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    CD248 CD248 molecule [ Homo sapiens (human) ]

    Gene ID: 57124, updated on 10-Mar-2024

    Summary

    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 anatomical structure regression; lymph node development; and positive regulation of endothelial cell apoptotic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    NEW
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    Genomic context

    See CD248 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66314494..66317044, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66308147..66310697, complement)
    105.20220307 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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_020404.3NP_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:29160
      CLECT_thrombomodulin_like; C-type lectin-like domain (CTLD) of the type found in human thrombomodulin(TM), Endosialin, C14orf27, and C1qR
      smart00179
      Location:312350
      EGF_CA; Calcium-binding EGF-like domain
      pfam01826
      Location:269316
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam06484
      Location:535688
      Ten_N; Teneurin Intracellular Region
      pfam14670
      Location:235271
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)