Aliases for SCN2B Gene
Aliases for SCN2B Gene
- Sodium Voltage-Gated Channel Beta Subunit 2 2 3 5
- Sodium Channel, Voltage-Gated, Type II, Beta Polypeptide 2 3
- Sodium Channel, Voltage Gated, Type II Beta Subunit 2 3
- Neuronal Voltage-Gated Sodium Channel Beta 2 Subunit 3
- Sodium Channel, Voltage-Gated, Type II, Beta Subunit 2
- Sodium Channel, Voltage-Gated, Type II, Beta 2
- Sodium Channel Subunit Beta-2 3
- ATFB14 3
External Ids for SCN2B Gene
- HGNC: 10589
- Entrez Gene: 6327
- Ensembl: ENSG00000149575
- OMIM: 601327
- UniProtKB: O60939
Previous GeneCards Identifiers for SCN2B Gene
- GC11M120392
- GC11M119545
- GC11M118070
- GC11M117573
- GC11M117542
- GC11M118033
- GC11M113967
Summaries for SCN2B Gene
-
The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]
GeneCards Summary for SCN2B Gene
SCN2B (Sodium Voltage-Gated Channel Beta Subunit 2) is a Protein Coding gene. Diseases associated with SCN2B include Atrial Fibrillation, Familial, 14 and Familial Atrial Fibrillation. Among its related pathways are Developmental Biology and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include sodium channel regulator activity and voltage-gated sodium channel activity involved in cardiac muscle cell action potential. An important paralog of this gene is SCN4B.
UniProtKB/Swiss-Prot for SCN2B Gene
-
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).
-
Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear.
Additional gene information for SCN2B Gene
- Monarch Initiative
- Search for SCN2B at DataMed
- Search for SCN2B at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN2B Gene
Genomics for SCN2B Gene
GeneHancer (GH) Regulatory Elements for SCN2B Gene
Promoters and enhancers for SCN2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SCN2B on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SCN2B gene promoter:
-
- HEN1
- c-Myb
- S8
- Pax-2a
- Pax-2
- AML1a
Regulatory Element Products
Genomic Locations for SCN2B Gene
Genomic Locations for SCN2B Gene
- chr11:118,161,951-118,176,673
- (GRCh38/hg38)
- Size:
- 14,723 bases
- Orientation:
- Minus strand
- chr11:118,032,666-118,047,388
- (GRCh37/hg19)
- Size:
- 14,723 bases
- Orientation:
- Minus strand
Genomic View for SCN2B Gene
Genes around SCN2B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC
- 11q23.3 by Ensembl
SCN2B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SCN2B Gene
Proteins for SCN2B Gene
-
Protein details for SCN2B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O60939-SCN2B_HUMAN
- Recommended name:
- Sodium channel subunit beta-2
- Protein Accession:
- O60939
- O75302
- Q9UNN3
Protein attributes for SCN2B Gene
- Size:
- 215 amino acids
- Molecular mass:
- 24326 Da
- Quaternary structure:
-
- The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2, beta-3 and/or beta-4 subunits. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 and beta-4 are covalently linked by disulfide bonds (By similarity).
Protein Expression for SCN2B Gene
Post-translational modifications for SCN2B Gene
Other Protein References for SCN2B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SCN2B
- Novus Biologicals Antibodies for SCN2B
- Invitrogen Antibodies for SCN2B
- GeneTex Scn2b Antibody for SCN2B
- Sino Biological Antibodies for SCN2B
Protein Products
-
OriGene Purified Proteins for SCN2B
- Search Origene for MassSpec and Protein Over-expression Lysates for SCN2B
- Origene Custom Protein Services for SCN2B
- Sino Biological Recombinant Proteins for SCN2B
- Sino Biological Cell Lysates for SCN2B
- antibodies-online: Search results for 10 available SCN2B Proteins ranked by validation data
- Compare Top SCN2B Proteins
-
Quality Products:
- Search GeneTex for Proteins for SCN2B
Assay Products
- antibodies-online: Search results for 1 available SCN2B Elisa Kits ranked by validation data
- Compare Top SCN2B Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SCN2B Gene
Domains & Families for SCN2B Gene
Gene Families for SCN2B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for SCN2B Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SCN2B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O60939UniProtKB/Swiss-Prot:
SCN2B_HUMAN :- Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family.
- Family:
-
- Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family.
Function for SCN2B Gene
Molecular function for SCN2B Gene
- UniProtKB/Swiss-Prot 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).
