TNS2
Homo sapiens
Gene Name: tensin 2
Aliases: C1-TEN, C1TEN, TENC1
Chromosome No: 12
Chromosome Band: 12q13.13
Genetic Category: Rare single gene variant
Aliases: C1-TEN, C1TEN, TENC1
Chromosome No: 12
Chromosome Band: 12q13.13
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 2
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Integration of familial whole-exome datasets of 3,531 individuals from 1,704 simplex ASD families and 50 multiplex ASD families and expression data from the BrainSpan Atlas of the Developmental Human Brain in Luo et al., 2020 identified a neurodevelopmentally co-regulated, sex-differentially expressed cluster of exons enriched with ASD-segregating deleterious variants in the TNS2 gene (Bonferroni-corrected cluster P-value of 7.12E-03).
Molecular Function
The protein encoded by this gene belongs to the tensin family. Tensin is a focal adhesion molecule that binds to actin filaments and participates in signaling pathways. This protein plays a role in regulating cell migration.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia
ASD
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1216R008
frameshift_variant
c.1617_1618insTG
p.Arg540CysfsTer17
Familial
Paternal
Multiplex
GEN1216R009
missense_variant
c.3227A>G
p.Asn1076Ser
De novo
Simplex
Common
No Common Variants Available