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    CD248 CD248 molecule [ Homo sapiens (human) ]

    Gene ID: 57124, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CD248provided by HGNC
    Official Full Name
    CD248 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:18219
    See related
    Ensembl:ENSG00000174807 MIM:606064; AllianceGenome:HGNC:18219
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TEM1; CD164L1
    Summary
    Predicted to enable extracellular matrix binding activity and extracellular matrix protein binding activity. Predicted to be involved in cell migration. Predicted to act upstream of or within several processes, including fibroblast migration; lymph node development; and positive regulation of endothelial cell apoptotic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    mouse all
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    Genomic context

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    See CD248 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66314494..66317044, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66308147..66310697, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66081965..66084515, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5915 Neighboring gene Yip1 interacting factor homolog A, membrane trafficking protein Neighboring gene transmembrane protein 151A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66083264-66083960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:66086517-66087018 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:66087019-66087518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66093768-66094517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66104385-66105239 Neighboring gene Ras and Rab interactor 1 Neighboring gene BRMS1 transcriptional repressor and anoikis regulator Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:66112315-66112865

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Hypoxia upregulates expression of human endosialin gene via hypoxia-inducible factor 2. Ohradanova A, et al. Br J Cancer, 2008 Oct 21. PMID 18813310, Free PMC Article
    2. Endosialin (Tem1) is a marker of tumor-associated myofibroblasts and tumor vessel-associated mural cells. Christian S, et al. Am J Pathol, 2008 Feb. PMID 18187565, Free PMC Article
    3. Endosialin (CD248) is a marker of tumor-associated pericytes in high-grade glioma. Simonavicius N, et al. Mod Pathol, 2008 Mar. PMID 18192970
    4. Human endothelial precursor cells express tumor endothelial marker 1/endosialin/CD248. Bagley RG, et al. Mol Cancer Ther, 2008 Aug. PMID 18723498
    5. Endosialin expression in soft tissue sarcoma as a potential marker of undifferentiated mesenchymal cells. Thway K, et al. Br J Cancer, 2016 Aug 9. PMID 27434038, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Regulation of matrix reloading by tumor endothelial marker 1 protects against abdominal aortic aneurysm.
      Title: Regulation of matrix reloading by tumor endothelial marker 1 protects against abdominal aortic aneurysm.
    2. IL-8 from CD248-expressing cancer-associated fibroblasts generates cisplatin resistance in non-small cell lung cancer.
      Title: IL-8 from CD248-expressing cancer-associated fibroblasts generates cisplatin resistance in non-small cell lung cancer.
    3. TEM1/endosialin/CD248 promotes pathologic scarring and TGF-beta activity through its receptor stability in dermal fibroblasts.
      Title: TEM1/endosialin/CD248 promotes pathologic scarring and TGF-β activity through its receptor stability in dermal fibroblasts.
    4. [Expression of endosialin in human hypertrophic scars and its regulation on fibroblast phenotype].
      Title: [Expression of endosialin in human hypertrophic scars and its regulation on fibroblast phenotype].
    5. Inflammatory Mesenchymal Stem Cells Express Abundant Membrane-Bound and Soluble Forms of C-Type Lectin-like CD248.
      Title: Inflammatory Mesenchymal Stem Cells Express Abundant Membrane-Bound and Soluble Forms of C-Type Lectin-like CD248.
    6. Endosialin-positive tumor-derived pericytes promote tumor progression through impeding the infiltration of CD8[+] T cells in clear cell renal cell carcinoma.
      Title: Endosialin-positive tumor-derived pericytes promote tumor progression through impeding the infiltration of CD8(+) T cells in clear cell renal cell carcinoma.
    7. Fibroblast expression of CD248 may contribute to exacerbation of microvascular damage during systemic sclerosis.
      Title: Fibroblast expression of CD248 may contribute to exacerbation of microvascular damage during systemic sclerosis.
    8. CD248 Regulates Wnt Signaling in Pericytes to Promote Angiogenesis and Tumor Growth in Lung Cancer.
      Title: CD248 Regulates Wnt Signaling in Pericytes to Promote Angiogenesis and Tumor Growth in Lung Cancer.
    9. Placental and plasma early predictive biomarkers for gestational diabetes mellitus.
      Title: Placental and plasma early predictive biomarkers for gestational diabetes mellitus.
    10. Tumor endothelial marker 1 is upregulated in heart after cardiac injury and participates in cardiac remodeling.
      Title: Tumor endothelial marker 1 is upregulated in heart after cardiac injury and participates in cardiac remodeling.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD248 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC119478, MGC119479

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables extracellular matrix binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables extracellular matrix protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anatomical structure regression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endothelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fibroblast migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lymph node development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of endothelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular matrix TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    endosialin
    Names
    2610111G01Rik
    CD164 sialomucin-like 1
    CD248 antigen, endosialin
    CD248 molecule, endosialin
    tumor endothelial marker 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020404.3 → NP_065137.1  endosialin precursor

      See identical proteins and their annotated locations for NP_065137.1

      Status: VALIDATED

      Source sequence(s)
      AJ295846, BC051340
      Consensus CDS
      CCDS8134.1
      UniProtKB/Swiss-Prot
      Q2M2V5, Q3SX55, Q96KB6, Q9HCU0
      UniProtKB/TrEMBL
      A0A120HV04
      Related
      ENSP00000308117.3, ENST00000311330.4
      Conserved Domains (5) summary
      cd03600
      Location:29 → 160
      CLECT_thrombomodulin_like; C-type lectin-like domain (CTLD) of the type found in human thrombomodulin(TM), Endosialin, C14orf27, and C1qR
      smart00179
      Location:312 → 350
      EGF_CA; Calcium-binding EGF-like domain
      pfam01826
      Location:269 → 316
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam06484
      Location:535 → 688
      Ten_N; Teneurin Intracellular Region
      pfam14670
      Location:235 → 271
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66314494..66317044 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66308147..66310697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCU0.1 GenPept UniProtKB/Swiss-Prot:Q9HCU0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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