• Gene id: 57124

Gene Summary

• Gene Symbol: CD248   Gene   UCSC   Ensembl
• Aliases: CD164L1, TEM1
• Gene name: CD248 molecule
• Alternate names: endosialin, 2610111G01Rik, CD164 sialomucin-like 1, CD248 antigen, endosialin, CD248 molecule, endosialin, tumor endothelial marker 1,
• Gene location: 11q13.2 (66317043: 66314493)     Exons: 1     NC_000011.10
• OMIM: 616542

Protein Summary

• Protein general information: Q9HCU0  
  • Name: Endosialin (Tumor endothelial marker 1) (CD antigen CD248)
  • Length: 757  
  • Mass: 80859
  • Tissue specificity: Expressed in tumor endothelial cells but absent or barely detectable in normal endothelial cells. Expressed in metastatic lesions of the liver and during angiogenesis of corpus luteum formation and wound healing. Expressed in vascular
• Sequence:

  MLLRLLLAWAAAGPTLGQDPWAAEPRAACGPSSCYALFPRRRTFLEAWRACRELGGDLATPRTPEEAQRVDSLVG
  AGPASRLLWIGLQRQARQCQLQRPLRGFTWTTGDQDTAFTNWAQPASGGPCPAQRCVALEASGEHRWLEGSCTLA
  VDGYLCQFGFEGACPALQDEAGQAGPAVYTTPFHLVSTEFEWLPFGSVAAVQCQAGRGASLLCVKQPEGGVGWSR
  AGPLCLGTGCSPDNGGCEHECVEEVDGHVSCRCTEGFRLAADGRSCEDPCAQAPCEQQCEPGGPQGYSCHCRLGF
  RPAEDDPHRCVDTDECQIAGVCQQMCVNYVGGFECYCSEGHELEADGISCSPAGAMGAQASQDLGDELLDDGEDE
  EDEDEAWKAFNGGWTEMPGILWMEPTQPPDFALAYRPSFPEDREPQIPYPEPTWPPPLSAPRVPYHSSVLSVTRP
  VVVSATHPTLPSAHQPPVIPATHPALSRDHQIPVIAANYPDLPSAYQPGILSVSHSAQPPAHQPPMISTKYPELF
  PAHQSPMFPDTRVAGTQTTTHLPGIPPNHAPLVTTLGAQLPPQAPDALVLRTQATQLPIIPTAQPSLTTTSRSPV
  SPAHQISVPAATQPAALPTLLPSQSPTNQTSPISPTHPHSKAPQIPREDGPSPKLALWLPSPAPTAAPTALGEAG
  LAEHSQRDDRWLLVALLVPTCVFLVVLLALGIVYCTRCGPHAPNKRITDCYRWVIHAGSKSPTEPMPPRGSLTGV
  QTCRTSV

• Structural information:
  • Protein Domains: (30..15-)
    (/note="C-type-lectin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00040-)
    (162..23-)
    (/note="Sushi-)
    (312..35-)
    (/note="EGF-lik-)
    (-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR001304  IPR016186  IPR016187  IPR001881  IPR000742   IPR000152  IPR018097  IPR009030  
  • Prosite: PS50041 PS01186 PS01187
  • STRING: ENSP00000308117
• Other Databases: GeneCards:  CD248  Malacards:  CD248

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016477	cell migration	IBA	biological process
GO:0050840	extracellular matrix binding	IBA	molecular function
GO:1990430	extracellular matrix protein binding	IBA	molecular function
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0050840	extracellular matrix binding	IEA	molecular function
GO:0016477	cell migration	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:2000353	positive regulation of endothelial cell apoptotic process	IEA	biological process
GO:0060033	anatomical structure regression	IEA	biological process
GO:0048535	lymph node development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0031012	extracellular matrix	TAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray