Aliases for PLXDC1 Gene

Aliases for PLXDC1 Gene

  • Plexin Domain Containing 1 2 3 5
  • TEM3 2 3 4
  • TEM7 2 3 4
  • Plexin Domain-Containing Protein 1 3 4
  • Tumor Endothelial Marker 3 3 4
  • Tumor Endothelial Marker 7 3 4
  • Tumor Endothelial Marker 7 Precursor 2
  • 2410003I07Rik 3
  • PLXDC1 5

External Ids for PLXDC1 Gene

Previous GeneCards Identifiers for PLXDC1 Gene

  • GC17M037129
  • GC17M037594
  • GC17M034473
  • GC17M033015
  • GC17M037219

Summaries for PLXDC1 Gene

GeneCards Summary for PLXDC1 Gene

PLXDC1 (Plexin Domain Containing 1) is a Protein Coding gene. Diseases associated with PLXDC1 include Mulchandani-Bhoj-Conlin Syndrome. An important paralog of this gene is PLXDC2.

UniProtKB/Swiss-Prot Summary for PLXDC1 Gene

Gene Wiki entry for PLXDC1 Gene

Additional gene information for PLXDC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLXDC1 Gene

Genomics for PLXDC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLXDC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLXDC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLXDC1

Top Transcription factor binding sites by QIAGEN in the PLXDC1 gene promoter:
  • AP-4
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • ITF-2
  • Nkx5-1
  • Roaz
  • Tal-1beta

Genomic Locations for PLXDC1 Gene

Genomic Locations for PLXDC1 Gene
chr17:39,063,313-39,154,394
(GRCh38/hg38)
Size:
91,082 bases
Orientation:
Minus strand
chr17:37,219,556-37,310,647
(GRCh37/hg19)
Size:
91,092 bases
Orientation:
Minus strand

Genomic View for PLXDC1 Gene

Genes around PLXDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLXDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLXDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLXDC1 Gene

Proteins for PLXDC1 Gene

  • Protein details for PLXDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUK5-PLDX1_HUMAN
    Recommended name:
    Plexin domain-containing protein 1
    Protein Accession:
    Q8IUK5
    Secondary Accessions:
    • B2R7I8
    • Q5QCZ7
    • Q5QCZ8
    • Q5QCZ9
    • Q9HCT9

    Protein attributes for PLXDC1 Gene

    Size:
    500 amino acids
    Molecular mass:
    55760 Da
    Quaternary structure:
    • Interacts with NID1. May interact with CTTN.

    Alternative splice isoforms for PLXDC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLXDC1 Gene

Post-translational modifications for PLXDC1 Gene

Protein Products

  • Signalway Proteins for PLXDC1
  • Abcam proteins for PLXDC1

No data available for DME Specific Peptides for PLXDC1 Gene

Domains & Families for PLXDC1 Gene

Gene Families for PLXDC1 Gene

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

Protein Domains for PLXDC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLXDC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ36270 fis, clone THYMU2003046, highly similar to Plexin domain-containing protein 1 (B3KSI0_HUMAN)
  • cDNA FLJ58221, highly similar to Plexin domain-containing protein 1 (B4E173_HUMAN)
  • Tumor endothelial marker 7 (PXDC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IUK5

UniProtKB/Swiss-Prot:

PLDX1_HUMAN :
  • Belongs to the plexin family.
Family:
  • Belongs to the plexin family.
genes like me logo Genes that share domains with PLXDC1: view

Function for PLXDC1 Gene

Molecular function for PLXDC1 Gene

UniProtKB/Swiss-Prot Function:
Plays a critical role in endothelial cell capillary morphogenesis.

Phenotypes From GWAS Catalog for PLXDC1 Gene

Gene Ontology (GO) - Molecular Function for PLXDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15574754
genes like me logo Genes that share ontologies with PLXDC1: view
genes like me logo Genes that share phenotypes with PLXDC1: view

Animal Models for PLXDC1 Gene

MGI Knock Outs for PLXDC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PLXDC1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLXDC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLXDC1 Gene

Localization for PLXDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLXDC1 Gene

[Isoform 1]: Cell membrane. Single-pass type I membrane protein. Cell junction, tight junction. Note=Localized predominantly at the tight junctions of vascular endothelial cells and to a lesser extent at the luminal surface of vascular endothelial cells.
[Isoform 2]: Secreted.
[Isoform 3]: Secreted.
[Isoform 4]: Cytoplasm.

