SCN2A

GENERAL INFORMATION

? »

Gene name

SCN2A

Gene description

Sodium channel, voltage-gated, type II, alpha subunit

Protein class

Disease related genes
FDA approved drug targets
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localization

Membrane

Number of transcripts

4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Tissue enhanced (cerebellum)

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression in CNS.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Supportive based on 1 antibody.
CAB022567
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Stomach

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum)

Organ

Expression



GENE INFORMATION

? »

Gene name

SCN2A (HGNC Symbol)

Synonyms

HBSCI, HBSCII, Nav1.2, SCN2A1, SCN2A2

Description

Sodium channel, voltage-gated, type II, alpha subunit (HGNC Symbol)

Entrez gene summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They 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. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

Chromosome

2

Cytoband

q24.3

Chromosome location (bp)

165239402 - 165392308

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000136531 (version 78.38)

Entrez gene

6326

UniProt

Q99250 (UniProt - Evidence at protein level)

neXtProt

NX_Q99250

Antibodypedia

SCN2A antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000283256
 
ENST00000375427
 
ENST00000375437
 
ENST00000424833
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SCN2A-001 ENSP00000283256
ENST00000283256
Q99250
Show all »
Show » Show » 2005 228 No >9
SCN2A-002 ENSP00000364576
ENST00000375427
Q99250
Show all »
Show » Show » 2005 228 No >9
SCN2A-003 ENSP00000406454
ENST00000424833
A8K0U1
Show all »
Show » Show » 503 56.7 No 6
SCN2A-201 ENSP00000364586
ENST00000375437
Q99250
Show all »
Show » Show » 2005 228 No >9