Developmental Brain Disorder Gene Database
LoF Variant Gene
Gene
Search
Tier
4
- Unique Cases:
- 4
- Disorders:
- ID, ASD, EP
- Last Updated:
- January 24, 2024
Gene Summary:
- DBD Genes Classification
- ANK3 is an Emerging candidate gene classified as Tier 4. Tier 4 genes no de novo pathogenic loss-of-function variants.
- Gene Function
- Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments (PubMed:7836469). In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368). Required for intracellular adhesion and junctional conduc... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- No alias sybmols
- Chromosomal Location
- 10q21.2
- Genomic Coordinates
- GRCh37:chr10:61786056-62493284
- GRCh38:chr10:60026298-60733528
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy
Cases:
Publications:
Guo H et. al., Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model., Mol Autism, 2018 |
Hu H et. al., Genetics of intellectual disability in consanguineous families., Mol Psychiatry, 2019 |
Wang T et. al., De novo genic mutations among a Chinese autism spectrum disorder cohort., Nat Commun, 2016 |
Grozeva D et. al., Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability., Hum Mutat, 2015 |
External References:
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.