TANC2 Chromosome 17
Tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
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What This Gene Does
Predicted to be a structural constituent of postsynaptic density. Predicted to be involved in dense core granule cytoskeletal transport; regulation of dendritic spine development; and regulation of dendritic spine morphogenesis. Predicted to act upstream of or within in utero embryonic development. Located in dendritic spine. Implicated in intellectual developmental disorder with autistic features and language delay, with or without seizures. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Tetratricopeptide repeat domain containing"
Locus Type
gene with protein product
Location
17q23.2-q23.3
Ensembl
ENSG00000170921
Associated Conditions (12)
Inborn genetic diseases
Intellectual developmental disorder with autistic features and language delay
with or without seizures
Autism spectrum disorder
Epilepsy
Developmental delay
Neurodevelopmental disorder
Intellectual disability
TANC2-related disorder
Intellectual Disability with multiple congenital anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES
Key Variants
RS199541150
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder with autistic features and language delay, with or without seizures
Health Risk
RS2147427904
Conflicting classifications of pathogenicity
Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual developmental disorder with autistic features and language delay
Health Risk
RS370855180
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372829353
Conflicting classifications of pathogenicity
Intellectual developmental disorder with autistic features and language delay, with or without seizures, Inborn genetic diseases
Health Risk
RS373945647
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder with autistic features and language delay, with or without seizures
Health Risk
RS376858983
Conflicting classifications of pathogenicity
Intellectual developmental disorder with autistic features and language delay, with or without seizures, Inborn genetic diseases
Health Risk
RS61743014
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS753217237
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS778414080
Conflicting classifications of pathogenicity
Autism spectrum disorder, Inborn genetic diseases, Autism spectrum disorder
Health Risk
RS968360568
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder with autistic features and language delay, with or without seizures
Health Risk
RS2046598826
Likely pathogenic
Epilepsy, Epilepsy
Health Risk
RS2046750269
Likely pathogenic
Developmental delay, Developmental delay
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199541150 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with autistic features and language delay, with or without seizures |
| RS2147427904 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual developmental disorder with autistic features and language delay |
| RS370855180 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372829353 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Inborn genetic diseases |
| RS373945647 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with autistic features and language delay, with or without seizures |
| RS376858983 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Inborn genetic diseases |
| RS61743014 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753217237 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778414080 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder, Inborn genetic diseases, Autism spectrum disorder |
| RS968360568 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with autistic features and language delay, with or without seizures |
| RS2046598826 | Health Risk | Likely pathogenic | Epilepsy, Epilepsy |
| RS2046750269 | Health Risk | Likely pathogenic | Developmental delay, Developmental delay |
| RS2047893330 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2048499808 | Health Risk | Likely pathogenic | — |
| RS2048501596 | Health Risk | Likely pathogenic | — |
| RS2048707664 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2048834387 | Health Risk | Likely pathogenic | Developmental delay, Epilepsy, Developmental delay |
| RS2048929422 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2048999762 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2049017627 | Health Risk | Likely pathogenic | Developmental delay, Developmental delay |
| RS2147079960 | Health Risk | Likely pathogenic | — |
| RS2147425882 | Health Risk | Likely pathogenic | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual developmental disorder with autistic features and language delay |
| RS2509607298 | Health Risk | Likely pathogenic | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual disability |
| RS2510080382 | Health Risk | Likely pathogenic | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual developmental disorder with autistic features and language delay |
| RS2510098307 | Health Risk | Likely pathogenic | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual developmental disorder with autistic features and language delay |
| RS2510349919 | Health Risk | Likely pathogenic | TANC2-related disorder, TANC2-related disorder |
| RS2510609298 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2510632551 | Health Risk | Likely pathogenic | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual developmental disorder with autistic features and language delay |
| RS780968730 | Health Risk | Likely pathogenic | Intellectual Disability with multiple congenital anomalies, Intellectual Disability with multiple congenital anomalies |
| RS866345446 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1229328527 | Health Risk | Pathogenic | — |
| RS1468782400 | Health Risk | Pathogenic | — |
| RS2045256930 | Health Risk | Pathogenic | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES, Neurodevelopmental disorder, Autism spectrum disorder |
| RS2048464266 | Health Risk | Pathogenic | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES, Autism spectrum disorder, Intellectual developmental disorder with autistic features and language delay |
| RS2048703168 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2146269292 | Health Risk | Pathogenic | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual developmental disorder with autistic features and language delay |
| RS2147151004 | Health Risk | Pathogenic | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual developmental disorder with autistic features and language delay |
| RS2147417847 | Health Risk | Pathogenic | — |
| RS2510205603 | Health Risk | Pathogenic | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual developmental disorder with autistic features and language delay |
| RS2510284231 | Health Risk | Pathogenic | — |
| RS2510300272 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2510489906 | Health Risk | Pathogenic | Intellectual developmental disorder with autistic features and language delay, with or without seizures, Intellectual developmental disorder with autistic features and language delay |
| RS755043110 | Health Risk | Pathogenic | — |
| RS1419550439 | Health Risk | Pathogenic/Likely pathogenic | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES, Autism spectrum disorder, INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES |
| RS2048988947 | Health Risk | Pathogenic/Likely pathogenic | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES, Neurodevelopmental disorder, INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES |
| RS2048990416 | Health Risk | Pathogenic/Likely pathogenic | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES, Developmental delay, Intellectual disability |
| RS764041869 | Health Risk | Pathogenic/Likely pathogenic | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES, Neurodevelopmental disorder, INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES |