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Aliases for CD248 Gene

Aliases for CD248 Gene

  • CD248 Molecule 2 3 5
  • Tumor Endothelial Marker 1 2 3 4
  • CD248 Molecule, Endosialin 2 3
  • CD248 Antigen, Endosialin 2 3
  • CD164 Sialomucin-Like 1 2 3
  • Endosialin 2 3
  • CD164L1 3 4
  • TEM1 3 4
  • 2610111G01Rik 3
  • CD248 Antigen 4

External Ids for CD248 Gene

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. 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 for CD248 Gene

  • May play a role in tumor angiogenesis.

Gene Wiki entry for CD248 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD248 Gene

Genomics for CD248 Gene

Regulatory Elements for CD248 Gene

Enhancers for CD248 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G066342 1.8 FANTOM5 ENCODE dbSUPER 11.1 -31.5 -31501 11.8 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 RIN1 EIF1AD ENSG00000258297 ACTN3 RAD9A RBM14 KAT5 ENSG00000255320 LOC105369352 CTSF
GH11G066111 1.7 Ensembl ENCODE dbSUPER 9.3 +200.9 200879 10.3 HNRNPUL1 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 EIF1AD RBM14 ENSG00000255320 ENSG00000258297 SF3B2 ENSG00000255038 PACS1 LOC105369352 RBM4B KLC2
GH11G066281 1.5 Ensembl ENCODE dbSUPER 10.3 +34.7 34663 2.1 HDGF PKNOX1 AGO1 SIN3A ARID4B ZNF2 ZNF48 ZNF207 ZNF143 DEK ENSG00000254458 ENSG00000254461 KLC2 CD248 ENSG00000255320 PACS1 ENSG00000245156 YIF1A
GH11G067116 1.3 ENCODE dbSUPER 11.2 -802.7 -802660 5.7 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 SP3 LOC105369352 ENSG00000254461 ENSG00000258297 RBM14 SSH3 KLC2 RBM4B RCE1 B4GAT1 PTPRCAP
GH11G066106 1.3 Ensembl ENCODE dbSUPER 9.3 +209.7 209688 1.3 ATF1 FOXA2 SAP130 AGO1 MAX ZKSCAN1 ZNF7 ZEB1 EED SCRT2 ENSG00000255320 ENSG00000255038 PACS1 CATSPER1 CST6 BANF1 EIF1AD CD248 TMEM151A LOC105369354
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CD248 on UCSC Golden Path with GeneCards custom track

Promoters for CD248 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000264485 -56 201 DRAP1 POLR2A HNRNPL KDM6A RBFOX2
ENSR00000264486 344 201 HNRNPL KDM6A

Genomic Location for CD248 Gene

Chromosome:
11
Start:
66,314,487 bp from pter
End:
66,317,044 bp from pter
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:
CD248 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD248 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • Q2M2V5
    • Q3SX55
    • Q96KB6

    Protein attributes for CD248 Gene

    Size:
    757 amino acids
    Molecular mass:
    80859 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CD248 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD248 Gene

Post-translational modifications for CD248 Gene

  • May be N-glycosylated.
  • O-glycosylated with sialylated oligosaccharides.
  • Glycosylation at Thr60, posLast=401401, Thr428, posLast=448448, Thr456, Thr459, Thr472, Thr519, Thr541, Thr543, Thr544, posLast=545545, Thr587, Thr593, Thr594, Thr595, Ser598, posLast=601601, posLast=612612, posLast=619619, Ser623, posLast=625625, Thr627, posLast=630630, Ser631, posLast=636636, and Ser640
  • Modification sites at PhosphoSitePlus

Other Protein References for CD248 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CD248 Gene

Domains & Families for CD248 Gene

Gene Families for CD248 Gene

Suggested Antigen Peptide Sequences for CD248 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CD248: view

No data available for 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.

Gene Ontology (GO) - Molecular Function 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 IEA --
genes like me logo Genes that share ontologies with CD248: view
genes like me logo Genes that share phenotypes with CD248: view

Animal Models for CD248 Gene

MGI Knock Outs for CD248:

Animal Model Products

  • Taconic Biosciences Mouse Models for CD248

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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.

