Everything about SCN2A
Protein-coding gene in the species Homo sapiens
Sodium channel protein type 2 subunit alpha, also known as Nav1.2, is an ion channel protein encoded by the SCN2A gene in humans. It represents one member of the sodium channel alpha subunit gene family. The SCN2A gene is located on chromosome 2 (2q24.3) in proximity to two other voltage-gated sodium channel genes, namely SCN1A and SCN9A. Nav1.2 is distributed throughout the human central nervous system where it plays a major role in the initiation and propagation of action potentials. It is absent from peripheral tissues, with the exception of enteric neurons. Pathologic mutations in the SCN2A gene cause a broad spectrum of neurological conditions, such as epilepsy, autism spectrum disorder (ASD), intellectual disability (ID) and/or developmental delay, called SCN2A-related disorders. Wikipedia →
🧭 Start here: a 6-step reading path
- Read the overview: SCN2AA 5-minute orientation
- Skim a recent paper: Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional propertiesInfluential work since 2022
- Pick up a classic book: Melatonin after four decadesThe most-reprinted book on the subject
- Read the landmark paper: Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disordersCited 604 times
- Go sideways: SCN1AA closely related topic
- Go sideways: Paralytic (gene)A closely related topic
📖 Definitions
No dictionary entry for this exact phrase.
🗂️ The subject at a glance
🏆 Landmark papers (most cited)
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Progress in Understanding and Treating SCN2A-Mediated Disorders
Opposing Effects on Na V 1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures
The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex
Sodium channels SCN1A, SCN2A and SCN3A in familial autism
SCN2A encephalopathy
A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities
De novo mutations of voltage-gated sodium channel α II gene SCN2A in intractable epilepsies
🆕 Influential since 2022
Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties
Microglial over-pruning of synapses during development in autism-associated SCN2A-deficient mice and human cerebral organoids
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders
Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites
📚 Books worth reading
Melatonin after four decadesJames Olcese · 1999- 📕SCN2A-Related DisordersMegan Abbott, Kevin J. Bender · 2024
- 📕Strukturelle und kristallphysikalische Charakterisierung der komplexen Thiosulfate vom Typ A₉[B(S₂O₃)₄]X₂Peter Held · 1994
Ranked by number of editions on Open Library, a rough measure of how lasting a book is.
🔗 Related topics
- SCN1A Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene. The SCN1A gene is located on chromosome…
- Paralytic (gene) Paralytic is a gene in the fruit fly, Drosophila melanogaster, which encodes a voltage gated sodium channel within D. melanogaster neurons. This gene is…
- Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy…
- Dravet syndrome Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic…
- SCN1B Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene. Voltage-gated sodium channels are essential for the generation…
- Sodium channel Sodium channels are integral membrane proteins that form ion channels, conducting sodium ions (Na+) through a cell's membrane. They belong to the superfamily…
- SCN3A Sodium channel, voltage-gated, type III, alpha subunit (SCN3A) is a protein that in humans is encoded by the SCN3A gene. Voltage-gated sodium channels…
- SCN9A Sodium voltage-gated channel alpha subunit 9 (also Nav1.7) is a sodium ion channel that, in humans, is encoded by the SCN9A gene. It is usually expressed…