Gene
scn12aa
- ID
- ZDB-GENE-060908-2
- Name
- sodium channel, voltage gated, type XII, alpha a
- Symbol
- scn12aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated sodium channel activity. Acts upstream of or within heart looping and regulation of heart contraction. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated sodium channel complex. Predicted to be active in axon. Is expressed in nervous system and pericardial region. Human ortholog(s) of this gene implicated in familial episodic pain syndrome 2. Orthologous to human SCN10A (sodium voltage-gated channel alpha subunit 10).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Chopra et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR000048 | IQ motif, EF-hand binding site |
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR010526 | Sodium ion transport-associated domain |
| Domain | IPR024583 | Voltage-gated Na+ ion channel, cytoplasmic domain |
| Domain | IPR044564 | Voltage-gated sodium channel alpha subunit, inactivation gate |
| Family | IPR001696 | Voltage gated sodium channel, alpha subunit |
| Family | IPR043203 | Voltage-gated cation channel calcium and sodium |
| Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
Domain Details Per Protein
| Protein | Length | Ion transport domain | IQ motif, EF-hand binding site | Sodium ion transport-associated domain | Voltage-dependent channel domain superfamily | Voltage-gated cation channel calcium and sodium | Voltage-gated Na+ ion channel, cytoplasmic domain | Voltage gated sodium channel, alpha subunit | Voltage-gated sodium channel alpha subunit, inactivation gate |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q20JQ5
|
1932 | ||||||||
|
UniProtKB:A0A8M3B7Z1
|
1940 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
scn12aa-201
(1)
|
Ensembl | 5,799 nt | ||
| mRNA |
scn12aa-202
(1)
|
Ensembl | 267 nt |
Interactions and Pathways
No data available
Plasmids
No data available