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CD248 CD248 molecule [ Homo sapiens (human) ]

Gene ID: 57124, updated on 26-Apr-2020

Summary

Official Symbol
CD248provided by HGNC
Official Full Name
CD248 moleculeprovided by HGNC
Primary source
HGNC:HGNC:18219
See related
Ensembl:ENSG00000174807 MIM:606064
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

Genomic context

See CD248 in Genome Data Viewer
Location:
11q13.2
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66314494..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 Sharpr-MPRA regulatory region 5915 Neighboring gene transmembrane protein 151A Neighboring gene Ras and Rab interactor 1 Neighboring gene BRMS1 transcriptional repressor and anoikis regulator

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

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 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 
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
 

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)

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
    Q9HCU0
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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