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 CD248 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 2
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CD248 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix TAS 10947988
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CD248: view

Pathways & Interactions for CD248 Gene

SuperPathways for CD248 Gene

No Data Available

Interacting Proteins for CD248 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000308117%0d%0a9606.ENSP00000262776%0d%0a
Selected Interacting proteins: ENSP00000308117 Q9HCU0-CD248_HUMAN for CD248 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CD248 Gene

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 IEA --
GO:0048535 lymph node development IEA --
GO:0060033 anatomical structure regression IEA --
genes like me logo Genes that share ontologies with CD248: view

No data available for Pathways by source and SIGNOR curated interactions for CD248 Gene

Drugs & Compounds for CD248 Gene

(1) Drugs for CD248 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MORAB-004 Pharma 0
genes like me logo Genes that share compounds with CD248: view

Transcripts for CD248 Gene

mRNA/cDNA for CD248 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(107) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CD248 Gene

CD248 molecule, endosialin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CD248

Alternative Splicing Database (ASD) splice patterns (SP) for CD248 Gene

No ASD Table

Relevant External Links for CD248 Gene

GeneLoc Exon Structure for
CD248
ECgene alternative splicing isoforms for
CD248

Expression for CD248 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CD248 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for CD248 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of CD248 Gene:

CD248

SOURCE GeneReport for Unigene cluster for CD248 Gene:

Hs.195727

mRNA 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)
genes like me logo Genes that share expression patterns with CD248: view

Primer 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.

Orthologs for CD248 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD248 34 35
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia CD248 34 35
  • 85.99 (n)
cow
(Bos Taurus)
Mammalia CD248 34 35
  • 84.27 (n)
mouse
(Mus musculus)
Mammalia Cd248 34 16 35
  • 82.27 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911882 34
  • 81.5 (n)
oppossum
(Monodelphis domestica)
Mammalia CD248 35
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CD248 35
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cd248b 35
  • 29 (a)
OneToMany
cd248a 35
  • 26 (a)
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)

Paralogs for CD248 Gene

Paralogs for CD248 Gene

genes like me logo Genes that share paralogs with CD248: view

Variants for CD248 Gene

Sequence variations from dbSNP and Humsavar for CD248 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_036399 A colorectal cancer sample
rs1000695166 -- 66,315,240(+) GACCT(A/G)GAGGT reference, synonymous-codon
rs1002976090 -- 66,317,547(+) CTCTC(C/T)GCCAA upstream-variant-2KB
rs1003127429 -- 66,316,649(+) GGCCG(A/G)GCAGG reference, missense
rs1003282843 -- 66,319,008(+) ATCCT(A/G)CCAGA upstream-variant-2KB

Variation tolerance for CD248 Gene

Residual Variation Intolerance Score: 90% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.56; 77.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD248 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD248

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CD248 Gene

Disorders for CD248 Gene

Relevant External Links for CD248

Genetic Association Database (GAD)
CD248
Human Genome Epidemiology (HuGE) Navigator
CD248
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD248

No disorders were found for CD248 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CD248 Gene

Publications for CD248 Gene

  1. Molecular cloning and characterization of endosialin, a C-type lectin-like cell surface receptor of tumor endothelium. (PMID: 11084048) Christian S. … Lenter M.C. (J. Biol. Chem. 2001) 2 3 4 22 64
  2. Characterization of cancer stroma markers: in silico analysis of an mRNA expression database for fibroblast activation protein and endosialin. (PMID: 16076089) Dolznig H. … Garin-Chesa P. (Cancer Immun. 2005) 3 4 22 64
  3. Endosialin (TEM1, CD248) is a marker of stromal fibroblasts and is not selectively expressed on tumour endothelium. (PMID: 15862292) MacFadyen J.R. … Isacke C.M. (FEBS Lett. 2005) 3 4 22 64
  4. Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B. … Kinzler K.W. (Science 2000) 2 3 4 64
  5. Identification of endosialin, a cell surface glycoprotein of vascular endothelial cells in human cancer. (PMID: 1438285) Rettig W.J. … Old L.J. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 22 64

Products for CD248 Gene

  • Addgene plasmids for CD248

Sources for CD248 Gene

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