- GENATLAS Biochemistry:
- sodium voltage-gated channel,type II,auxilliary subunit beta homolog to rat contactin,involved in the initiation and conduction of electrical impulses in nerves,highly similar to myelin protein zero may be involved in demyelinating diseases,CMT2B excluded
Phenotypes From GWAS Catalog for SCN2B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005248 | voltage-gated sodium channel activity | IEA | -- |
| GO:0005272 | sodium channel activity | IEA | -- |
| GO:0017080 | sodium channel regulator activity | IDA | 19808477 |
| GO:0086006 | voltage-gated sodium channel activity involved in cardiac muscle cell action potential | IMP | 19808477 |
Phenotypes for SCN2B Gene
- MGI mutant phenotypes for SCN2B:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SCN2B:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SCN2B
-
CRISPR Products
-
OriGene CRISPR knockouts for SCN2B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SCN2B
- genomics-online: gRNA clones - Search results for 117 available SCN2B gene related products
- Overview of 117 available SCN2B gene related products
- Applied Biological Materials CRISPR for SCN2B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SCN2B
- GenScript: Design CRISPR guide RNA sequences for SCN2B
miRNA for SCN2B Gene
- miRTarBase miRNAs that target SCN2B
-
- hsa-mir-4746-3p (MIRT500042)
- hsa-mir-4708-3p (MIRT500043)
- hsa-mir-6511a-5p (MIRT570094)
- hsa-mir-3151-5p (MIRT570095)
- hsa-mir-185-3p (MIRT570096)
- hsa-mir-4283 (MIRT570097)
- hsa-mir-4489 (MIRT570098)
- hsa-mir-4795-5p (MIRT570099)
- hsa-mir-1296-3p (MIRT570100)
- hsa-mir-129-5p (MIRT641401)
- hsa-mir-8055 (MIRT641402)
- hsa-mir-4309 (MIRT641403)
- hsa-mir-3198 (MIRT641404)
- hsa-mir-6873-3p (MIRT641405)
- hsa-mir-6895-3p (MIRT641406)
- hsa-mir-4294 (MIRT641407)
- hsa-mir-1289 (MIRT641408)
- hsa-mir-8082 (MIRT641409)
- hsa-mir-4534 (MIRT641410)
- hsa-mir-1273f (MIRT641411)
- hsa-mir-4708-5p (MIRT641412)
- hsa-mir-6088 (MIRT641413)
- hsa-mir-4770 (MIRT641414)
- hsa-mir-143-3p (MIRT641415)
- hsa-mir-6817-3p (MIRT641416)
- hsa-mir-7110-3p (MIRT641417)
- hsa-mir-6514-5p (MIRT641418)
- hsa-mir-384 (MIRT654012)
- hsa-mir-3685 (MIRT654013)
- hsa-mir-7975 (MIRT654014)
- hsa-mir-5571-3p (MIRT654015)
- hsa-mir-5699-3p (MIRT654016)
- hsa-mir-3124-3p (MIRT654017)
- hsa-mir-4421 (MIRT654018)
- hsa-mir-6748-3p (MIRT654019)
- hsa-mir-4640-3p (MIRT654020)
- hsa-mir-5585-3p (MIRT699813)
- hsa-mir-4279 (MIRT699814)
- hsa-mir-6778-3p (MIRT699815)
- hsa-mir-1976 (MIRT699816)
- hsa-mir-3653-5p (MIRT699817)
- hsa-mir-150-5p (MIRT699818)
- hsa-mir-6747-3p (MIRT699819)
- hsa-mir-6727-3p (MIRT699820)
- hsa-mir-4722-3p (MIRT699821)
- hsa-mir-186-3p (MIRT699822)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SCN2B
- Browse OriGene Inhibitory RNA Products For SCN2B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCN2B
- genomics-online: shRNA clones - Search results for 117 available SCN2B gene related products
- Overview of 117 available SCN2B gene related products
Clone Products
- Sino Biological Human cDNA Clone for SCN2B
- VectorBuilder custom plasmid, inducible vectors for SCN2B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SCN2B
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SCN2B
- Applied Biological Materials Clones for SCN2B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SCN2B
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCN2B Gene
Localization for SCN2B Gene
Subcellular locations from UniProtKB/Swiss-Prot for SCN2B Gene
- Membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 3 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001518 | voltage-gated sodium channel complex | TAS | 9295116 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCN2B Gene
Pathways & Interactions for SCN2B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
