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Aliases for CD248 Gene

Aliases for CD248 Gene

  • CD248 Molecule, Endosialin 2 3
  • Tumor Endothelial Marker 1 2 3 4
  • TEM1 3 4 6
  • CD248 Antigen, Endosialin 2 3
  • CD164 Sialomucin-Like 1 2 3
  • Endosialin 2 3
  • CD164L1 3 4
  • 2610111G01Rik 3
  • CD248 Antigen 4

External Ids for CD248 Gene

Previous Symbols for CD248 Gene

  • CD164L1

Summaries for CD248 Gene

GeneCards Summary for CD248 Gene

CD248 (CD248 Molecule, Endosialin) is a Protein Coding gene. Diseases associated with CD248 include colorectal cancer. 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD248 Gene

Genomics for CD248 Gene

Genomic Location for CD248 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CD248 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD248 Gene

Regulatory Elements 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

Proteomics data for CD248 Gene at MOPED

Post-translational modifications for CD248 Gene

  • May be N-glycosylated.
  • O-glycosylated with sialylated oligosaccharides.
  • Modification sites at PhosphoSitePlus
  • 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

Other Protein References for CD248 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CD248 Gene

Domains for CD248 Gene

Gene Families for CD248 Gene

HGNC:
  • CD :CD molecules

UniProtKB/Swiss-Prot:

CD248_HUMAN
Domain:
  • Contains 1 C-type lectin domain.:
    • Q9HCU0
  • Contains 1 EGF-like domain.:
    • Q9HCU0
  • Contains 1 Sushi (CCP/SCR) domain.:
    • Q9HCU0
genes like me logo Genes that share domains with CD248: view

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:0005515 protein binding --
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:

miRNA for CD248 Gene

miRTarBase miRNAs that target CD248

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for CD248 Gene COMPARTMENTS Subcellular localization image for CD248 gene
Compartment Confidence
extracellular 5
plasma membrane 3
peroxisome 2
cytoskeleton 1
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:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CD248: view

Pathways for CD248 Gene

SuperPathways for CD248 Gene

No Data Available

Interacting Proteins for CD248 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000308117%0d%0a9606.ENSP00000262776%0d%0a9606.ENSP00000201031%0d%0a
Selected Interacting proteins: ENSP00000308117 Q9HCU0-CD248_HUMAN for CD248 Gene via STRING I2D

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 for CD248 Gene

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:

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 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 (6.6) and Adipose - Visceral (Omentum) (4.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CD248 Gene

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.
genes like me logo Genes that share expressions with CD248: view

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 36
  • 99.25 (n)
  • 99.21 (a)
CD248 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CD248 36
  • 84.27 (n)
  • 79.57 (a)
CD248 37
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CD248 36
  • 85.99 (n)
  • 83.24 (a)
CD248 37
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cd248 36
  • 82.27 (n)
  • 80 (a)
Cd248 16
Cd248 37
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CD248 37
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911882 36
  • 81.5 (n)
  • 78.78 (a)
lizard
(Anolis carolinensis)
Reptilia CD248 37
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cd248a 37
  • 26 (a)
OneToMany
cd248b 37
  • 29 (a)
OneToMany
Species with no ortholog for CD248:
  • 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 MAF
rs2509566 -- 66,317,862(+) CCAGG(G/T)GCTGC upstream-variant-2KB
rs3741367 - 66,315,658(+) TGGGA(C/T)GCGTG reference, missense
rs3741368 -- 66,316,311(+) CCCCC(A/G)TTGTC reference, synonymous-codon
rs3832786 -- 66,315,700(+) GCACT(-/GAG)GAGTG cds-indel
rs7110351 -- 66,315,234(+) ACAGG(A/G)GACCT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CD248 Gene

Variant ID Type Subtype PubMed ID
dgv1187n71 CNV Loss 21882294
nsv897772 CNV Loss 21882294

Relevant External Links for CD248 Gene

HapMap Linkage Disequilibrium report
CD248

Disorders for CD248 Gene

(1) MalaCards Diseases for CD248 Gene

Search for CD248 Gene in MalaCards »

(5) Novoseek inferred disease relationships for CD248 Gene

Disease -log(P) Hits PubMed IDs
stromal tumors 76.1 2
blood vessel tumors 75.5 3
sarcoma 41.5 6
tumors 40.1 41
cancer 34 16

Relevant External Links for CD248

Genetic Association Database (GAD)
CD248
Human Genome Epidemiology (HuGE) Navigator
CD248
genes like me logo Genes that share disorders with CD248: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. 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 23
  3. 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 23
  4. 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 23
  5. Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B. … Kinzler K.W. (Science 2000) 2 3 4

Products for CD248 Gene

  • Addgene plasmids for CD248

Sources for CD248 Gene

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