TNS2tensin 2
Autism Reports / Total Reports
4 / 4Rare Variants / Common Variants
8 / 0Aliases
TNS2, C1-TEN, C1TEN, TENC1Associated Syndromes
-Chromosome Band
12q13.13Associated Disorders
-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
SFARI Genomic Platforms
Reports related to TNS2 (4 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia | Luo Y et al. (2020) | Yes | - |
| 2 | Support | - | Zhou X et al. (2022) | Yes | - |
| 3 | Support | - | Wang J et al. (2023) | Yes | - |
| 4 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (8)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.1225+34del | - | intron_variant | Familial | - | - | 32778826 | Luo Y et al. (2020) | |
| c.3423C>A | p.Tyr1141Ter | stop_gained | Familial | - | - | 32778826 | Luo Y et al. (2020) | |
| c.3271G>A | p.Gly1091Arg | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.723C>T | p.Cys241%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.2638G>T | p.Ala880Ser | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.2446C>A | p.Pro816Thr | missense_variant | De novo | - | Simplex | 37393044 | Wang J et al. (2023) | |
| c.197C>T | p.Thr66Ile | missense_variant | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
| c.1617_1618insTG | p.Arg540CysfsTer17 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Suggestive Evidence
Score Delta: Score remained at 3
criteria met
See SFARI Gene'scoring criteriaThe literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.
4/1/2022