| 2 | Neuropathic Pain-Signaling in Dorsal Horn Neurons | ||
| 3 | Developmental Biology |
.51
|
|
| 4 | Cardiac conduction | ||
| 5 | Antiarrhythmic Pathway, Pharmacodynamics | ||
Pathways by source for SCN2B Gene
7 Reactome pathways for SCN2B Gene
1 PharmGKB pathway for SCN2B Gene
7 Qiagen pathways for SCN2B Gene
1 Cell Signaling Technology pathway for SCN2B Gene
Interacting Proteins for SCN2B Gene
GPS-Prot Interaction Network for SCN2B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006814 | sodium ion transport | IEA | -- |
| GO:0007268 | chemical synaptic transmission | TAS | 9295116 |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for SCN2B Gene
Drugs & Compounds for SCN2B Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zonisamide | Approved, Investigational | Pharma | blocker, Target, inhibitor | Antiepileptic with anticonvulsant and mechanistic effect | 69 | |
| Brivaracetam | Approved, Investigational | Pharma | Target, inhibitor | ligand for SV2A, selective and high-affinity | 0 | |
| Dichlorobenzyl alcohol | Approved | Pharma | Target, antagonist | 0 | ||
| Valproic Acid | Approved, Investigational | Pharma | Target, inhibitor | HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors | 333 | |
| Carbamazepine | Approved, Investigational | Pharma | Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant | 134 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| sodium |
|
7440-23-5 |
|
|||
| Amiloride hydrochloride |
|
2016-88-8 |
|
|
(3) Tocris Compounds for SCN2B Gene
| Compound | Action | Cas Number |
|---|---|---|
| Amiloride hydrochloride | Na+ channel blocker; also I2 imidazoline ligand | 2016-88-8 |
| Carbamazepine | Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant | 298-46-4 |
| Vinpocetine | Na+ channel blocker | 42971-09-5 |
Transcripts for SCN2B Gene
mRNA/cDNA for SCN2B Gene
- (1) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (67) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000278947 5826 bps (uc001psf.3)
Unigene Clusters for SCN2B Gene
- Sodium channel, voltage-gated, type II, beta subunit:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SCN2B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SCN2B
- genomics-online: gRNA clones - Search results for 117 available SCN2B gene related products
- Overview of 117 available SCN2B gene related products
- Applied Biological Materials CRISPR for SCN2B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SCN2B
- GenScript: Design CRISPR guide RNA sequences for SCN2B
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SCN2B
- Browse OriGene Inhibitory RNA Products For SCN2B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCN2B
- genomics-online: shRNA clones - Search results for 117 available SCN2B gene related products
- Overview of 117 available SCN2B gene related products
Clone Products
- Sino Biological Human cDNA Clone for SCN2B
- VectorBuilder custom plasmid, inducible vectors for SCN2B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SCN2B
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SCN2B
- Applied Biological Materials Clones for SCN2B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SCN2B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for SCN2B Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.6), Brain - Cortex (x5.6), Brain - Cerebellar Hemisphere (x5.5), Brain - Cerebellum (x5.3), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Nucleus accumbens (basal ganglia) (x4.7).
This gene is overexpressed in Frontal cortex (60.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SCN2B Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SCN2B Gene:
SCN2BSOURCE GeneReport for Unigene cluster for SCN2B Gene:
Hs.129783mRNA Expression by UniProt/SwissProt for SCN2B Gene:
O60939-SCN2B_HUMAN
Tissue specificity:
Brain specific.
