Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57124
Gene name Gene Name - the full gene name approved by the HGNC.	CD248 molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CD248
Synonyms (NCBI Gene) Gene synonyms aliases	CD164L1, TEM1
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q13.2

Show/Hide all(105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029660	hsa-miR-26b-5p	Microarray	19088304
MIRT446954	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT446953	hsa-miR-6509-3p	PAR-CLIP	22100165
MIRT446952	hsa-miR-4436b-5p	PAR-CLIP	22100165
MIRT446951	hsa-miR-758-3p	PAR-CLIP	22100165
MIRT446950	hsa-miR-2113	PAR-CLIP	22100165
MIRT446949	hsa-miR-5010-3p	PAR-CLIP	22100165
MIRT446954	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT446953	hsa-miR-6509-3p	PAR-CLIP	22100165
MIRT446952	hsa-miR-4436b-5p	PAR-CLIP	22100165
MIRT446951	hsa-miR-758-3p	PAR-CLIP	22100165
MIRT446950	hsa-miR-2113	PAR-CLIP	22100165
MIRT446949	hsa-miR-5010-3p	PAR-CLIP	22100165
MIRT1546255	hsa-miR-3657	CLIP-seq
MIRT1546256	hsa-miR-3944-5p	CLIP-seq
MIRT1546257	hsa-miR-4292	CLIP-seq
MIRT1546258	hsa-miR-4308	CLIP-seq
MIRT1546259	hsa-miR-4669	CLIP-seq
MIRT1546260	hsa-miR-4707-5p	CLIP-seq
MIRT1546261	hsa-miR-548q	CLIP-seq
MIRT1546256	hsa-miR-3944-5p	CLIP-seq
MIRT1546257	hsa-miR-4292	CLIP-seq
MIRT1546258	hsa-miR-4308	CLIP-seq
MIRT1546260	hsa-miR-4707-5p	CLIP-seq
MIRT1546261	hsa-miR-548q	CLIP-seq
MIRT1546256	hsa-miR-3944-5p	CLIP-seq
MIRT1546257	hsa-miR-4292	CLIP-seq
MIRT1546258	hsa-miR-4308	CLIP-seq
MIRT1546260	hsa-miR-4707-5p	CLIP-seq
MIRT1546261	hsa-miR-548q	CLIP-seq
MIRT1546255	hsa-miR-3657	CLIP-seq
MIRT1546256	hsa-miR-3944-5p	CLIP-seq
MIRT1546257	hsa-miR-4292	CLIP-seq
MIRT1546258	hsa-miR-4308	CLIP-seq
MIRT1546259	hsa-miR-4669	CLIP-seq
MIRT1546260	hsa-miR-4707-5p	CLIP-seq
MIRT1546261	hsa-miR-548q	CLIP-seq
MIRT2436188	hsa-miR-544b	CLIP-seq
MIRT2499257	hsa-miR-1200	CLIP-seq
MIRT2499258	hsa-miR-1253	CLIP-seq
MIRT2499259	hsa-miR-125a-5p	CLIP-seq
MIRT2499260	hsa-miR-125b	CLIP-seq
MIRT2499261	hsa-miR-1270	CLIP-seq
MIRT2499262	hsa-miR-1273g	CLIP-seq
MIRT2499263	hsa-miR-140-5p	CLIP-seq
MIRT2499264	hsa-miR-3065-3p	CLIP-seq
MIRT2499265	hsa-miR-3158-3p	CLIP-seq
MIRT2499266	hsa-miR-3189-3p	CLIP-seq
MIRT2499267	hsa-miR-3545-5p	CLIP-seq
MIRT2499268	hsa-miR-362-5p	CLIP-seq
MIRT2499269	hsa-miR-3667-5p	CLIP-seq
MIRT2499270	hsa-miR-3691-3p	CLIP-seq
MIRT2499271	hsa-miR-3713	CLIP-seq
MIRT2499272	hsa-miR-4313	CLIP-seq
MIRT2499273	hsa-miR-4319	CLIP-seq
