Scn2a - sodium voltage-gated channel alpha subunit 2 Gene
Also Known as SCN; ScpII; NachII; Nav1.2; Scn2a1; Scn2a2; RII/RIIA; RNSCPIIR
Species: Rattus norvegicus
About Scn2a
This gene has 5 transcripts (splice variants), 130 orthologues, 26 paralogues and is associated with 41 phenotypes. Restricted expression toward (RPKM 552.3).
Summary
Voltage-gated sodium channels are Transmembrane Glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the Sodium Channel alpha subunit gene family. In humans, variants of this gene are associated with seizure disorders and autism spectrum disorder. Mice homozygous for a knockout mutation die with severe hypoxia and extensive neuronal cell death, while gain of function mutations result in progressive seizure disorder. [provided by RefSeq, Nov 2016]
Scn2a Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_012647.2 | NP_036779.2 | sodium channel protein type 2 subunit alpha |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables leucine zipper domain binding |
IPI
IPI: Inferred from physical interaction
|
17360357 | RGD |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10737807 | RGD |
| enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential |
IDA
IDA: Inferred from direct assay
|
25615535 | RGD |
| enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential |
IMP
IMP: Inferred from mutant phenotype
|
25615535 | RGD |
| enables voltage-gated sodium channel activity |
IDA
IDA: Inferred from direct assay
|
2442385 | RGD |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in axon development |
IEP
IEP: Inferred from expression pattern
|
22473424 | RGD |
| involved in cellular response to hypoxia |
IDA
IDA: Inferred from direct assay
|
28029095 | RGD |
| involved in cerebral cortex development |
IEP
IEP: Inferred from expression pattern
|
22473424 | RGD |
| involved in corpus callosum development |
IEP
IEP: Inferred from expression pattern
|
22473424 | RGD |
| involved in myelination |
IEP
IEP: Inferred from expression pattern
|
16652168 | RGD |
| involved in neuronal action potential |
IDA
IDA: Inferred from direct assay
|
15917456 | RGD |
| involved in optic nerve development |
IEP
IEP: Inferred from expression pattern
|
22473424 | RGD |
| involved in sodium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
28029095 | RGD |
| involved in sodium ion transport |
IDA
IDA: Inferred from direct assay
|
2442385 | RGD |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axon |
IDA
IDA: Inferred from direct assay
|
22473424 | RGD |
| located in axon initial segment |
IDA
IDA: Inferred from direct assay
|
12036953 | RGD |
| located in node of Ranvier |
IDA
IDA: Inferred from direct assay
|
16652168 | RGD |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
24297919 | RGD |
| part of voltage-gated sodium channel complex |
IDA
IDA: Inferred from direct assay
|
2442385 | RGD |
Scn2a Protein Structure
Ion_trans: pfam00520 (127 - 434)
Na_trans_cytopl: pfam11933 (557 - 708)
Ion_trans: pfam00520 (757 - 970)
Na_trans_assoc: pfam06512 (996 - 1202)
Ion_trans: pfam00520 (1206 - 1481)
Na_channel_gate: cd13433 (1473 - 1525)
Ion_trans: pfam00520 (1530 - 1785)
- 0
- 400
- 800
- 1200
- 1600
- 2005 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium channel protein type 2 subunit alpha |
|
|