O60939 (SCN2B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sodium channel subunit beta-2

Gene names

Name:	SCN2B
ORF Names:	UNQ326/PRO386

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	215 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier By similarity.
Subunit structure	The sodium channel consists of a pore-forming alpha subunit, beta-1 and beta-2 subunits. Beta-1 is non-covalently associated with alpha, while beta-2 is covalently linked by disulfide bonds. Interaction with SCN10A and TNR By similarity. Ref.7
Subcellular location	Membrane; Single-pass type I membrane protein.
Tissue specificity	Brain specific.
Sequence similarities	Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family. [View classification] Contains 1 Ig-like C2-type (immunoglobulin-like) domain.

Ontologies

Keywords
Biological process	Ion transport Sodium transport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Immunoglobulin domain Signal Transmembrane Transmembrane helix
Ligand	Sodium
Molecular function	Ion channel Sodium channel Voltage-gated channel
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cardiac muscle contraction Inferred from mutant phenotype PubMed 19808477. Source: BHF-UCL nervous system development Inferred from electronic annotation. Source: Compara regulation of atrial cardiac muscle cell membrane depolarization Inferred from mutant phenotype PubMed 19808477. Source: BHF-UCL regulation of cardiac muscle cell action potential involved in contraction Inferred from mutant phenotype PubMed 19808477. Source: BHF-UCL regulation of heart rate by cardiac conduction Inferred from mutant phenotype PubMed 19808477. Source: BHF-UCL regulation of sodium ion transmembrane transporter activity Inferred from direct assay PubMed 19808477. Source: BHF-UCL response to pyrethroid Inferred from electronic annotation. Source: Compara synaptic transmission Traceable author statement Ref.1. Source: ProtInc
Cellular_component	voltage-gated sodium channel complex Traceable author statement Ref.1. Source: UniProtKB
Molecular_function	sodium channel regulator activity Inferred from direct assay PubMed 19808477. Source: BHF-UCL voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential Inferred from mutant phenotype PubMed 19808477. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 29	29	By similarity
	Chain	30 – 215	186	Sodium channel subunit beta-2		PRO_0000014931
Regions
	Topological domain	30 – 159	130	Extracellular Potential
	Transmembrane	160 – 180	21	Helical; Potential
	Topological domain	181 – 215	35	Cytoplasmic Potential
	Domain	32 – 154	123	Ig-like C2-type
Amino acid modifications
	Glycosylation	42	1	N-linked (GlcNAc...) Potential
	Glycosylation	66	1	N-linked (GlcNAc...) Potential
	Glycosylation	74	1	N-linked (GlcNAc...) Potential
	Disulfide bond	50 ↔ 127		Ref.7
	Disulfide bond	55		Interchain; with alpha subunit Ref.7
Natural variations
	Natural variant	28	1	R → W. Corresponds to variant rs17121819 [ dbSNP | Ensembl ].		VAR_029131
	Natural variant	47	1	R → H. Corresponds to variant rs17121818 [ dbSNP | Ensembl ].		VAR_029132
Experimental info
	Sequence conflict	2	1	H → Q in AAC26013. Ref.1
	Sequence conflict	8	1	P → L in AAC26013. Ref.1
	Sequence conflict	15	1	T → N in AAC26013. Ref.1
	Sequence conflict	48	1	L → Q in AAC26013. Ref.1
	Sequence conflict	68	1	T → S in AAC26013. Ref.1
	Sequence conflict	156	1	S → F in AAD47196. Ref.3
	Sequence conflict	178 – 179	2	MV → TA in AAC26013. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O60939 [UniParc]. Last modified August 1, 1998. Version 1. Checksum: 94A30A60A32683F3	FASTA	215	24,326
