PDGFD Gene (Protein Coding)

Platelet Derived Growth Factor D

GC11M103907
GIFtS:
45
The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family me... See more...

Aliases for PDGFD Gene

Aliases for PDGFD Gene

  • Platelet Derived Growth Factor D 2 3 5
  • SCDGF-B 2 3 4
  • IEGF 2 3 4
  • Spinal Cord-Derived Growth Factor B 3 4
  • Platelet-Derived Growth Factor D 3 4
  • Iris-Expressed Growth Factor 3 4
  • MSTP036 2 3
  • SCDGFB 3 4
  • PDGF-D 3 4
  • Spinal Cord Derived Growth Factor B 2
  • PDGFD 5

External Ids for PDGFD Gene

Previous GeneCards Identifiers for PDGFD Gene

  • GC11M103315
  • GC11M103283
  • GC11M103777
  • GC11M099706

Summaries for PDGFD Gene

Entrez Gene Summary for PDGFD Gene

  • The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PDGFD Gene

PDGFD (Platelet Derived Growth Factor D) is a Protein Coding gene. Diseases associated with PDGFD include Obstructive Nephropathy and Familiar Ovarian Carcinoma. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include growth factor activity and platelet-derived growth factor receptor binding. An important paralog of this gene is PDGFC.

UniProtKB/Swiss-Prot Summary for PDGFD Gene

  • Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Plays an important role in wound healing. Induces macrophage recruitment, increased interstitial pressure, and blood vessel maturation during angiogenesis. Can initiate events that lead to a mesangial proliferative glomerulonephritis, including influx of monocytes and macrophages and production of extracellular matrix (By similarity).

Tocris Summary for PDGFD Gene

  • Platelet-derived growth factor receptors (PDGFRs) are catalytic receptors that have intracellular tyrosine kinase activity. They have roles in the regulation of many biological processes including embryonic development, angiogenesis, cell proliferation and differentiation.

Gene Wiki entry for PDGFD Gene

Additional gene information for PDGFD Gene

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

Genomics for PDGFD Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PDGFD 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
GH11J104162 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 255.1 +1.0 978 3.2 ZNF600 ZNF10 POLR2A ZIC2 ZBTB10 MXD4 FEZF1 ZNF341 CTCF KLF9 PDGFD CASP12 DDI1
GH11J103958 Enhancer 0.9 Ensembl ENCODE 11 +205.2 205170 1.2 BCLAF1 BCL11A TRIM22 EBF1 BHLHE40 BATF ELF1 ZNF24 JUND IKZF1 DDI1 PDGFD piR-61514-045 DYNC2H1
GH11J103987 Enhancer 0.6 Ensembl ENCODE 10.7 +176.1 176086 2 MAFF MAFK CTCF FOS CEBPB ENSG00000255548 DDI1 PDGFD piR-61514-045 DYNC2H1
GH11J103700 Enhancer 0.6 FANTOM5 Ensembl ENCODE 10.3 +463.5 463483 0.6 CEBPB PDGFD lnc-DYNC2H1-2 LOC105369463 HSALNG0086841 HSALNG0086837-001 ENSG00000254987 DDI1 DYNC2H1
GH11J104074 Enhancer 0.5 Ensembl ENCODE 11.1 +89.3 89256 3.4 SPI1 ZSCAN29 DDI1 PDGFD CASP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDGFD on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the PDGFD gene promoter:
  • aMEF-2
  • AREB6
  • En-1
  • MEF-2A
  • MRF-2
  • Msx-1
  • NF-1
  • NF-1/L
  • Nkx2-5
  • TBP

Genomic Locations for PDGFD Gene

Latest Assembly
chr11:103,907,189-104,164,379
(GRCh38/hg38)
Size:
257,191 bases
Orientation:
Minus strand

Previous Assembly
chr11:103,777,917-104,034,875
(GRCh37/hg19 by Entrez Gene)
Size:
256,959 bases
Orientation:
Minus strand

chr11:103,777,914-104,035,107
(GRCh37/hg19 by Ensembl)
Size:
257,194 bases
Orientation:
Minus strand

Genomic View for PDGFD Gene

Genes around PDGFD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PDGFD Gene

Proteins for PDGFD Gene

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

    Protein Symbol:
    Q9GZP0-PDGFD_HUMAN
    Recommended name:
    Platelet-derived growth factor D
    Protein Accession:
    Q9GZP0
    Secondary Accessions:
    • A8K9T6
    • Q9BWV5

    Protein attributes for PDGFD Gene

    Size:
    370 amino acids
    Molecular mass:
    42848 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with PDGFRB homodimers, and with heterodimers formed by PDGFRA and PDGFRB.

