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_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (27109225..27230174)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (27119797..27240735)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (27109223..27230172)

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 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?

TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
Title: TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
Genetic association of TIE2 with diabetic retinopathy and diabetic macular edema.
Title: Genetic association of TIE2 with diabetic retinopathy and diabetic macular edema.
TIE2 expression in hypertensive ICH and its therapeutic modulation with AKB-9778: Implications for brain vascular health.
Title: TIE2 expression in hypertensive ICH and its therapeutic modulation with AKB-9778: Implications for brain vascular health.
Type I Interferons induce endothelial destabilization in Systemic Lupus Erythematosus in a Tie2-dependent manner.
Title: Type I Interferons induce endothelial destabilization in Systemic Lupus Erythematosus in a Tie2-dependent manner.
Expression of Tie2 (angiopoietin receptor) on the monocyte subpopulations from ischemic stroke patients: Histological and flowcytometric studies.
Title: Expression of Tie2 (angiopoietin receptor) on the monocyte subpopulations from ischemic stroke patients: Histological and flowcytometric studies.
METTL3-Mediated RNA m6A Modification Regulates the Angiogenic Behaviors of Retinal Endothelial Cells by Methylating MMP2 and TIE2.
Title: METTL3-Mediated RNA m6A Modification Regulates the Angiogenic Behaviors of Retinal Endothelial Cells by Methylating MMP2 and TIE2.
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].

Submit: New GeneRIF Correction See all GeneRIFs (240)

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	not available
Glaucoma 3, primary infantile, B MedGen: C1832977 OMIM: 600975 GeneReviews: Primary Congenital Glaucoma	not available
Multiple cutaneous and mucosal venous malformations MedGen: C1838437 OMIM: 600195 GeneReviews: TEK-Related Venous Malformations	not available

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 GPI-linked ephrin receptor activity	IEA Inferred from Electronic Annotation more info
enables boss receptor activity	IEA Inferred from Electronic Annotation more info
enables brain-derived neurotrophic factor receptor activity	IEA Inferred from Electronic Annotation more info
enables epidermal growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables fibroblast growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables growth factor binding	IEA Inferred from Electronic Annotation more info
enables hepatocyte growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3Y41 kinase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables insulin receptor activity	IEA Inferred from Electronic Annotation more info
enables insulin-like growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables macrophage colony-stimulating factor receptor activity	IEA Inferred from Electronic Annotation more info
enables placental growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor alpha-receptor activity	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor beta-receptor activity	IEA Inferred from Electronic Annotation more info
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 collagen receptor activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed
enables stem cell factor receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane receptor protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane-ephrin receptor activity	IEA Inferred from Electronic Annotation more info
enables vascular endothelial growth factor receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Kit signaling pathway	IEA Inferred from Electronic Annotation more info
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
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in brain-derived neurotrophic factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in collagen-activated tyrosine kinase receptor signaling pathway	IEA Inferred from Electronic Annotation more info
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
involved_in endothelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ephrin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in epidermal growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation 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 hepatocyte growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in insulin-like growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in macrophage colony-stimulating factor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
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 platelet-derived growth factor receptor-alpha signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in platelet-derived growth factor receptor-beta signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within_positive_effect 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
involved_in positive regulation of Rac protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Rho protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
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
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 phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within_positive_effect 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	IMP Inferred from Mutant Phenotype 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 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 vascular endothelial growth factor receptor-1 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in vascular endothelial growth factor signaling pathway	IEA Inferred from Electronic Annotation more info

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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
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
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_001277006.2

EC 2.7.10.1

NP_001277007.2

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

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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_001290077.2 → NP_001277006.2 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)

AL133411, AL355432, AL355433

Consensus CDS

CCDS75825.1

Related

ENSP00000383977.4, ENST00000406359.8
NM_001290078.2 → NP_001277007.2 angiopoietin-1 receptor isoform 3 precursor

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)

AL133411, AL355432, AL355433

Consensus CDS

CCDS78389.1

Related

ENSP00000430686.1, ENST00000519097.5
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