Developmental Brain Disorder Gene Database

LoF Variant Gene

Gene
Search

Tier

1

SHANK2

HGNC:14295 (protein-coding gene)

SH3 and multiple ankyrin repeat domains 2

Unique Cases:
12
Disorders:
ID, ASD, SCZ
Last Updated:
May 1, 2021

Gene Summary:

DBD Genes Classification
SHANK2 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
Gene Function
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. (Source: Uniprot)
Previous symbols
CORTBP1
Alias symbols
CTTNBP1, ProSAP1, SHANK, SPANK-3
Chromosomal Location
11q13.3-q13.4
Genomic Coordinates
GRCh37:chr11:70313961-70935842
GRCh38:chr11:70467854-71252724
Associated Disorders
Intellectual Disability, Autism

Predictive Scores:

HI Score (Decipher)

45.57

pLI (gnomAD)

0.00

LOEUF (gnomAD)

0.46

Classifications from External Sources:

SFARI Score (SFARI)

1

DDG2P Classification (DDG2P)

Strong

ClinGen Classification (ClinGen)

Definitive1

GenCC Classification (GenCC)

Strong2 Definitive1

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
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