Evidence on tissue expression from TISSUES for SCN2B Gene
- Nervous system(4.7)
- Heart(4.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN2B Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- nervous
Regions:
Head and neck:
- brain
- ear
- head
Thorax:
- heart
- heart valve
General:
- blood
- blood vessel
- coagulation system
Primer Products
-
OriGene qPCR primer pairs and template standards for SCN2B
-
OriGene qPCR primer pairs for SCN2B
Gene Expression Assay Products
Orthologs for SCN2B Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SCN2B 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SCN2B 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SCN2B 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Scn2b 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Scn2b 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SCN2B 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SCN2B 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SCN2B 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | scn2b 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | scn2b 34 33 |
|
OneToOne |
- Species where no ortholog for SCN2B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for SCN2B Gene
- ENSEMBL:
- Gene Tree for SCN2B (if available)
- TreeFam:
- Gene Tree for SCN2B (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SCN2B: view image
Paralogs for SCN2B Gene
Variants for SCN2B Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1085307094 | uncertain-significance, Atrial fibrillation, familial, 14 | 118,167,088(-) | T/G | splice_acceptor_variant | |
| rs115353159 | uncertain-significance, Atrial fibrillation, familial, 14, not specified | 118,166,957(-) | G/A/C | coding_sequence_variant, missense_variant | |
| rs17121818 | uncertain-significance, Atrial fibrillation, familial, 14 | 118,168,682(-) | C/T | coding_sequence_variant, missense_variant | |
| rs17121819 | pathogenic, uncertain-significance, Atrial fibrillation, familial, 14, not specified, Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] | 118,168,740(-) | G/A | coding_sequence_variant, missense_variant | |
| rs200842493 | likely-benign, Atrial fibrillation, familial, 14 | 118,168,301(-) | G/A/T | intron_variant |
Residual Variation Intolerance Score:
42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.41;
8.92% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SCN2B Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN2B Gene
Disorders for SCN2B Gene
(8) MalaCards diseases for SCN2B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| atrial fibrillation, familial, 14 |
|
|
| familial atrial fibrillation |
|
|
| atrial fibrillation |
|
|
| brugada syndrome |
|
|
| right bundle branch block |
|
|
Search SCN2B in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SCN2B_HUMAN- Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:19808477}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=Genetic variations in SCN2B may be involved in Brugada syndrome (PubMed:23559163). This tachyarrhythmia is characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269 PubMed:23559163}.
Additional Disease Information for SCN2B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SCN2B Gene
Publications for SCN2B Gene
- Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. (PMID: 19808477) Watanabe H … Roden DM (Circulation. Arrhythmia and electrophysiology 2009) 3 4 44 58
- A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. (PMID: 23559163) Riuró H … Brugada R (Human mutation 2013) 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
Products for SCN2B Gene
- Browse R&D Systems for Antibodies
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- Custom Antibody ServicesOriGene Antibodies for SCN2B
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SCN2B
- Search Origene for MassSpec and Protein Over-expression Lysates for SCN2B
- Origene Custom Protein Services for SCN2B
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SCN2B
- Browse OriGene Inhibitory RNA Products For SCN2B
- OriGene qPCR primer pairs and template standards for SCN2B
- OriGene qPCR primer pairs for SCN2B
- OriGene CRISPR knockouts for SCN2B
- OriGene ORF clones in human for SCN2B
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SCN2B
- GenScript: Next-day shipping of latest version cDNA ORF clones for SCN2B in any vector
- GenScript Custom Purified and Recombinant Proteins Services for SCN2B
- GenScript Custom Assay Services for SCN2B
- GenScript Custom overexpressing Cell Line Services for SCN2B
- GenScript: Design CRISPR guide RNA sequences for SCN2B
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
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- Sino Biological Human cDNA Clone for SCN2B
- Sino Biological Recombinant Proteins for SCN2B
- Sino Biological Cell Lysates for SCN2B
- Sino Biological Antibodies for SCN2B
- Browse Sino Biological Assays
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SCN2B
- Novus Biologicals proteins and lysates for SCN2B
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Browse ELISA Kits
- VectorBuilder custom plasmid, inducible vectors for SCN2B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SCN2B
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 84 available SCN2B Antibodies ranked by validation data
- Compare Top SCN2B Antibodies
- antibodies-online: Search results for 1 available SCN2B Elisa Kits ranked by validation data
- Compare Top SCN2B Elisa Kits
- Quality Products:
- antibodies-online: Search results for 10 available SCN2B Proteins ranked by validation data
- Compare Top SCN2B Proteins
- Quality Products:
- GeneTex Scn2b Antibody for SCN2B
- Search GeneTex for Proteins for SCN2B
- Horizon Cell Lines for SCN2B
- genomics-online: cdna clones - Search results for 117 available SCN2B gene related products
- Overview of 117 available SCN2B gene related products
- orf clones - Search results for 117 available SCN2B gene related products
- Overview of 117 available SCN2B gene related products
- genomics-online: gRNA clones - Search results for 117 available SCN2B gene related products
- Overview of 117 available SCN2B gene related products
- genomics-online: primer clones - Search results for 117 available SCN2B gene related products
- Overview of 117 available SCN2B gene related products
- genomics-online: shRNA clones - Search results for 117 available SCN2B gene related products
- Overview of 117 available SCN2B gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SCN2B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SCN2B
- GeneCopoeia miRNA 3'UTR Target clone products for SCN2B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCN2B
Sources for SCN2B Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
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- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt