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Aliases for PLXDC1 Gene
Aliases for PLXDC1 Gene
External Ids for PLXDC1 Gene
- HGNC: 20945
- Entrez Gene: 57125
- Ensembl: ENSG00000161381
- OMIM: 606826
- UniProtKB: Q8IUK5
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
-
Plays a critical role in endothelial cell capillary morphogenesis.
Additional gene information for PLXDC1 Gene
- HGNC(20945)
- Entrez Gene(57125)
- Ensembl(ENSG00000161381)
- OMIM(606826)
- UniProtKB(Q8IUK5)
- Open Targets Platform(ENSG00000161381)
- Search for PLXDC1 at DataMed
- Search for PLXDC1 at HumanCyc
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:
-
- 17q12 by HGNC
- 17q12 by Entrez Gene
- 17q12 by Ensembl
PLXDC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for PLXDC1 Gene
Post-translational modifications for PLXDC1 Gene
- N-glycosylated.
-
Glycosylation at Asn80 and Asn197
- NX_Q8IUK5 (NX_Q8IUK5-1)
- Modification sites at PhosphoSitePlus
Other Protein References for PLXDC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences TEM7 Monoclonal Antibody and TEM7 Antibody
- Novus Biologicals Antibodies for PLXDC1
-
Abcam antibodies for PLXDC1
- Invitrogen Antibodies for PLXDC1 (AFLGC-PLXDC1)
-
Custom Antibody ServicesProSci Antibodies for PLXDC1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PLXDC1
- Sino Biological Antibodies for PLXDC1
Protein Products
- G Biosciences Human TEM7/PLXDC1, Lyophilized
- Search Origene for MassSpec and Protein Over-expression Lysates for PLXDC1
- Origene Custom Protein Services for PLXDC1
- Sino Biological Recombinant Proteins for PLXDC1
- Sino Biological Cell Lysates for PLXDC1
- antibodies-online: Show 10 available PLXDC1 Proteins ranked by validation data
- Compare Top PLXDC1 Proteins
-
Quality Products:
-
Signalway Proteins for PLXDC1
-
ProSci Proteins for PLXDC1
-
Abcam proteins for PLXDC1
Assay Products
- RayBiotech Custom Human TEM7/PLXDC1 ELISA
- antibodies-online: Show 4 available PLXDC1 Elisa Kits ranked by validation data
- Compare Top PLXDC1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for PLXDC1
- Sino Biological Assays 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- Family:
-
- Belongs to the plexin family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15574754 |
Phenotypes for PLXDC1 Gene
- MGI mutant phenotypes for PLXDC1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PLXDC1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased gamma-H2AX phosphorylation
- Increased endosome-nucleus distance (endosomes dispersed in the cell periphery)
- Decreased viability
- Decreased NF-kappaB reporter expression
- Decreased homologous recombination repair frequency
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
- Downregulation of NF-kappaB pathway after IL-1beta stimulation
Animal Models for PLXDC1 Gene
- MGI Knock Outs for PLXDC1:
-
- Plxdc1 Plxdc1<tm1Matl>
Animal Model Products
-
Taconic Biosciences Mouse Models for PLXDC1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PLXDC1 - Select products 50% OFF >
- * PLXDC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PLXDC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PLXDC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PLXDC1
miRNA for PLXDC1 Gene
- miRTarBase miRNAs that target PLXDC1
-
- hsa-miR-106a-3p (MIRT495841)
- hsa-miR-670-5p (MIRT495842)
- hsa-miR-4319 (MIRT495843)
- hsa-miR-125b-5p (MIRT495844)
- hsa-miR-125a-5p (MIRT495845)
- hsa-miR-4732-3p (MIRT495846)
- hsa-miR-345-3p (MIRT495847)
- hsa-miR-4661-3p (MIRT495848)
- hsa-miR-4713-5p (MIRT530235)
- hsa-miR-2116-3p (MIRT530236)
- hsa-miR-532-3p (MIRT530237)
- hsa-miR-150-5p (MIRT530238)
- hsa-miR-186-3p (MIRT530239)
- hsa-miR-3613-3p (MIRT530240)
- hsa-miR-3121-3p (MIRT530241)
- hsa-miR-4524a-3p (MIRT611367)
- hsa-miR-5739 (MIRT611368)
- hsa-miR-5091 (MIRT611369)
- hsa-miR-4524b-3p (MIRT611370)
- hsa-miR-1468-5p (MIRT647872)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PLXDC1
- Browse OriGene Inhibitory RNA Products For PLXDC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLXDC1
Clone Products
- Applied Biological Materials (abm): Clones for PLXDC1 - Select products 50% OFF >
- * PLXDC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PLXDC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PLXDC1
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
| endoplasmic reticulum | 0 |
| golgi apparatus | 0 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLXDC1 Gene
Pathways & Interactions for PLXDC1 Gene
Interacting Proteins for PLXDC1 Gene
GPS-Prot Interaction Network for PLXDC1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IEA,NAS | 10947988 |
| GO:0021510 | spinal cord development | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for PLXDC1 Gene
Drugs & Compounds for PLXDC1 Gene
No Compound Related Data Available
Drug Products
- G Biosciences Human TEM7/PLXDC1, Lyophilized
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 :
-
- ENST00000315392 6230 nts (view in UCSC)
- ENST00000394318 2659 nts (view in UCSC)
- ENST00000415163 619 nts (view in UCSC)
- ENST00000441877 876 nts (view in UCSC)
- ENST00000444435 268 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PLXDC1 - Select products 50% OFF >
