Fields »
ABOUT
HELP
BLOG
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

 6
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Tissue enhanced (glioma)
HPA (cell line):Cell line enhanced (SH-SY5Y, U-138 MG, U-266/84, U-87 MG)
HPA (normal tissue):Tissue enriched (cerebral cortex)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Granular cytoplasmic expression in CNS.

ANTIBODY IHC RELIABILITY

Data reliability
description

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

Reliability score

 Supported based on 1 antibody.
CAB022567
SHOW MORE

PROGNOSTIC SUMMARY
Gene product is not prognostic.
Show all

RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Tissue enhanced (glioma)

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
CAB022567

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 - 165392310

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000136531 (version 83.38)

Entrez gene

 6326

UniProt

 Q99250 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99250

Antibodypedia

 SCN2A antibodies

PROTEIN BROWSER
SCN2A-001
SCN2A-002
SCN2A-003
SCN2A-004
SCN2A-201
SCN2A-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SCN2A-001
ENSP00000283256
ENST00000283256
Q99250 [Direct mapping]
Sodium channel protein type 2 subunit alpha
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Sodium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0016020 [membrane]
GO:0019228 [neuronal action potential]
GO:0030424 [axon]
GO:0031226 [intrinsic component of plasma membrane]
GO:0033268 [node of Ranvier]
GO:0034706 [sodium channel complex]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0042552 [myelination]
GO:0055085 [transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 2005 aa
228 kDa 		No >9
SCN2A-002
ENSP00000486885
ENST00000631182
Q99250 [Direct mapping]
Sodium channel protein type 2 subunit alpha
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Sodium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0016020 [membrane]
GO:0019228 [neuronal action potential]
GO:0030424 [axon]
GO:0031226 [intrinsic component of plasma membrane]
GO:0033268 [node of Ranvier]
GO:0034706 [sodium channel complex]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0042552 [myelination]
GO:0055085 [transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 2005 aa
228 kDa 		No >9
SCN2A-003
ENSP00000406454
ENST00000424833
F6U291 [Direct mapping]
Sodium channel protein type 2 subunit alpha
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Show all
GO:0005216 [ion channel activity]
GO:0005244 [voltage-gated ion channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019228 [neuronal action potential]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 505 aa
57.1 kDa 		No 6
SCN2A-004
ENSP00000487466
ENST00000486878
A0A0D9SGG2 [Direct mapping]
Sodium channel protein type 2 subunit alpha
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Show all
GO:0005216 [ion channel activity]
GO:0005244 [voltage-gated ion channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019228 [neuronal action potential]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 178 aa
20.5 kDa 		No 3
SCN2A-201
ENSP00000364576
ENST00000375427
Q99250 [Direct mapping]
Sodium channel protein type 2 subunit alpha
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Sodium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0016020 [membrane]
GO:0019228 [neuronal action potential]
GO:0030424 [axon]
GO:0031226 [intrinsic component of plasma membrane]
GO:0033268 [node of Ranvier]
GO:0034706 [sodium channel complex]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0042552 [myelination]
GO:0055085 [transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 2005 aa
228 kDa 		No >9
SCN2A-202
ENSP00000364586
ENST00000375437
Q99250 [Direct mapping]
Sodium channel protein type 2 subunit alpha
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Sodium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0007399 [nervous system development]
GO:0008627 [intrinsic apoptotic signaling pathway in response to osmotic stress]
GO:0014704 [intercalated disc]
GO:0016020 [membrane]
GO:0019228 [neuronal action potential]
GO:0030315 [T-tubule]
GO:0030424 [axon]
GO:0031226 [intrinsic component of plasma membrane]
GO:0033268 [node of Ranvier]
GO:0033270 [paranode region of axon]
GO:0034706 [sodium channel complex]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0042552 [myelination]
GO:0051402 [neuron apoptotic process]
GO:0055085 [transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 2005 aa
228 kDa 		No >9

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.