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CD248 CD248 molecule [ Homo sapiens (human) ]

Gene ID: 57124, updated on 10-Mar-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 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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Inflammatory Mesenchymal Stem Cells Express Abundant Membrane-Bound and Soluble Forms of C-Type Lectin-like CD248. Payet M, et al. Int J Mol Sci, 2023 May 31. PMID 37298499, Free PMC Article
  2. Fibroblast expression of CD248 may contribute to exacerbation of microvascular damage during systemic sclerosis. Cipriani P, et al. Rheumatology (Oxford), 2023 Mar 1. PMID 35916713
  3. Linking myofibroblast generation and microvascular alteration: The role of CD248 from pathogenesis to therapeutic target (Review). Di Benedetto P, et al. Mol Med Rep, 2019 Aug. PMID 31257535
  4. Specific loss of adipocyte CD248 improves metabolic health via reduced white adipose tissue hypoxia, fibrosis and inflammation. Petrus P, et al. EBioMedicine, 2019 Jun. PMID 31221584, Free PMC Article
  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 (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. [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].
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Placental and plasma early predictive biomarkers for gestational diabetes mellitus.
    Title: Placental and plasma early predictive biomarkers for gestational diabetes mellitus.
  9. 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.
  10. Role of tumor endothelial marker 1 (Endosialin/CD248) lectin-like domain in lipopolysaccharide-induced macrophage activation and sepsis in mice.
    Title: Role of tumor endothelial marker 1 (Endosialin/CD248) lectin-like domain in lipopolysaccharide-induced macrophage activation and sepsis in mice.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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_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)
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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