved Domains (1) summary

pfam05808
Location:1 → 119

Podoplanin; Podoplanin
NM_001006625.2 → NP_001006626.1 podoplanin isoform d

See identical proteins and their annotated locations for NP_001006626.1

Status: REVIEWED

Description

Transcript Variant: This variant (4), contains a distinct 5' UTR and has multiple differences in the coding region, compared to variant 1. The resulting isoform (d) is shorter and has a shorter N-terminus when compared to isoform a.

Source sequence(s)

AF390106, AK075327, AK075345, AL354712, AW022996, AY194238, BC014668, BF340649, BQ212176, BQ214601

Consensus CDS

CCDS53270.1

UniProtKB/Swiss-Prot

Q86YL7

Related

ENSP00000426063.1, ENST00000475043.5

Conserved Domains (1) summary

pfam05808
Location:1 → 117

Podoplanin
NM_001385053.1 → NP_001371982.1 podoplanin isoform d

Status: REVIEWED

Source sequence(s)

AL354712, AL359771

Consensus CDS

CCDS53270.1

Conserved Domains (1) summary

pfam05808
Location:1 → 117

Podoplanin
NM_006474.5 → NP_006465.4 podoplanin isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AL354712, AL359771, AY194238

Consensus CDS

CCDS30602.2

UniProtKB/Swiss-Prot

A9Z1Y2, B2R6J8, E9PB68, F6QWX5, O60836, O95128, Q7L375, Q86YL7, Q8NBQ8, Q8NBR3

UniProtKB/TrEMBL

H0YA72

Related

ENSP00000478125.1, ENST00000621990.5

Conserved Domains (1) summary

pfam05808
Location:28 → 161

Podoplanin
NM_198389.2 → NP_938203.2 podoplanin isoform b

See identical proteins and their annotated locations for NP_938203.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AF390106, AK075327, AK075345, AW022996, AY194238, BC014668, BE887331, BF340649

Consensus CDS

CCDS41266.1

UniProtKB/Swiss-Prot

Q86YL7

Related

ENSP00000365225.4, ENST00000376057.8

Conserved Domains (1) summary

pfam05808
Location:77 → 235

Podoplanin; Podoplanin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

13583757..13617957

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024451404.2 → XP_024307172.1 podoplanin isoform X1

Conserved Domains (1) summary

pfam05808
Location:1 → 119

Podoplanin; Podoplanin
XM_006710295.2 → XP_006710358.1 podoplanin isoform X1

See identical proteins and their annotated locations for XP_006710358.1

UniProtKB/Swiss-Prot

Q86YL7

Related

ENSP00000365229.4, ENST00000376061.8

Conserved Domains (1) summary

pfam05808
Location:1 → 119

Podoplanin; Podoplanin
XM_047434471.1 → XP_047290427.1 podoplanin isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

13025717..13059901

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333893.1 → XP_054189868.1 podoplanin isoform X1
XM_054333896.1 → XP_054189871.1 podoplanin isoform X2
XM_054333895.1 → XP_054189870.1 podoplanin isoform X1
XM_054333894.1 → XP_054189869.1 podoplanin isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_013317.1: Suppressed sequence

Description

NM_013317.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.