TEK TEK receptor tyrosine kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: TEKprovided by HGNC
Official Full Name: TEK receptor tyrosine kinaseprovided by HGNC
Primary source: HGNC:HGNC:11724
See related: Ensembl:ENSG00000120156 MIM:600221; AllianceGenome:HGNC:11724
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TIE2; VMCM; GLC3E; TIE-2; VMCM1; CD202B
Summary: 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 fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
Expression: Broad expression in lung (RPKM 19.9), placenta (RPKM 18.9) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p21.2

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (27109141..27230178)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (27119713..27240739)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (27109139..27230176)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Title: Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Polymorphisms in TIE2 and ANGPT-1 genes are associated with protection against diabetic retinopathy in a Brazilian population.
Title: Polymorphisms in TIE2 and ANGPT-1 genes are associated with protection against diabetic retinopathy in a Brazilian population.
Hsa_circ_0070661 inhibits cancer progression through miR-556-5p/TEK axis in lung adenocarcinoma.
Title: Hsa_circ_0070661 inhibits cancer progression through miR-556-5p/TEK axis in lung adenocarcinoma.
[Expression of Tyrosine Kinase Receptor 2 in Oral Squamous Cell Carcinoma and the Effect on Cell Proliferation and Migration and Epithelial-Mesenchymal Transition Process].
Title: [Expression of Tyrosine Kinase Receptor 2 in Oral Squamous Cell Carcinoma and the Effect on Cell Proliferation and Migration and Epithelial-Mesenchymal Transition Process].
Tie2 Receptor in Tumor-Infiltrating Macrophages Is Dispensable for Tumor Angiogenesis and Tumor Relapse after Chemotherapy.
Title: Tie2 Receptor in Tumor-Infiltrating Macrophages Is Dispensable for Tumor Angiogenesis and Tumor Relapse after Chemotherapy.
Increased frequency of proangiogenic tunica intima endothelial kinase 2 (Tie2) expressing monocytes in individuals with type 2 diabetes mellitus.
Title: Increased frequency of proangiogenic tunica intima endothelial kinase 2 (Tie2) expressing monocytes in individuals with type 2 diabetes mellitus.
Angpt2/Tie2 autostimulatory loop controls tumorigenesis.
Title: Angpt2/Tie2 autostimulatory loop controls tumorigenesis.
Tie2-expressing monocytes/macrophages promote cerebral revascularization in peri-infarct lesions upon ischemic insult.
Title: Tie2-expressing monocytes/macrophages promote cerebral revascularization in peri-infarct lesions upon ischemic insult.
SIRT7 interacts with TEK (TIE2) to promote adriamycin induced metastasis in breast cancer.
Title: SIRT7 interacts with TEK (TIE2) to promote adriamycin induced metastasis in breast cancer.
The Angiopoietin-Tie2 axis contributes to placental vascular disruption and adverse birth outcomes in malaria in pregnancy.
Title: The Angiopoietin-Tie2 axis contributes to placental vascular disruption and adverse birth outcomes in malaria in pregnancy.

Submit: New GeneRIF Correction See all GeneRIFs (234)

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

Associated conditions

Description	Tests
Glaucoma 3, primary congenital, E MedGen: C4310639 OMIM: 617272 GeneReviews: Primary Congenital Glaucoma	Compare labs
Glaucoma 3, primary infantile, B MedGen: C1832977 OMIM: 600975 GeneReviews: Primary Congenital Glaucoma	Compare labs
Multiple cutaneous and mucosal venous malformations MedGen: C1838437 OMIM: 600195 GeneReviews: TEK-Related Venous Malformations	Compare labs

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68989 (e-PCR)
- UniSTS:23344

SHGC-12831 (e-PCR)
- UniSTS:78903

G10657 (e-PCR)
- UniSTS:38250

TEK (e-PCR), detects polymorphism
- UniSTS:279460

SHGC-106556 (e-PCR)
- UniSTS:169901

SHGC-142431 (e-PCR)
- UniSTS:171454

TEK (e-PCR), detects polymorphism
- UniSTS:513742

Tek (e-PCR), detects polymorphism
- UniSTS:144602

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables growth factor binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	TAS Traceable Author Statement more info	PubMed
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed
enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in Tie signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in angiogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in definitive hemopoiesis	TAS Traceable Author Statement more info	PubMed
involved_in endochondral ossification	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell proliferation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in endothelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in glomerulus vasculature development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart trabecula formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of endothelial cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of inflammatory response	TAS Traceable Author Statement more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell migration	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of focal adhesion assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intracellular signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of endothelial cell apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of establishment or maintenance of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vascular permeability	TAS Traceable Author Statement more info	PubMed
involved_in response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in transmembrane receptor protein tyrosine kinase signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with actin filament	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
colocalizes_with stress fiber	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: angiopoietin-1 receptor

Names: TEK tyrosine kinase, endothelial; 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

NP_000450.3

EC 2.7.10.1

NP_001277006.1

EC 2.7.10.1

NP_001277007.1

EC 2.7.10.1

NP_001362404.1

EC 2.7.10.1

NP_001362405.1

EC 2.7.10.1

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.

Genomic

NG_011828.2 RefSeqGene

Range

5086..126035

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000459.5 → NP_000450.3 angiopoietin-1 receptor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL133411, AL355432, AL355433

Consensus CDS

CCDS6519.1

UniProtKB/Swiss-Prot

A8K6W0, B4DH20, B4DHD3, D3DRK5, E7EWI2, Q02763, Q5TCU2, Q8IV34

UniProtKB/TrEMBL

Q59HG2

Related

ENSP00000369375.4, ENST00000380036.10

Conserved Domains (6) summary

cd05088
Location:816 → 1118

PTKc_Tie2; Catalytic domain of the Protein Tyrosine Kinase, Tie2

cd00055
Location:230 → 275

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00063
Location:639 → 731

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:544 → 626

fn3; Fibronectin type III domain

pfam10430
Location:24 → 118

Ig_Tie2_1; Tie-2 Ig-like domain 1

cd20964
Location:348 → 439

IgI_Tie2; Immunoglobulin domain of Tie2 tyrosine kinase; a member of the I-set of IgSF domains
NM_001290077.1 → NP_001277006.1 angiopoietin-1 receptor isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AK294887, AK295043, AL133411, AL355432, AL355433, BU753127

Consensus CDS

CCDS75825.1

UniProtKB/Swiss-Prot

Q02763

UniProtKB/TrEMBL

Q59HG2

Related

ENSP00000383977.4, ENST00000406359.8

Conserved Domains (6) summary

cd05088
Location:773 → 1075

PTKc_Tie2; Catalytic domain of the Protein Tyrosine Kinase, Tie2

smart00221
Location:781 → 1049

STYKc; Protein kinase; unclassified specificity

cd00055
Location:230 → 275

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00063
Location:596 → 688

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:501 → 583

fn3; Fibronectin type III domain

pfam10430
Location:24 → 118

Ig_Tie2_1; Tie-2 Ig-like domain 1
NM_001290078.1 → NP_001277007.1 angiopoietin-1 receptor isoform 3 precursor

See identical proteins and their annotated locations for NP_001277007.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons and uses an alternate in-frame splice site in the coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AK294887, AL133411, AL355432, AL355433, BU753127

Consensus CDS

CCDS78389.1

UniProtKB/Swiss-Prot

Q02763

UniProtKB/TrEMBL

Q59HG2

Related

ENSP00000430686.1, ENST00000519097.5

Conserved Domains (5) summary

cd05088
Location:668 → 970

PTKc_Tie2; Catalytic domain of the Protein Tyrosine Kinase, Tie2

smart00221
Location:676 → 944

STYKc; Protein kinase; unclassified specificity

cd00055
Location:126 → 171

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00063
Location:492 → 584

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:397 → 479

fn3; Fibronectin type III domain
NM_001375475.1 → NP_001362404.1 angiopoietin-1 receptor isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AL133411, AL355432, AL355433

UniProtKB/TrEMBL

Q59HG2

Conserved Domains (4) summary

cd05088
Location:815 → 1117

PTKc_Tie2; Catalytic domain of the Protein Tyrosine Kinase, Tie2

cd00055
Location:230 → 275

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam10430
Location:24 → 118

Ig_Tie2_1; Tie-2 Ig-like domain 1

pfam00041
Location:640 → 723

fn3; Fibronectin type III domain
NM_001375476.1 → NP_001362405.1 angiopoietin-1 receptor isoform 5 precursor

Status: REVIEWED

Source sequence(s)

AL133411, AL355432, AL355433

UniProtKB/TrEMBL

Q59HG2

Conserved Domains (4) summary

cd05088
Location:772 → 1074

PTKc_Tie2; Catalytic domain of the Protein Tyrosine Kinase, Tie2

cd00055
Location:230 → 275

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam10430
Location:24 → 118

Ig_Tie2_1; Tie-2 Ig-like domain 1

pfam00041
Location:597 → 680

fn3; Fibronectin type III domain