    Alternative splice isoforms for PDGFD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDGFD Gene

Protein Expression for PDGFD Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PDGFD Gene

  • Activated by proteolytic cleavage. Proteolytic removal of the N-terminal CUB domain releasing the core domain is necessary for unmasking the receptor-binding epitopes of the core domain. Cleavage after Arg-247 or Arg-249 by urokinase plasminogen activator gives rise to the active form.
  • Glycosylation at Asn276
  • Ubiquitination at Lys160
  • Modification sites at PhosphoSitePlus

Other Protein References for PDGFD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PDGFD Gene

Domains & Families for PDGFD Gene

Gene Families for PDGFD Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for PDGFD Gene

InterPro:
Blocks:
  • CUB domain
  • Platelet-derived growth factor (PDGF)

Suggested Antigen Peptide Sequences for PDGFD Gene

GenScript: Design optimal peptide antigens:
  • Spinal cord-derived growth factor B (PDGFD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9GZP0

UniProtKB/Swiss-Prot:

PDGFD_HUMAN :
  • Belongs to the PDGF/VEGF growth factor family.
Family:
  • Belongs to the PDGF/VEGF growth factor family.
genes like me logo Genes that share domains with PDGFD: view

Function for PDGFD Gene

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  6. Cell Lines for research

Molecular function for PDGFD Gene

UniProtKB/Swiss-Prot Function:
Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Plays an important role in wound healing. Induces macrophage recruitment, increased interstitial pressure, and blood vessel maturation during angiogenesis. Can initiate events that lead to a mesangial proliferative glomerulonephritis, including influx of monocytes and macrophages and production of extracellular matrix (By similarity).

Phenotypes From GWAS Catalog for PDGFD Gene

Gene Ontology (GO) - Molecular Function for PDGFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005161 platelet-derived growth factor receptor binding IEA,IBA 21873635
GO:0008083 growth factor activity IEA --
GO:0070851 growth factor receptor binding IBA 21873635
genes like me logo Genes that share ontologies with PDGFD: view
genes like me logo Genes that share phenotypes with PDGFD: view

Animal Models for PDGFD Gene

MGI Knock Outs for PDGFD:

Animal Models for research

  • Taconic Biosciences Mouse Models for PDGFD

miRNA for PDGFD Gene

miRTarBase miRNAs that target PDGFD

Inhibitory RNAs for research

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

Clone products for research

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

Localization for PDGFD Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDGFD Gene

Secreted. Note=Released by platelets upon wounding.

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 PDGFD gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDGFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PDGFD: view

Pathways & Interactions for PDGFD Gene

PathCards logo

SuperPathways for PDGFD Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
2 GPCR Pathway
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
3 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
4 Nanog in Mammalian ESC Pluripotency
GSK3 Signaling
.61
Nanog in Mammalian ESC Pluripotency
.61
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
5 CREB Pathway
CREB Pathway
.68
IP3 Pathway
.68
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
genes like me logo Genes that share pathways with PDGFD: view

Pathways by source for PDGFD Gene

1 BioSystems pathway for PDGFD Gene
2 Reactome pathways for PDGFD Gene
1 PharmGKB pathway for PDGFD Gene
2 GeneGo (Thomson Reuters) pathways for PDGFD Gene
  • Cytoskeleton remodeling_Role of PDGFs in cell migration
  • Development PDGF signaling via MAPK cascades
59 Qiagen pathways for PDGFD Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

Gene Ontology (GO) - Biological Process for PDGFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0008284 positive regulation of cell proliferation IBA 21873635
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IBA 21873635
GO:0030335 positive regulation of cell migration IBA 21873635
GO:0031954 positive regulation of protein autophosphorylation IBA 21873635
genes like me logo Genes that share ontologies with PDGFD: view

No data available for SIGNOR curated interactions for PDGFD Gene

Drugs & Compounds for PDGFD Gene

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(5) Drugs for PDGFD Gene - From: DrugBank, DGIdb, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sunitinib Approved, Investigational Pharma inhibitor VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Potent VEGFR, PDGFRbeta and KIT inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 556
CR002 Investigational Pharma Target 0
Tandutinib Investigational Pharma Target Kinase Inhibitors 0
DMPQ dihydrochloride Pharma Potent, selective inhibitor of PDGFRbeta 0
Toceranib Pharma c-Kit/VEGFR/PDGFR inhibtor, Potent PDGFR and VEGFR inhibitor 0

