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Aliases for CD248 Gene
Aliases for CD248 Gene
External Ids for CD248 Gene
- HGNC: 18219
- Entrez Gene: 57124
- Ensembl: ENSG00000174807
- OMIM: 606064
- UniProtKB: Q9HCU0
Previous HGNC Symbols for CD248 Gene
- CD164L1
Previous GeneCards Identifiers for CD248 Gene
- GC11M065839
- GC11M066083
- GC11M062435
Summaries for CD248 Gene
GeneCards Summary for CD248 Gene
CD248 (CD248 Molecule) is a Protein Coding gene. Diseases associated with CD248 include Vascular Cancer and Adult Fibrosarcoma. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix binding. An important paralog of this gene is CD93.
UniProtKB/Swiss-Prot Summary for CD248 Gene
-
May play a role in tumor angiogenesis.
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD248 Gene
Genomics for CD248 Gene
GeneHancer (GH) Regulatory Elements for CD248 Gene
Promoters and enhancers for CD248 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 CD248 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD248
- Top Transcription factor binding sites by QIAGEN in the CD248 gene promoter:
-
- AhR
- AP-4
- c-Myb
- CUTL1
- GATA-2
- Pax-6
- RORalpha1
- SREBP-1a
- SREBP-1b
- SREBP-1c
Genomic Locations for CD248 Gene
Genomic Locations for CD248 Gene
- chr11:66,314,487-66,317,044
- (GRCh38/hg38)
- Size:
- 2,558 bases
- Orientation:
- Minus strand
- chr11:66,081,958-66,084,515
- (GRCh37/hg19)
- Size:
- 2,558 bases
- Orientation:
- Minus strand
Genomic View for CD248 Gene
Genes around CD248 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.2 by HGNC
- 11q13.2 by Entrez Gene
- 11q13.2 by Ensembl
CD248 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 CD248 Gene
Proteins for CD248 Gene
-
Protein details for CD248 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HCU0-CD248_HUMAN
- Recommended name:
- Endosialin
- Protein Accession:
- Q9HCU0
- Q2M2V5
- Q3SX55
- Q96KB6
Protein attributes for CD248 Gene
- Size:
- 757 amino acids
- Molecular mass:
- 80859 Da
- Quaternary structure:
- No Data Available
Protein Expression for CD248 Gene
Post-translational modifications for CD248 Gene
- O-glycosylated with sialylated oligosaccharides.
- May be N-glycosylated.
-
Glycosylation at Thr60, Thr401, Thr428, Thr448, Thr456, Thr459, Thr472, Thr519, Thr541, Thr543, Thr544, Thr545, Thr587, Thr593, Thr594, Thr595, Ser598, Ser601, Thr612, Thr619, Ser623, Ser625, Thr627, Thr630, Ser631, Thr636, and Ser640
- NX_Q9HCU0 (NX_Q9HCU0-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CD248 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CD248 Antibody
- Creative Diagnostics Anti-CD248 monoclonal antibody, clone 3B8
- Novus Biologicals Antibodies for CD248
-
Abcam antibodies for CD248
- Invitrogen Antibodies for CD248 (AFLGC-CD248)
-
Custom Antibody ServicesProSci Antibodies for CD248
-
Santa Cruz Biotechnology (SCBT) Antibodies for CD248
- Sino Biological Antibodies for CD248
Protein Products
-
OriGene Purified Proteins for CD248
- Search Origene for MassSpec and Protein Over-expression Lysates for CD248
- Origene Custom Protein Services for CD248
- antibodies-online: Show 7 available CD248 Proteins ranked by validation data
- Compare Top CD248 Proteins
-
Quality Products:
-
Abcam proteins for CD248
Assay Products
- Creative Diagnostics Human CD248 ELISA Matched Antibody Pair (ABPR-0165) and Human CD248 ELISA Matched Antibody Pair (ABPR-0166)
- antibodies-online: Show 3 available CD248 Elisa Kits ranked by validation data
- Compare Top CD248 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CD248 Gene
Domains & Families for CD248 Gene
Gene Families for CD248 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- CD markers
- Predicted membrane proteins
Protein Domains for CD248 Gene
- Blocks:
-
- Aspartic acid and asparagine hydroxylation site
- EGF-like calcium-binding
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CD248 Gene
- GenScript: Design optimal peptide antigens:
-
- Tumor endothelial marker 1 (CD248_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CD248 Gene
Function for CD248 Gene
Molecular function for CD248 Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in tumor angiogenesis.