MIRT2499274	hsa-miR-4324	CLIP-seq
MIRT2499275	hsa-miR-4434	CLIP-seq
MIRT2499276	hsa-miR-4460	CLIP-seq
MIRT2499277	hsa-miR-4480	CLIP-seq
MIRT2499278	hsa-miR-4516	CLIP-seq
MIRT2499279	hsa-miR-4531	CLIP-seq
MIRT2499280	hsa-miR-4640-5p	CLIP-seq
MIRT2499281	hsa-miR-4726-5p	CLIP-seq
MIRT2499282	hsa-miR-4729	CLIP-seq
MIRT2499283	hsa-miR-500b	CLIP-seq
MIRT2499284	hsa-miR-501-5p	CLIP-seq
MIRT2436188	hsa-miR-544b	CLIP-seq
MIRT2499285	hsa-miR-563	CLIP-seq
MIRT2499286	hsa-miR-620	CLIP-seq
MIRT2499287	hsa-miR-9	CLIP-seq
MIRT2499257	hsa-miR-1200	CLIP-seq
MIRT2499258	hsa-miR-1253	CLIP-seq
MIRT2499259	hsa-miR-125a-5p	CLIP-seq
MIRT2499260	hsa-miR-125b	CLIP-seq
MIRT2499261	hsa-miR-1270	CLIP-seq
MIRT2499262	hsa-miR-1273g	CLIP-seq
MIRT2499263	hsa-miR-140-5p	CLIP-seq
MIRT2499264	hsa-miR-3065-3p	CLIP-seq
MIRT2499265	hsa-miR-3158-3p	CLIP-seq
MIRT2499266	hsa-miR-3189-3p	CLIP-seq
MIRT2499267	hsa-miR-3545-5p	CLIP-seq
MIRT2499268	hsa-miR-362-5p	CLIP-seq
MIRT2499269	hsa-miR-3667-5p	CLIP-seq
MIRT2499270	hsa-miR-3691-3p	CLIP-seq
MIRT2499271	hsa-miR-3713	CLIP-seq
MIRT2499272	hsa-miR-4313	CLIP-seq
MIRT2499273	hsa-miR-4319	CLIP-seq
MIRT2499274	hsa-miR-4324	CLIP-seq
MIRT2499275	hsa-miR-4434	CLIP-seq
MIRT2499276	hsa-miR-4460	CLIP-seq
MIRT2499277	hsa-miR-4480	CLIP-seq
MIRT2499278	hsa-miR-4516	CLIP-seq
MIRT2499279	hsa-miR-4531	CLIP-seq
MIRT2499280	hsa-miR-4640-5p	CLIP-seq
MIRT2677658	hsa-miR-4725-5p	CLIP-seq
MIRT2499281	hsa-miR-4726-5p	CLIP-seq
MIRT2499282	hsa-miR-4729	CLIP-seq
MIRT2677659	hsa-miR-4751	CLIP-seq
MIRT2499283	hsa-miR-500b	CLIP-seq
MIRT2499284	hsa-miR-501-5p	CLIP-seq
MIRT2677660	hsa-miR-504	CLIP-seq
MIRT2436188	hsa-miR-544b	CLIP-seq
MIRT2499285	hsa-miR-563	CLIP-seq
MIRT2499286	hsa-miR-620	CLIP-seq
MIRT2499287	hsa-miR-9	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0008150	Process	Biological_process	ND
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016477	Process	Cell migration	IBA	21873635
GO:0030246	Function	Carbohydrate binding	IEA
GO:0031012	Component	Extracellular matrix	TAS	10947988
GO:0048535	Process	Lymph node development	IEA
GO:0050840	Function	Extracellular matrix binding	IBA	21873635
GO:0060033	Process	Anatomical structure regression	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1990430	Function	Extracellular matrix protein binding	IBA	21873635
GO:2000353	Process	Positive regulation of endothelial cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
606064	18219	ENSG00000174807

