Human Gene Module / Chromosome 9 / TEK

TEKTEKreceptortyrosine kinase

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
1 / 0
Aliases
TEK, CD202B,  GLC3E,  TIE-2,  TIE2,  VMCM,  VMCM1
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
9p21.2
Associated Disorders
-
Relevance to Autism

A de novo missense variant that was predicted to be possibly damaging (defined as 1 MPC < 2) was identified in the TEK gene in an ASD proband from the Autism Sequencing Consortium, while three protein-truncating variants in this gene were subsequently observed in case samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified TEK as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).

Molecular Function

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.

Reports related to TEK (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
Rare Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.2789A>G p.Asn930Ser missense_variant De novo NA Multiplex 31981491 Satterstrom FK et al. (2020)
Common Variants  

No common variants reported.

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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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