TEK (TEK receptor tyrosine kinase)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7010
Gene name Gene Name - the full gene name approved by the HGNC.
TEK receptor tyrosine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TEK
Synonyms (NCBI Gene) Gene synonyms aliases
CD202B, GLC3E, TIE-2, TIE2, VMCM, VMCM1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fib
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs80338908 C>T Pathogenic Coding sequence variant, missense variant
rs80338909 A>C,G Pathogenic Coding sequence variant, missense variant
rs202131936 G>A,C,T Likely-pathogenic Missense variant, coding sequence variant
rs387906745 G>A Pathogenic Missense variant, coding sequence variant
rs541217363 C>A,T Pathogenic Synonymous variant, coding sequence variant, intron variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT006883 hsa-miR-126-3p Luciferase reporter assay, qRT-PCR, Western blot 22867989
MIRT1417953 hsa-miR-19a CLIP-seq
MIRT1417954 hsa-miR-19b CLIP-seq
MIRT1417955 hsa-miR-548a-3p CLIP-seq
MIRT1417956 hsa-miR-548e CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
ELF1 Activation 19674970
ELF2 Activation 10347098
GATA3 Activation 19674970
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(92)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IBA
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis ISS
GO:0001725 Component Stress fiber IDA 18425119
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600221 11724 ENSG00000120156
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q02763
Protein name Angiopoietin-1 receptor (EC 2.7.10.1) (Endothelial tyrosine kinase) (Tunica interna endothelial cell kinase) (Tyrosine kinase with Ig and EGF homology domains-2) (Tyrosine-protein kinase receptor TEK) (Tyrosine-protein kinase receptor TIE-2) (hTIE2) (p140
Protein function Tyrosine-protein kinase that acts as a cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, bu
PDB 1FVR , 2GY5 , 2GY7 , 2OO8 , 2OSC , 2P4I , 2WQB , 3BEA , 3L8P , 4K0V , 4X3J , 5MYA , 5MYB , 5UTK , 6MWE , 7E72
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10430 Ig_Tie2_1 24 → 118 Tie-2 Ig-like domain 1 Domain
PF00041 fn3 445 → 530 Fibronectin type III domain Domain
PF00041 fn3 544 → 626 Fibronectin type III domain Domain
PF00041 fn3 640 → 724 Fibronectin type III domain Domain
PF07714 PK_Tyr_Ser-Thr 824 → 1092 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in umbilical vein endothelial cells. Proteolytic processing gives rise to a soluble extracellular domain that is detected in blood plasma (at protein level). Predominantly expressed in endothelial cells and their progenitors,
Sequence 
MDSLASLVLCGVSLLLSGTVEGAMDLILINSLPLVSDAETSLTCIASGWRPHEPITIGRD
FEALMNQHQDPLEVTQDVTREWAKKVVWKREKASKINGAYFCEGRVRGEAIRIRTMKMRQ
QASFLPATLTMTVDKGDNVNISFKKVLIKEEDAVIYKNGSFIHSVPRHEVPDILEVHLPH
AQPQDAGVYSARYIGGNLFTSAFTRLIVRRCEAQKWGPECNHLCTACMNNGVCHEDTGEC
ICPPGFMGRTCEKACELHTFGRTCKERCSGQEGCKSYVFCLPDPYGCSCATGWKGLQCNE
ACHPGFYGPDCKLRCSCNNGEMCDRFQGCLCSPGWQGLQCEREGIQRMTPKIVDLPDHIE
VNSGKFNPICKASGWPLPTNEEMTLVKPDGTVLHPKDFNHTDHFSVAIFTIHRILPPDSG
VWVCSVNTVAGMVEKPFNISVKVLPKPLNAPNVIDTGHNFAVINISSEPYFGDGPIKSKK
LLYKPVNHYEAWQHIQVTNEIVTLNYLEPRTEYELCVQLVRRGEGGEGHPGPVRRFTTAS
IGLPPPRGLNLLPKSQTTLNLTWQPIFPSSEDDFYVEVERRSVQKSDQQNIKVPGNLTSV
LLNNLHPREQYVVRARVNTKAQGEWSEDLTAWTLSDILPPQPENIKISNITHSSAVISWT
ILDGYSISSITIRYKVQGKNEDQHVDVKIKNATITQYQLKGLEPETAYQVDIFAENNIGS
SNPAFSHELVTLPESQAPADLGGGKMLLIAILGSAGMTCLTVLLAFLIILQLKRANVQRR
MAQAFQNVREEPAVQFNSGTLALNRKVKNNPDPTIYPVLDWNDIKFQDVIGEGNFGQVLK
ARIKKDGLRMDAAIKRMKEYASKDDHRDFAGELEVLCKLGHHPNIINLLGACEHRGYLYL
AIEYAPHGNLLDFLRKSRVLETDPAFAIANSTASTLSSQQLLHFAADVARGMDYLSQKQF
IHRDLAARNILVGENYVAKIADFGLSRGQEVYVKKTMGRLPVRWMAIESLNYSVYTTNSD
VWSYGVLLWEIVSLGGTPYCGMTCAELYEKLPQGYRLEKPLNCDDEVYDLMRQCWREKPY
ERPSFAQILVSLNRMLEERKTYVNTTLYEKFTYAGIDCSAEEAA
Sequence length 1124
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
HIF-1 signaling pathway
PI3K-Akt signaling pathway
Rheumatoid arthritis 		  Tie2 Signaling
RAF/MAP kinase cascade
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Glaucoma glaucoma 3, primary congenital, e rs541217363, rs753021890, rs1587545234 N/A
Blue Rubber Bleb Nevus blue rubber bleb nevus rs80338909 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital glaucoma primary congenital glaucoma N/A N/A GenCC
Coronary artery disease Coronary artery disease N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Venous malformation multiple cutaneous and mucosal venous malformations N/A N/A GenCC
Show/Hide Text Mining Associations (102)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Associate 23383853
Adenocarcinoma of Lung Associate 33979320, 34039311, 35635202, 37005879
Adenoma Pleomorphic Associate 33727696
Alveolar capillary dysplasia Associate 35649494
Arteriovenous Malformations Associate 21962923
Arthritis Associate 23982963
Arthritis Psoriatic Associate 31864394
Arthritis Rheumatoid Associate 10913057, 21858161, 23982963, 24404127, 29843785
Arthritis Rheumatoid Stimulate 12010571
Ascites Associate 30118648