Protein

UniProt ID

Q9HCU0

Protein name

Endosialin (Tumor endothelial marker 1) (CD antigen CD248)

Protein function

Cell surface glycoprotein involved in various biological processes including angiogenesis, immune response modulation, and tissue remodeling and repair. Participates in pericyte proliferation through positive modulation of the PDGF receptor sign

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00059	Lectin_C	40 → 158	Lectin C-type domain	Domain
PF14670	FXa_inhibition	235 → 271		Domain

Tissue specificity

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

MLLRLLLAWAAAGPTLGQDPWAAEPRAACGPSSCYALFPRRRTFLEAWRACRELGGDLAT
PRTPEEAQRVDSLVGAGPASRLLWIGLQRQARQCQLQRPLRGFTWTTGDQDTAFTNWAQP
ASGGPCPAQRCVALEASGEHRWLEGSCTLAVDGYLCQFGFEGACPALQDEAGQAGPAVYT
TPFHLVSTEFEWLPFGSVAAVQCQAGRGASLLCVKQPEGGVGWSRAGPLCLGTGCSPDNG
GCEHECVEEVDGHVSCRCTEGFRLAADGRSCEDPCAQAPCEQQCEPGGPQGYSCHCRLGF
RPAEDDPHRCVDTDECQIAGVCQQMCVNYVGGFECYCSEGHELEADGISCSPAGAMGAQA
SQDLGDELLDDGEDEEDEDEAWKAFNGGWTEMPGILWMEPTQPPDFALAYRPSFPEDREP
QIPYPEPTWPPPLSAPRVPYHSSVLSVTRPVVVSATHPTLPSAHQPPVIPATHPALSRDH
QIPVIAANYPDLPSAYQPGILSVSHSAQPPAHQPPMISTKYPELFPAHQSPMFPDTRVAG
TQTTTHLPGIPPNHAPLVTTLGAQLPPQAPDALVLRTQATQLPIIPTAQPSLTTTSRSPV
SPAHQISVPAATQPAALPTLLPSQSPTNQTSPISPTHPHSKAPQIPREDGPSPKLALWLP
SPAPTAAPTALGEAGLAEHSQRDDRWLLVALLVPTCVFLVVLLALGIVYCTRCGPHAPNK
RITDCYRWVIHAGSKSPTEPMPPRGSLTGVQTCRTSV

Sequence length

757

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Metabolic Syndrome	Metabolic Syndrome		GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining
Aortic Aneurysm	Stimulate	32867546
Aortic Aneurysm Thoracic	Associate	32867546
Arthritis	Associate	28793332
Arthritis Rheumatoid	Associate	27080864, 37298499
Bacteremia	Associate	10565924
Blood Coagulation Disorders	Associate	11084048
Bone Diseases	Associate	26300407
Bursitis	Stimulate	31013287
Carcinoma	Associate	27434038
Carcinoma Non Small Cell Lung	Associate	35985448
Colorectal Neoplasms	Stimulate	15761964, 39542103
Colorectal Neoplasms	Associate	21362178, 24980818
Coronary Artery Disease	Inhibit	32867546
Cytomegalovirus Infections	Associate	28615072
Disease	Associate	27080864
Familial Primary Pulmonary Hypertension	Associate	30679663
Fibrosarcoma	Associate	27434038
Glioma	Associate	18192970
Granulomatosis with Polyangiitis	Associate	28615072
Idiopathic Pulmonary Fibrosis	Stimulate	27080864
Infections	Associate	21924178
Inflammation	Inhibit	32867546
Inflammation	Associate	37298499
Keratoconus	Associate	32867823
Kidney Calculi	Stimulate	40253023
Kidney Diseases	Associate	27080864
Leiomyosarcoma	Associate	27434038
Neoplasm Metastasis	Associate	39542103
Neoplasms	Associate	11084048, 15761964, 15953677, 18187565, 18192970, 19440709, 21362178, 24980818, 26300407, 32076024, 35985448
Neoplasms	Stimulate	39542103
Neovascularization Pathologic	Associate	38087190
Osteosarcoma	Associate	26300407
Pulmonary Veno Occlusive Disease	Associate	30679663
Rectal Neoplasms	Associate	21362178
Rhabdomyosarcoma	Associate	27434038
Sarcoma	Associate	27434038
Sarcoma Synovial	Stimulate	27434038
Stomach Neoplasms	Stimulate	24716914
Tachycardia Atrioventricular Nodal Reentry	Associate	15761964
Tertiary Lymphoid Structures	Associate	39542103

CD248 (CD248 molecule)