- * PLXDC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PLXDC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PLXDC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PLXDC1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PLXDC1
- Browse OriGene Inhibitory RNA Products For PLXDC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLXDC1
Clone Products
- Applied Biological Materials (abm): Clones for PLXDC1 - Select products 50% OFF >
- * PLXDC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PLXDC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PLXDC1
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- T Helper Cells Peripheral Blood
- Common Dendritic Cell Precursors Hematopoietic Bone Marrow
- T-Cytotoxic Cells Peripheral Blood
- Double Positive Thymocytes Thymus
- Hematopoietic Bone Marrow
-
Brain (Nervous System)
- Endothelial Cells Blood Brain Barrier
- Cerebellum
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
-
Thymus (Hematopoietic System)
- Double Positive Thymocytes Thymus
-
Endothelium (Cardiovascular System)
- Endothelial Cells Blood Brain Barrier
- Thyroid (Endocrine System)
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.125036mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for PLXDC1
-
OriGene qPCR primer pairs and template standards for PLXDC1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PLXDC1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PLXDC1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PLXDC1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Plxdc1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Plxdc1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PLXDC1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PLXDC1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PLXDC1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PLXDC1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | plxdc1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | plxdc1 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | l(1)G0289 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | pxd-1 31 |
|
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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLXDC1 Gene
Disorders for PLXDC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mulchandani-bhoj-conlin syndrome |
|
|
Search PLXDC1 in MalaCards
View complete list of genes associated with diseases
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
No data available for UniProtKB/Swiss-Prot and Genatlas for PLXDC1 Gene
Publications for PLXDC1 Gene
- 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
- Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B … Kinzler KW (Science (New York, N.Y.) 2000) 2 3 4
- 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
- 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
- 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
ExternalLinks
Products for PLXDC1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PLXDC1
- Origene Custom Protein Services for PLXDC1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PLXDC1
- Browse OriGene Inhibitory RNA Products For PLXDC1
- OriGene qPCR primer pairs for PLXDC1
- OriGene qPCR primer pairs and template standards for PLXDC1
- OriGene CRISPR knockouts for PLXDC1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PLXDC1
- Sino Biological Human cDNA Clone for PLXDC1
- Sino Biological Recombinant Proteins for PLXDC1
- Sino Biological Cell Lysates for PLXDC1
- Sino Biological Antibodies for PLXDC1
- Sino Biological Assays for PLXDC1
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PLXDC1
- Novus Biologicals proteins and lysates for PLXDC1
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- Abcam antibodies for PLXDC1
- Abcam proteins for PLXDC1
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- Browse Primary Antibodies
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- Taconic Biosciences Mouse Models for PLXDC1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for PLXDC1 (AFLGC-PLXDC1)
- VectorBuilder Custom and pre-made DNA vectors for PLXDC1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PLXDC1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PLXDC1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PLXDC1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PLXDC1
- antibodies-online: Show 23 available PLXDC1 Antibodies ranked by validation data
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- antibodies-online: Show 4 available PLXDC1 Elisa Kits ranked by validation data
- Compare Top PLXDC1 Elisa Kits
- Quality Products:
- antibodies-online: Show 10 available PLXDC1 Proteins ranked by validation data
- Compare Top PLXDC1 Proteins
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- Santa Cruz Biotechnology (SCBT) Antibodies for PLXDC1
- Search Santa Cruz Biotechnology (SCBT) for PLXDC1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PLXDC1
- Custom Antibody ServicesProSci Antibodies for PLXDC1
- ProSci Proteins for PLXDC1
- Horizon Cell Lines for PLXDC1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PLXDC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PLXDC1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PLXDC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLXDC1
Sources for PLXDC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB