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Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit 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 beta subunit gene family, and influences the inactivation kinetics of the sodium c... See more...
Aliases for SCN3B Gene
Aliases for SCN3B Gene
External Ids for SCN3B Gene
- HGNC: 20665
- Entrez Gene: 55800
- Ensembl: ENSG00000166257
- OMIM: 608214
- UniProtKB: Q9NY72
Previous GeneCards Identifiers for SCN3B Gene
- GC11M125013
- GC11M123533
- GC11M123037
- GC11M123039
- GC11M123005
- GC11M119441
- GC11M123500
Summaries for SCN3B Gene
-
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit 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 beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for SCN3B Gene
SCN3B (Sodium Voltage-Gated Channel Beta Subunit 3) is a Protein Coding gene. Diseases associated with SCN3B include Brugada Syndrome 7 and Brugada Syndrome. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Gene Ontology (GO) annotations related to this gene include ion channel binding and voltage-gated sodium channel activity. An important paralog of this gene is SCN1B.
UniProtKB/Swiss-Prot Summary for SCN3B Gene
-
Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons (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 SCN3B Gene
- HGNC(20665)
- Entrez Gene(55800)
- Ensembl(ENSG00000166257)
- OMIM(608214)
- UniProtKB(Q9NY72)
- Open Targets Platform(ENSG00000166257)
- Monarch Initiative
- Search for SCN3B at DataMed
- Search for SCN3B at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCN3B Gene
Genomics for SCN3B Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SCN3B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SCN3B on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCN3B
- Top Transcription factor binding sites by QIAGEN in the SCN3B gene promoter:
-
- HTF
- Lhx3a
- LHX3b
- NRSF form 1
- NRSF form 2
- p53
- RP58
Genomic Locations for SCN3B Gene
Genomic Locations for SCN3B Gene
- chr11:123,629,187-123,655,244
- (GRCh38/hg38)
- Size:
- 26,058 bases
- Orientation:
- Minus strand
- chr11:123,499,895-123,525,952
- (GRCh37/hg19)
- Size:
- 26,058 bases
- Orientation:
- Minus strand
Genomic View for SCN3B Gene
Genes around SCN3B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q24.1 by HGNC
- 11q24.1 by Entrez Gene
- 11q24.1 by Ensembl
SCN3B 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 SCN3B Gene
Proteins for SCN3B Gene
-
Protein details for SCN3B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NY72-SCN3B_HUMAN
- Recommended name:
- Sodium channel subunit beta-3
- Protein Accession:
- Q9NY72
- A5H1I5
- Q17RL3
- Q9ULR2
Protein attributes for SCN3B Gene
- Size:
- 215 amino acids
- Molecular mass:
- 24702 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).
- SequenceCaution:
-
- Sequence=BAA86472.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for SCN3B Gene
Post-translational modifications for SCN3B Gene
Other Protein References for SCN3B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences SCN3B Antibody
- Novus Biologicals Antibodies for SCN3B
-
Abcam antibodies for SCN3B
- Invitrogen Antibodies for SCN3B (AFLGC-Scn3b)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SCN3B
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for SCN3B
- Origene Custom Protein Services for SCN3B
- Sino Biological Recombinant Proteins for SCN3B
- Sino Biological Cell Lysates for SCN3B
- ProSpec Recombinant Proteins for SCN3B
-
Abcam proteins for SCN3B
No data available for DME Specific Peptides for SCN3B Gene
Domains & Families for SCN3B Gene
Gene Families for SCN3B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for SCN3B Gene
- InterPro:
- Blocks:
-
- Immunoglobulin V-set
- Immunoglobulin subtype
- ProtoNet:
Suggested Antigen Peptide Sequences for SCN3B Gene
- GenScript: Design optimal peptide antigens:
-
- Sodium channel subunit beta-3 (SCN3B_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NY72UniProtKB/Swiss-Prot:
SCN3B_HUMAN :- Belongs to the sodium channel auxiliary subunit SCN3B (TC 8.A.17) family.
- Family:
-
- Belongs to the sodium channel auxiliary subunit SCN3B (TC 8.A.17) family.
Function for SCN3B Gene
Molecular function for SCN3B Gene
- UniProtKB/Swiss-Prot Function:
- Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons (By similarity).