(1) Additional Compounds for PDGFD Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SU 6668
252916-29-3

(3) Tocris Compounds for PDGFD Gene

Compound Action Cas Number
DMPQ dihydrochloride Potent, selective inhibitor of PDGFRbeta 1123491-15-5
SU 6668 PDGFR, VEGFR and FGFR inhibitor 252916-29-3
Toceranib Potent PDGFR and VEGFR inhibitor 356068-94-5
genes like me logo Genes that share compounds with PDGFD: view

Transcripts for PDGFD Gene

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mRNA/cDNA for PDGFD Gene

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

Inhibitory RNAs for research

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

Clone products for research

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -

Relevant External Links for PDGFD Gene

GeneLoc Exon Structure for
PDGFD

Expression for PDGFD Gene

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

mRNA expression in normal human tissues for PDGFD Gene
mRNA expression by GTEx for PDGFD GenemRNA expression by BioGPS for PDGFD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (x7.4) and Artery - Aorta (x6.5).

Protein differential expression in normal tissues from HIPED for PDGFD Gene

This gene is overexpressed in Serum (42.0) and Peripheral blood mononuclear cells (16.5).

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



Protein tissue co-expression partners for PDGFD Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for PDGFD Gene:

Hs.352298

mRNA Expression by UniProt/SwissProt for PDGFD Gene:

Q9GZP0-PDGFD_HUMAN
Tissue specificity: Expressed at high levels in the heart, pancreas, adrenal gland and ovary and at low levels in placenta, liver, kidney, prostate, testis, small intestine, spleen and colon. In the kidney, expressed by the visceral epithelial cells of the glomeruli. A widespread expression is also seen in the medial smooth muscle cells of arteries and arterioles, as well as in smooth muscle cells of vasa rectae in the medullary area. Expressed in the adventitial connective tissue surrounding the suprarenal artery. In chronic obstructive nephropathy, a persistent expression is seen in glomerular visceral epithelial cells and vascular smooth muscle cells, as well as de novo expression by periglomerular interstitial cells and by some neointimal cells of atherosclerotic vessels. Expression in normal prostate is seen preferentially in the mesenchyme of the gland while expression is increased and more profuse in prostate carcinoma. Expressed in many ovarian, lung, renal and brain cancer-derived cell lines.

Evidence on tissue expression from TISSUES for PDGFD Gene

  • Eye(4.3)
  • Heart(2.5)
  • Muscle(2.5)
  • Adrenal gland(2.3)
  • Blood(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with PDGFD: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PDGFD Gene

Orthologs for PDGFD Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDGFD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PDGFD 29 30
  • 99.55 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PDGFD 29 30
  • 88.92 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PDGFD 29 30
  • 87.93 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pdgfd 29
  • 86.04 (n)
Mouse
(Mus musculus)
 Mammalia Pdgfd 29 16 30
  • 85.86 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PDGFD 30
  • 84 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PDGFD 30
  • 84 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PDGFD 29 30
  • 79.14 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PDGFD 30
  • 58 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100492060 29
  • 70.42 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC100535718 29
  • 66.15 (n)
CABZ01114098.1 30
  • 60 (a)
 OneToOne
Species where no ortholog for PDGFD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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)
  • Worm (Caenorhabditis elegans)

Evolution for PDGFD Gene

ENSEMBL:
Gene Tree for PDGFD (if available)
TreeFam:
Gene Tree for PDGFD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDGFD: view image
Alliance of Genome Resources:
Additional Orthologs for PDGFD

Paralogs for PDGFD Gene

Paralogs for PDGFD Gene

(3) SIMAP similar genes for PDGFD Gene using alignment to 2 proteins:

  • PDGFD_HUMAN
  • H0YD37_HUMAN
genes like me logo Genes that share paralogs with PDGFD: view

Variants for PDGFD Gene

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

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs116423827 Benign: not provided 104,037,789(-) G/A
NM_001001711.3(DDI1):c.967G>A (p.Asp323Asn) 		MISSENSE_VARIANT,INTRON
rs138352725 Benign: not provided 104,036,945(-) C/T
NM_001001711.3(DDI1):c.123C>T (p.Pro41=) 		SYNONYMOUS_VARIANT,INTRON
rs260807 Benign: not provided 104,037,356(-) C/T
NM_001001711.3(DDI1):c.534C>T (p.Thr178=) 		SYNONYMOUS_VARIANT,INTRON
rs769976508 Uncertain Significance: Premature ovarian insufficiency 104,037,513(-) A/ATAGAAGAGGCCCC
NM_001001711.3(DDI1):c.692_714dup (p.Gly239Ter) 		NONSENSE,INTRON
rs77123941 Benign: not provided 104,037,287(-) C/T
NM_001001711.3(DDI1):c.465C>T (p.His155=) 		SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PDGFD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2143n54 CNV loss 21841781
dgv2144n54 CNV loss 21841781
dgv2145n54 CNV loss 21841781
dgv2146n54 CNV loss 21841781
dgv2147n54 CNV loss 21841781
dgv237n67 CNV loss 20364138
dgv713n106 CNV deletion 24896259
dgv714n106 CNV deletion 24896259
dgv71e215 CNV deletion 23714750
esv1297071 CNV insertion 17803354
esv1417082 CNV deletion 17803354
esv2037427 CNV deletion 18987734
esv2205640 CNV deletion 18987734
esv22062 CNV loss 19812545
esv2477876 CNV insertion 19546169
esv2597532 CNV deletion 19546169
esv2666036 CNV deletion 23128226
esv2666677 CNV deletion 23128226
esv2671461 CNV deletion 23128226
esv2676733 CNV deletion 23128226
esv2745011 CNV deletion 23290073
esv2745012 CNV deletion 23290073
esv2745013 CNV deletion 23290073
esv2750977 CNV gain 17911159
esv2750978 CNV gain 17911159
esv2760322 CNV loss 21179565
esv29047 CNV gain 19812545
esv3147 CNV loss 18987735
esv3255384 CNV deletion 24192839
esv3306145 CNV mobile element insertion 20981092
esv3306917 CNV mobile element insertion 20981092
esv3309150 CNV mobile element insertion 20981092
esv3327429 CNV insertion 20981092
esv3375835 CNV insertion 20981092
esv3440419 CNV insertion 20981092
esv3548276 CNV deletion 23714750
esv3627567 CNV loss 21293372
esv3627568 CNV gain 21293372
esv3627571 CNV loss 21293372
esv3627575 CNV loss 21293372
esv3736 CNV loss 18987735
esv9653 CNV loss 19470904
esv991768 CNV deletion 20482838
nsv1043976 CNV gain 25217958
nsv1052674 CNV loss 25217958
nsv1069619 CNV deletion 25765185
nsv1070984 CNV deletion 25765185
nsv1113431 CNV deletion 24896259
nsv1143550 CNV deletion 24896259
nsv1152736 CNV deletion 26484159
nsv38514 CNV deletion 16902084
nsv519705 CNV loss 19592680
nsv526709 CNV loss 19592680
nsv819791 CNV loss 19587683
nsv826068 CNV loss 20364138
nsv957226 CNV deletion 24416366
nsv958608 CNV deletion 24416366

Variation tolerance for PDGFD Gene

Residual Variation Intolerance Score: 70.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDGFD Gene

Human Gene Mutation Database (HGMD)
PDGFD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDGFD
Leiden Open Variation Database (LOVD)
PDGFD

SNP Genotyping and Copy Number Assays for research

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

Disorders for PDGFD Gene

MalaCards: The human disease database

(7) MalaCards diseases for PDGFD Gene - From: COP and GCD

Disorder Aliases PubMed IDs
obstructive nephropathy
  • con
familiar ovarian carcinoma
proliferative glomerulonephritis
mesangial proliferative glomerulonephritis
  • glomerulonephritis - mesangial proliferative
prostate cancer
  • prostate cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search PDGFD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PDGFD

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

Publications for PDGFD Gene

  1. Molecular cloning of SCDGF-B, a novel growth factor homologous to SCDGF/PDGF-C/fallotein. (PMID: 11162582) Hamada T … Miyata Y (Biochemical and biophysical research communications 2001) 2 3 4 22
  2. Platelet-derived growth factor-D expression in developing and mature human kidneys. (PMID: 12427128) Changsirikulchai S … Alpers CE (Kidney international 2002) 3 4 22
  3. Platelet-derived growth factor D: tumorigenicity in mice and dysregulated expression in human cancer. (PMID: 11980634) LaRochelle WJ … Lichenstein HS (Cancer research 2002) 2 3 4
  4. Chromosomal location, exon structure, and vascular expression patterns of the human PDGFC and PDGFD genes. (PMID: 11342471) Uutela M … Alitalo K (Circulation 2001) 3 4 22
  5. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 40

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