	10 20 30 40 50 60 MHRDAWLPRP AFSLTGLSLF FSLVPPGRSM EVTVPATLNV LNGSDARLPC TFNSCYTVNH 70 80 90 100 110 120 KQFSLNWTYQ ECNNCSEEMF LQFRMKIINL KLERFQDRVE FSGNPSKYDV SVMLRNVQPE 130 140 150 160 170 180 DEGIYNCYIM NPPDRHRGHG KIHLQVLMEE PPERDSTVAV IVGASVGGFL AVVILVLMVV 190 200 210 KCVRRKKEQK LSTDDLKTEE EGKTDGEGNP DDGAK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure and chromosomal localization of the beta2 subunit of the human brain sodium channel." Eubanks J., Srinivasan J., Dinulos M.B., Disteche C.M., Catterall W.A. NeuroReport 8:2775-2779(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[2]	"Exclusion of the SCN2B gene as candidate for CMT4B." Bolino A., Seri M., Caroli F., Eubanks J., Srinivasan J., Mandich P., Schenone A., Quattrone A., Romeo G., Catterall W.A., Devoto M. Eur. J. Hum. Genet. 6:629-634(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Brain.
[3]	"Whether 'slip-mode conductance' occurs." Cruz J.S., Santana L.F., Frederick C.A., Isom L.L., Malhotra J.D., Mattei L.N., Kass R.S., Xia J., An R.-H., Lederer W.J. Science 284:711-711(1999) Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Heart.
[4]	"Primary structure and functional expression of a beta 2 subunit of human infant brain sodium channels." Isom L.L., Mattei L.N., Ragsdale D.S. Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[7]	"Identification of the cysteine residue responsible for disulfide linkage of Na+ channel alpha and beta2 subunits." Chen C., Calhoun J.D., Zhang Y., Lopez-Santiago L., Zhou N., Davis T.H., Salzer J.L., Isom L.L. J. Biol. Chem. 287:39061-39069(2012) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, DISULFIDE BONDS.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF007783 mRNA. Translation: AAC26013.1. AF049498 mRNA. Translation: AAC05274.1. AF049497, AF049496 Genomic DNA. Translation: AAC05208.1. AF107028 mRNA. Translation: AAD47196.1. U87555 mRNA. Translation: AAF21472.1. AY358945 mRNA. Translation: AAQ89304.1. BC036793 mRNA. Translation: AAH36793.1.
IPI	IPI00000087.
RefSeq	NP_004579.1. NM_004588.4.
UniGene	Hs.129783.
3D structure databases
ProteinModelPortal	O60939.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000278947.
Protein family/group databases
TCDB	8.A.17.2.1. Na+ channel auxiliary subunit beta1-beta4 (SCA-beta) family.
PTM databases
PhosphoSite	O60939.
Proteomic databases
PaxDb	O60939.
PeptideAtlas	O60939.
PRIDE	O60939.
Protocols and materials databases
DNASU	6327.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000278947; ENSP00000278947; ENSG00000149575.
GeneID	6327.
KEGG	hsa:6327.
UCSC	uc001psf.2. human.
Organism-specific databases
CTD	6327.
GeneCards	GC11M118033.
HGNC	HGNC:10589. SCN2B.
HPA	HPA012585.
MIM	601327. gene.
neXtProt	NX_O60939.
PharmGKB	PA303.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG26453.
HOGENOM	HOG000118120.
HOVERGEN	HBG003443.
InParanoid	O60939.
KO	K04846.
OMA	CSNCSEE.
OrthoDB	EOG402WTM.
PhylomeDB	O60939.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
ArrayExpress	O60939.
Bgee	O60939.
CleanEx	HS_SCN2B.
Genevestigator	O60939.
GermOnline	ENSG00000149575. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.10. 1 hit.
InterPro	IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR003599. Ig_sub. IPR013106. Ig_V-set. IPR000920. Myelin_P0. [Graphical view]
Pfam	PF07686. V-set. 1 hit. [Graphical view]
PRINTS	PR00213. MYELINP0.
SMART	SM00409. IG. 1 hit. [Graphical view]
PROSITE	PS50835. IG_LIKE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	O60939.
ChEMBL	CHEMBL5446.
GenomeRNAi	6327.
NextBio	24558.
PMAP-CutDB	O60939.
SOURCE	Search...

Entry information

Entry name

SCN2B_HUMAN

Accession

Primary (citable) accession number: O60939
Secondary accession number(s): O75302, Q9UNN3

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	August 1, 1998
Last modified:	May 1, 2013
This is version 120 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.