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    CD248 CD248 molecule [ Homo sapiens (human) ]

    Gene ID: 57124, updated on 23-May-2018
    Official Symbol
    CD248provided by HGNC
    Official Full Name
    CD248 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:18219
    See related
    Ensembl:ENSG00000174807 MIM:606064; Vega:OTTHUMG00000167073
    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
    Orthologs
    See CD248 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (66314487..66317044, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66081958..66084515, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Yip1 interacting factor homolog A, membrane trafficking protein Neighboring gene transmembrane protein 151A Neighboring gene Ras and Rab interactor 1 Neighboring gene BRMS1, transcriptional repressor and anoikis regulator

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC119478, MGC119479

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular matrix binding IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    anatomical structure regression IEA
    Inferred from Electronic Annotation
    more info
     
    biological_process ND
    No biological Data available
    more info
     
    cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    lymph node development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of endothelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    endosialin
    Names
    2610111G01Rik
    CD164 sialomucin-like 1
    CD248 antigen, endosialin
    CD248 molecule, endosialin
    tumor endothelial marker 1

    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_020404.2NP_065137.1  endosialin precursor

      See identical proteins and their annotated locations for NP_065137.1

      Status: VALIDATED

      Source sequence(s)
      AJ295846, BC051340, BQ005949
      Consensus CDS
      CCDS8134.1
      UniProtKB/Swiss-Prot
      Q9HCU0
      Related
      ENSP00000308117.3, OTTHUMP00000235028, ENST00000311330.3, OTTHUMT00000392922
      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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      66314487..66317044 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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