SHANK2

Last update 08 May 2025

Basic Info

Synonyms

Cortactin-binding protein 1, CORTBP1, CTTNBP1

+ [8]

Introduction

Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction.

100 Clinical Results associated with SHANK2

100 Translational Medicine associated with SHANK2

0 Patents (Medical) associated with SHANK2

546

Literatures (Medical) associated with SHANK2

01 Jun 2025·European Journal of Medical Genetics

Paracentric inversion disrupting the SHANK2 gene

Article

Author: Christiaenssen, Bregje ; Kooy, R Frank ; Van den Ende, Jenneke ; Huyghebaert, Jolien ; Vandeweyer, Geert ; Annear, Dale ; De Rademaeker, Marjan ; Mateiu, Ligia

In this study, we employed a multifaceted approach combining short-read whole genome sequencing (WGS) analyzed using Delly, cytogenomics using Bionano technology, and Sanger sequencing to identify the breakpoints of a balanced de novo paracentric inversion on chromosome 11, spanning approximately 64 Mb (inv11q13.3; q25). This inversion was discovered in a girl who presented with mild intellectual disability (ID), speech and language delays, a delay in motor development and attention deficit hyperactivity disorder (ADHD). Detailed analysis of the breakpoints revealed the disruption of two genes; SHANK2, which is critical for encoding a postsynaptic scaffolding protein at glutamatergic synapses in the brain, and LINC02714, a long non-coding RNA (lncRNA). Although SHANK2 is not listed in the OMIM database as a causative gene to this date, literature reports at least 21 cases where (likely) pathogenic variants in SHANK2 have been identified in patients with neurodevelopmental disorders (NDDs). A loss of function variant of the SHANK2 gene is in line with the clinical presentation of this patient. No additional genetic variants that could explain her phenotype were identified. In conclusion, by combining WGS, cytogenomics and Sanger sequencing techniques, we identified the exact breakpoints of a large inversion providing a likely molecular diagnosis for our patient.

01 Apr 2025·American Journal of Medical Genetics Part A

Chronic Catatonia in an Individual With a De Novo Missense SHANK1 Variant

Article

Author: Dahlberg, Paige M. ; Lloyd Holder, J. ; Harris, Holly K.

ABSTRACTSHANK1 encodes a scaffolding protein of the SHANK family that includes SHANK1, SHANK2 and SHANK3. All of the SHANK proteins are enriched at the post‐synaptic density of excitatory synapses. Here, we present an 11‐year‐old boy with a history of developmental delays and no family history of psychiatric disorders who developed catatonia. MRI of his brain and spine were negative as was a workup for autoimmune encephalitis. The proband's genetic testing revealed a de novo heterozygous SHANK1 missense variant. Although catatonia has been reported previously in individuals with SHANK3 loss‐of‐function mutations, this is the first time catatonia has been described in an individual with a SHANK1 variant.

01 Feb 2025·European Child & Adolescent Psychiatry

Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant

Letter

Author: Ciaccio, Claudia ; Magazù, Santina ; Granocchio, Elisa ; Andreoli, Luca ; Murgia, Alessandra ; Sarti, Daniela ; Leonardi, Emanuela

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SHANK2

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