Phenotypes From GWAS Catalog for CD248 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0030246 | carbohydrate binding | IEA | -- |
| GO:0050840 | extracellular matrix binding | IBA,IEA | 21873635 |
| GO:1990430 | extracellular matrix protein binding | IBA | 21873635 |
Phenotypes for CD248 Gene
- MGI mutant phenotypes for CD248:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CD248:
-
- Decreased viability ratio
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased viability in esophageal squamous lineage
- Decreased Salmonella enterica Typhimurium invasion
- Decreased Salmonella enterica Typhimurium binding
- Decreased viability with TRAIL
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased Dengue Infection
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Increased viability
Animal Models for CD248 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for CD248
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CD248 - Select products 50% OFF >
- * CD248 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CD248 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for CD248
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD248
- genomics-online: gRNA clones - Search for available CD248 gRNA products
- Overview of 110 available CD248 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD248
miRNA for CD248 Gene
- miRTarBase miRNAs that target CD248
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD248
- Browse OriGene Inhibitory RNA Products For CD248
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD248
- genomics-online: shRNA clones - Search for available CD248 shRNA products
- Overview of 110 available CD248 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for CD248 - Select products 50% OFF >
- * CD248 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CD248 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for CD248
- Addgene plasmids for CD248
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD248
- genomics-online: cdna clones - Search for available CD248 CDNA products
- Overview of 110 available CD248 gene related products
- orf clones - Search for available CD248 ORF products
- Overview of 110 available CD248 gene related products
Cell Line Products
-
Horizon Cell Lines for CD248
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD248 Gene
Localization for CD248 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CD248 Gene
- Membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0009897 | external side of plasma membrane | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0031012 | extracellular matrix | TAS | 10947988 |
Pathways & Interactions for CD248 Gene
Interacting Proteins for CD248 Gene
GPS-Prot Interaction Network for CD248
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008150 | biological_process | ND | -- |
| GO:0008284 | positive regulation of cell proliferation | IEA | -- |
| GO:0016477 | cell migration | IBA,IEA | 21873635 |
| GO:0048535 | lymph node development | IEA | -- |
| GO:0060033 | anatomical structure regression | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for CD248 Gene
Drugs & Compounds for CD248 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| MORAB-004 | Pharma | 0 |
Transcripts for CD248 Gene
mRNA/cDNA for CD248 Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000311330 2551 bps (ENST00000311330.4)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CD248 - Select products 50% OFF >
- * CD248 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CD248 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for CD248
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD248
- genomics-online: gRNA clones - Search for available CD248 gRNA products
- Overview of 110 available CD248 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD248
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD248
- Browse OriGene Inhibitory RNA Products For CD248
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD248
- genomics-online: shRNA clones - Search for available CD248 shRNA products
- Overview of 110 available CD248 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for CD248 - Select products 50% OFF >
- * CD248 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CD248 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for CD248
- Addgene plasmids for CD248
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD248
- genomics-online: cdna clones - Search for available CD248 CDNA products
- Overview of 110 available CD248 gene related products
- orf clones - Search for available CD248 ORF products
- Overview of 110 available CD248 gene related products
Relevant External Links for CD248 Gene
- GeneLoc Exon Structure for
- CD248
Expression for CD248 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
-
Dermis (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
- Detroit 551
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
- S-shaped Body
-
Hair (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Head Mesenchyme (Muscoskeletal System)
- Dental Mesenchymal Cells Branchial Arch 1
- Branchial Arch 1
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Tooth
- Dental Mesenchymal Cells Branchial Arch 1
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Intestine (Gastrointestinal Tract)
- Limb (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
- Fibroblasts
-
Placenta (Extraembryonic Tissues)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for CD248 Gene
This gene is overexpressed in Adipose - Subcutaneous (x6.6) and Adipose - Visceral (Omentum) (x4.5).
This gene is overexpressed in Urine (29.2), Cerebrospinal fluid (9.0), and Gallbladder (7.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD248 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD248
SOURCE GeneReport for Unigene cluster for CD248 Gene:
Hs.195727mRNA Expression by UniProt/SwissProt for CD248 Gene:
Q9HCU0-CD248_HUMAN
Tissue specificity:
Expressed in tumor endothelial cells but absent or barely detectable in normal endothelial cells. Expressed in metastatic lesions of the liver and during angiogenesis of corpus luteum formation and wound healing. Expressed in vascular endothelial cells of malignant tumors but not in normal blood vessels. Expressed in stromal fibroblasts.
Evidence on tissue expression from TISSUES for CD248 Gene
- Nervous system(4.3)
- Liver(4.1)
- Intestine(2.3)
- Muscle(2.2)
- Heart(2.1)
Primer Products
-
OriGene qPCR primer pairs for CD248
-
OriGene qPCR primer pairs and template standards for CD248
- genomics-online: primer clones - Search for available CD248 Primer products
- Overview of 110 available CD248 gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CD248 Gene
Orthologs for CD248 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CD248 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CD248 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CD248 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cd248 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100911882 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CD248 31 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CD248 31 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | cd248b 31 |
|
OneToMany | |
| cd248a 31 |
|
OneToMany |
- Species where no ortholog for CD248 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- chicken (Gallus gallus)
- 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)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for CD248 Gene
- ENSEMBL:
- Gene Tree for CD248 (if available)
- TreeFam:
- Gene Tree for CD248 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CD248: view image
Paralogs for CD248 Gene
Variants for CD248 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD248 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_036399 | A colorectal cancer sample | p.Leu6Phe | |||
| rs3741367 | - | p.His457Arg |
Residual Variation Intolerance Score:
90% of all genes are more intolerant (likely to be disease-causing)