Phenotypes From GWAS Catalog for SCN3B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005272 | sodium channel activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 28514442 |
| GO:0017080 | sodium channel regulator activity | IMP | 20042427 |
| GO:0019871 | sodium channel inhibitor activity | IBA | 21873635 |
Phenotypes for SCN3B Gene
- MGI mutant phenotypes for SCN3B:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SCN3B:
Animal Models for SCN3B Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for SCN3B
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SCN3B - Select products 50% OFF >
- * SCN3B CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SCN3B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SCN3B
-
Santa Cruz Biotechnology (SCBT) CRISPR for SCN3B
miRNA for SCN3B Gene
- miRTarBase miRNAs that target SCN3B
-
- mmu-miR-301b-3p (MIRT007919)
- mmu-miR-425-5p (MIRT008649)
- mmu-miR-17-5p (MIRT010040)
- mmu-miR-324-3p (MIRT010894)
- mmu-miR-9-5p (MIRT015332)
- hsa-miR-335-5p (MIRT018656)
- hsa-miR-6516-5p (MIRT680902)
- hsa-miR-455-3p (MIRT680903)
- hsa-miR-6499-3p (MIRT680904)
- hsa-miR-2467-3p (MIRT680905)
- hsa-miR-6086 (MIRT680906)
- hsa-miR-377-5p (MIRT680907)
- hsa-miR-1827 (MIRT680908)
- hsa-miR-4537 (MIRT680909)
- hsa-miR-4257 (MIRT680910)
- hsa-miR-6511a-5p (MIRT680911)
- hsa-miR-1910-3p (MIRT680912)
- hsa-miR-1228-3p (MIRT761438)
- hsa-miR-1273e (MIRT761863)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SCN3B
- Browse OriGene Inhibitory RNA Products For SCN3B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCN3B
Clone Products
- Applied Biological Materials (abm): Clones for SCN3B - Select products 50% OFF >
- * SCN3B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG202358
- MG202373
- MR202358
- MR202358L3
- MR202358L4
- MR202373
- MR202373L3
- MR202373L4
- MR228287
- MR228553
- RC223114
- RC223114L3
- RC223114L4
- RC224237
- RC224237L1
- RC224237L2
- RC224237L3
- RC224237L4
- RG223114
- RG224237
- RR206247
- RR206247L3
- RR206247L4
- MR202358L3V
- MR202358L4V
- MR202373L3V
- MR202373L4V
- RC223114L3V
- RC223114L4V
- RC224237L1V
- RC224237L2V
- RC224237L3V
- RC224237L4V
- RR206247L3V
- RR206247L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SCN3B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SCN3B
Cell Line Products
-
Horizon Cell Lines for SCN3B
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCN3B Gene
Localization for SCN3B Gene
Subcellular locations from UniProtKB/Swiss-Prot for SCN3B Gene
- Membrane. Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| nucleus | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 0 |
- Cytosol (2)
- Intermediate filaments (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001518 | voltage-gated sodium channel complex | TAS | 21895525 |
| GO:0005886 | plasma membrane | IDA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | NAS | 10688874 |
| GO:0030018 | Z disc | ISS | -- |
Pathways & Interactions for SCN3B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
| 2 | Neuropathic Pain-Signaling in Dorsal Horn Neurons |
Aldosterone Signaling in Epithelial Cells
.47
Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
|
Cholera Infection
.40
|
| 3 | Developmental Biology |
.51
|
|
| 4 | Cardiac conduction | ||
| 5 | Antiarrhythmic Pathway, Pharmacodynamics | ||
Pathways by source for SCN3B Gene
2 BioSystems pathways for SCN3B Gene
7 Reactome pathways for SCN3B Gene
1 PharmGKB pathway for SCN3B Gene
7 Qiagen pathways for SCN3B Gene
- Activation of cAMP-Dependent PKA
- Aldosterone Signaling in Epithelial Cells
- cAMP Pathway
- Cholera Infection
- GHRH Signaling
Interacting Proteins for SCN3B Gene
Selected Interacting proteins:
Q9NY72-SCN3B_HUMAN
ENSP00000376523
for SCN3B Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SCN3B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006814 | sodium ion transport | NAS | 10688874 |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0010460 | positive regulation of heart rate | ISS | -- |
| GO:0010765 | positive regulation of sodium ion transport | IMP | 21051419 |
No data available for SIGNOR curated interactions for SCN3B Gene
Drugs & Compounds for SCN3B Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zonisamide | Approved, Investigational | Pharma | Target, inhibitor, blocker | Antiepileptic with anticonvulsant and mechanistic effect | 74 | |
| Brivaracetam | Approved, Investigational | Pharma | Target, inhibitor | 39 | ||
| Cocaine | Approved, Illicit | Pharma | Target, inhibitor | 599 | ||
| Dichlorobenzyl alcohol | Approved | Pharma | Target, antagonist | 0 | ||
| Oxcarbazepine | Approved | Pharma | Target, inhibitor | BTX inhibitor | 64 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| sodium |
|
7440-23-5 |
|
|||
| Amiloride hydrochloride |
|
2016-88-8 |
|
|
(3) Tocris Compounds for SCN3B 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 SCN3B Gene
mRNA/cDNA for SCN3B Gene
- 2 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000299333 5665 nts (view in UCSC)
- ENST00000392770 6061 nts (view in UCSC)
- ENST00000527125 3289 nts (view in UCSC)
- ENST00000530277 3984 nts (view in UCSC)
- ENST00000655686 1504 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SCN3B - Select products 50% OFF >
- * SCN3B CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SCN3B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SCN3B
-
Santa Cruz Biotechnology (SCBT) CRISPR for SCN3B
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SCN3B
- Browse OriGene Inhibitory RNA Products For SCN3B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCN3B
Clone Products
- Applied Biological Materials (abm): Clones for SCN3B - Select products 50% OFF >
- * SCN3B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG202358
- MG202373
- MR202358
- MR202358L3
- MR202358L4
- MR202373
- MR202373L3
- MR202373L4
- MR228287
- MR228553
- RC223114
- RC223114L3
- RC223114L4
- RC224237
- RC224237L1
- RC224237L2
- RC224237L3
- RC224237L4
- RG223114
- RG224237
- RR206247
- RR206247L3
- RR206247L4
- MR202358L3V
- MR202358L4V
- MR202373L3V
- MR202373L4V
- RC223114L3V
- RC223114L4V
- RC224237L1V
- RC224237L2V
- RC224237L3V
- RC224237L4V
- RR206247L3V
- RR206247L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SCN3B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SCN3B
Relevant External Links for SCN3B Gene
- GeneLoc Exon Structure for
- SCN3B
Expression for SCN3B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for SCN3B Gene
This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x7.5), Brain - Frontal Cortex (BA9) (x6.8), Brain - Cortex (x6.6), Brain - Hippocampus (x6.2), and Brain - Amygdala (x4.2).
This gene is overexpressed in Fetal Brain (56.3) and Frontal cortex (11.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SCN3B Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SCN3B
SOURCE GeneReport for Unigene cluster for SCN3B Gene:
Hs.4865mRNA Expression by UniProt/SwissProt for SCN3B Gene:
Q9NY72-SCN3B_HUMAN
Tissue specificity:
Expressed in the atrium.
Evidence on tissue expression from TISSUES for SCN3B Gene
- Nervous system(4.9)
- Muscle(2.4)
- Heart(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN3B 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
- red blood cell
Primer Products
-
OriGene qPCR primer pairs for SCN3B
-
OriGene qPCR primer pairs and template standards for SCN3B
Gene Expression Assay Products
Orthologs for SCN3B Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SCN3B 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SCN3B 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SCN3B 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SCN3B 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Scn3b 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Scn3b 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SCN3B 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SCN3B 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SCN3B 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | scn3b 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | scn3b 30 31 |
|
OneToOne |
- Species where no ortholog for SCN3B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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 SCN3B Gene
- ENSEMBL:
- Gene Tree for SCN3B (if available)
- TreeFam:
- Gene Tree for SCN3B (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SCN3B: view image
Paralogs for SCN3B Gene
Variants for SCN3B Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCN3B Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 642346 | Uncertain Significance: Brugada syndrome 7; not specified | 123,638,187(-) | C/T | MISSENSE_VARIANT | |
| 644208 | Uncertain Significance: Brugada syndrome 7 | 123,642,496(-) | C/T | MISSENSE_VARIANT | |
| 646266 | Uncertain Significance: Brugada syndrome 7 | 123,642,497(-) | G/A | MISSENSE_VARIANT | |
| 669619 | Likely Benign: not provided | 123,642,952(-) | T/C | INTRON_VARIANT | |
| 669980 | Likely Benign: not provided | 123,654,209(-) | G/C | FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv419e212 | CNV | loss | 25503493 |
| esv2759868 | CNV | loss | 17122850 |
| esv3627959 | CNV | loss | 21293372 |
| nsv556484 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.45;
9.87% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SCN3B Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN3B Gene
Disorders for SCN3B Gene
(22) MalaCards diseases for SCN3B Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brugada syndrome 7 |
|
|
| brugada syndrome |
|
|
| familial atrial fibrillation |
|
|
| atrial fibrillation |
|
|
| right bundle branch block |
|
|
Search SCN3B in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SCN3B_HUMAN- Brugada syndrome 7 (BRGDA7) [MIM:613120]: A tachyarrhythmia 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:20031595}. Note=The gene represented in this entry may be involved in disease pathogenesis.
- Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120]: 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:20558140, ECO:0000269 PubMed:21051419}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SCN3B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SCN3B Gene
Publications for SCN3B Gene
- Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population. (PMID: 20558140) Wang P … Wang QK (Biochemical and biophysical research communications 2010) 3 4 41
- beta 3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics. (PMID: 10688874) Morgan K … Jackson AP (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4
- Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. (PMID: 21051419) Olesen MS … Svendsen JH (Cardiovascular research 2011) 3 4
- Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. (PMID: 20042427) Valdivia CR … Makielski JC (Cardiovascular research 2010) 3 4
- Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. (PMID: 19808477) Watanabe H … Roden DM (Circulation. Arrhythmia and electrophysiology 2009) 3 41
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