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 PLXDC1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
endoplasmic reticulum 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for PLXDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PLXDC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLXDC1 Gene

Pathways & Interactions for PLXDC1 Gene

PathCards logo

SuperPathways for PLXDC1 Gene

No Data Available

Interacting Proteins for PLXDC1 Gene

Gene Ontology (GO) - Biological Process for PLXDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA,NAS 10947988
GO:0021510 spinal cord development IEA --
genes like me logo Genes that share ontologies with PLXDC1: view

No data available for Pathways by source and SIGNOR curated interactions for PLXDC1 Gene

Drugs & Compounds for PLXDC1 Gene

No Compound Related Data Available

Transcripts for PLXDC1 Gene

mRNA/cDNA for PLXDC1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
20 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 PLXDC1

Alternative Splicing Database (ASD) splice patterns (SP) for PLXDC1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a ·
SP1: - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - - - - -
SP6: - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - - - - -
SP9:
SP10: - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - - - -
SP13: - - - - - -
SP14: - - - - - - - -
SP15: - - - - - - - - - -
SP16:

ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b
SP1: -
SP2: - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: - -
SP7:
SP8:
SP9: - - - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for PLXDC1 Gene

GeneLoc Exon Structure for
PLXDC1

Expression for PLXDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLXDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLXDC1 Gene

This gene is overexpressed in Heart (31.5), Vitreous humor (19.8), and Retina (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLXDC1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLXDC1

SOURCE GeneReport for Unigene cluster for PLXDC1 Gene:

Hs.125036

mRNA Expression by UniProt/SwissProt for PLXDC1 Gene:

Q8IUK5-PLDX1_HUMAN
Tissue specificity: Detected in endothelial cells from colorectal cancer, and in endothelial cells from primary cancers of the lung, liver, pancreas, breast and brain. Not detectable in endothelial cells from normal tissue. Expressed in fibrovascular membrane with increased expression in individuals with proliferative diabetic retinopathy.

Evidence on tissue expression from TISSUES for PLXDC1 Gene

  • Nervous system(4.6)
  • Heart(4.5)
  • Intestine(2)
genes like me logo Genes that share expression patterns with PLXDC1: 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 PLXDC1 Gene

Orthologs for PLXDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLXDC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLXDC1 30 31
  • 99.13 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLXDC1 30 31
  • 89.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLXDC1 30 31
  • 89.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plxdc1 30
  • 84.77 (n)
Mouse
(Mus musculus)
Mammalia Plxdc1 30 17 31
  • 83.77 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLXDC1 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PLXDC1 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLXDC1 30 31
  • 75.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLXDC1 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plxdc1 30
  • 61.81 (n)
Zebrafish
(Danio rerio)
Actinopterygii plxdc1 31
  • 47 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta l(1)G0289 31
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pxd-1 31
  • 29 (a)
OneToMany
Species where no ortholog for PLXDC1 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)
  • 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)

Evolution for PLXDC1 Gene

ENSEMBL:
Gene Tree for PLXDC1 (if available)
TreeFam:
Gene Tree for PLXDC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLXDC1: view image

Paralogs for PLXDC1 Gene

Paralogs for PLXDC1 Gene

(1) SIMAP similar genes for PLXDC1 Gene using alignment to 9 proteins:

  • PLDX1_HUMAN
  • B3KSI0_HUMAN
  • B4E173_HUMAN
  • C9JCL2_HUMAN
  • C9JWQ3_HUMAN
  • J3KS04_HUMAN
  • J3QR40_HUMAN
  • J3QRR7_HUMAN
  • L8EA73_HUMAN
genes like me logo Genes that share paralogs with PLXDC1: view

Variants for PLXDC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLXDC1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs75117355 - p.Arg462His

Additional dbSNP identifiers (rs#s) for PLXDC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLXDC1 Gene

Variant ID Type Subtype PubMed ID
dgv917e212 CNV loss 25503493
esv2664163 CNV deletion 23128226
esv2715899 CNV deletion 23290073
esv3640537 CNV loss 21293372
esv3640538 CNV loss 21293372
nsv1146669 OTHER inversion 26484159
nsv1148052 CNV insertion 26484159
nsv2046 CNV deletion 18451855
nsv475599 CNV novel sequence insertion 20440878
nsv833440 CNV loss 17160897

Variation tolerance for PLXDC1 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.24; 70.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLXDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLXDC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLXDC1 Gene

Disorders for PLXDC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLXDC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mulchandani-bhoj-conlin syndrome
  • mbcs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLXDC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PLXDC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLXDC1 Gene

Publications for PLXDC1 Gene

  1. Cell surface tumor endothelial markers are conserved in mice and humans. (PMID: 11559528) Carson-Walter EB … St Croix B (Cancer research 2001) 2 3 4
  2. Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B … Kinzler KW (Science (New York, N.Y.) 2000) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. TEM7 (PLXDC1) in neovascular endothelial cells of fibrovascular membranes from patients with proliferative diabetic retinopathy. (PMID: 18316703) Yamaji Y … Ishibashi T (Investigative ophthalmology & visual science 2008) 3 4
  5. High expression of tumor endothelial marker 7 is associated with metastasis and poor survival of patients with osteogenic sarcoma. (PMID: 17560052) Fuchs B … Sarkar G (Gene 2007) 3 4

Products for PLXDC1 Gene

  • Signalway ELISA kits for PLXDC1
  • Signalway Proteins for PLXDC1

Sources for PLXDC1 Gene