Aliases for CD248 Gene

Aliases for CD248 Gene

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

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. Diseases associated with CD248 include Vascular Cancer and Klebsiella Pneumonia. 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

Gene Wiki entry for CD248 Gene

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 Pubs

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 the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr11:66,314,494-66,317,044
(GRCh38/hg38)
Size:
2,551 bases
Orientation:
Minus strand

Previous Assembly
chr11:66,081,965-66,084,515
(GRCh37/hg19 by Entrez Gene)
Size:
2,551 bases
Orientation:
Minus strand

chr11:66,081,958-66,084,515
(GRCh37/hg19 by Ensembl)
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

  • 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
  • Modification sites at PhosphoSitePlus

Other Protein References for CD248 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CD248
  • Santa Cruz Biotechnology (SCBT) Antibodies for CD248

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

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding

Suggested Antigen Peptide Sequences for CD248 Gene

GenScript: Design optimal peptide antigens:
  • Tumor endothelial marker 1 (CD248_HUMAN)
genes like me logo Genes that share domains with CD248: view

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

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 IPI 32814053
GO:0030246 carbohydrate binding IEA --
GO:0050840 extracellular matrix binding IEA,IBA 21873635
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 Models for research

  • Taconic Biosciences Mouse Models for CD248

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD248 Gene

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

Pathways & Interactions for CD248 Gene

PathCards logo

SuperPathways for CD248 Gene

No Data Available

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,IBA 21873635
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 :
10 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Expression for CD248 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Liver(4.4)
  • Muscle(3)
  • Intestine(2.7)
  • Heart(2.6)
  • Skin(2.5)
  • Kidney(2.3)
  • Blood(2.3)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with CD248: view

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 29 30
  • 99.25 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CD248 29 30
  • 85.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CD248 29 30
  • 84.27 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cd248 29 16 30
  • 82.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd248 29
  • 81.5 (n)
Oppossum
(Monodelphis domestica)
Mammalia CD248 30
  • 50 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CD248 30
  • 46 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii cd248b 30
  • 29 (a)
OneToMany
cd248a 30
  • 26 (a)
OneToMany
Species where no ortholog for CD248 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)
  • 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 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)
  • 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
Alliance of Genome Resources:
Additional Orthologs for CD248

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, 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
rs114284078 Benign: not provided 66,315,891(-) G/A
NM_020404.3(CD248):c.1137C>T (p.Asp379=)
SYNONYMOUS
rs115512520 Benign: not provided 66,316,773(-) G/A
NM_020404.3(CD248):c.255C>T (p.Ile85=)
SYNONYMOUS
rs115572668 Benign: not provided 66,315,687(-) G/A
NM_020404.3(CD248):c.1341C>T (p.Val447=)
SYNONYMOUS
rs138322044 Benign: not provided 66,316,725(-) G/A
NM_020404.3(CD248):c.303C>T (p.Arg101=)
SYNONYMOUS
rs144952486 Benign: not provided 66,315,321(-) G/C
NM_020404.3(CD248):c.1707C>G (p.Ala569=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD248 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CD248 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD248
Leiden Open Variation Database (LOVD)
CD248

SNP Genotyping and Copy Number Assays for research

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

MalaCards: The human disease database

(7) MalaCards diseases for CD248 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
vascular cancer
  • blood vessel neoplasm
klebsiella pneumonia
  • pneumonia due to klebsiella pneumoniae
adult fibrosarcoma
acute cystitis
  • urinary tract infections
heritable pulmonary arterial hypertension
  • fpah
- elite association - COSMIC cancer census association via MalaCards
Search CD248 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD248

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CD248: view

No data available for 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 MC (The Journal of biological chemistry 2001) 2 3 4 22
  2. Endosialin (TEM1, CD248) is a marker of stromal fibroblasts and is not selectively expressed on tumour endothelium. (PMID: 15862292) MacFadyen JR … Isacke CM (FEBS letters 2005) 3 4 22
  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 immunity 2005) 3 4 22
  4. Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B … Kinzler KW (Science (New York, N.Y.) 2000) 2 3 4
  5. Identification of endosialin, a cell surface glycoprotein of vascular endothelial cells in human cancer. (PMID: 1438285) Rettig WJ … Old LJ (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22

Products for CD248 Gene

Sources for CD248 Gene