Aliases for KCNE3 Gene
Aliases for KCNE3 Gene
- Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3 2 3 5
- Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 3 2 3
- Potassium Voltage-Gated Channel, Isk-Related Family, Member 3 2 3
- Minimum Potassium Ion Channel-Related Peptide 2 3 4
- Potassium Channel Subunit Beta MiRP2 3 4
- MinK-Related Peptide 2 3 4
- Cardiac Voltage-Gated Potassium Channel Accessory Subunit 3
External Ids for KCNE3 Gene
- HGNC: 6243
- Entrez Gene: 10008
- Ensembl: ENSG00000175538
- OMIM: 604433
- UniProtKB: Q9Y6H6
Previous GeneCards Identifiers for KCNE3 Gene
- GC11M076494
- GC11M075705
- GC11M074388
- GC11M073892
- GC11M073843
- GC11M074165
- GC11M070461
Summaries for KCNE3 Gene
-
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCNE3 Gene
KCNE3 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3) is a Protein Coding gene. Diseases associated with KCNE3 include Brugada Syndrome 6 and Brugada Syndrome. Among its related pathways are Cardiac conduction and Phase 0 - rapid depolarisation. Gene Ontology (GO) annotations related to this gene include voltage-gated potassium channel activity and potassium channel regulator activity.
UniProtKB/Swiss-Prot for KCNE3 Gene
-
Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:12954870). Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion that produces a current with nearly instantaneous activation with a linear current-voltage relationship.
-
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.
Additional gene information for KCNE3 Gene
- Monarch Initiative
- Search for KCNE3 at DataMed
- Search for KCNE3 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNE3 Gene
Genomics for KCNE3 Gene
GeneHancer (GH) Regulatory Elements for KCNE3 Gene
Promoters and enhancers for KCNE3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KCNE3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KCNE3 gene promoter:
-
- FOXL1
- HSF1short
- HSF1 (long)
- NF-kappaB
- NF-kappaB1
- RelA
- AML1a
- Arnt
- C/EBPalpha
- Brachyury
Regulatory Element Products
Genomic Locations for KCNE3 Gene
Genomic Locations for KCNE3 Gene
- chr11:74,454,841-74,467,729
- (GRCh38/hg38)
- Size:
- 12,889 bases
- Orientation:
- Minus strand
- chr11:74,165,886-74,178,774
- (GRCh37/hg19)
- Size:
- 12,889 bases
- Orientation:
- Minus strand
Genomic View for KCNE3 Gene
Genes around KCNE3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.4 by Entrez Gene
- 11q13.4 by HGNC
- 11q13.4 by Ensembl
KCNE3 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 KCNE3 Gene
Proteins for KCNE3 Gene
-
Protein details for KCNE3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y6H6-KCNE3_HUMAN
- Recommended name:
- Potassium voltage-gated channel subfamily E member 3
- Protein Accession:
- Q9Y6H6
Protein attributes for KCNE3 Gene
- Size:
- 103 amino acids
- Molecular mass:
- 11710 Da
- Quaternary structure:
-
- Interacts with KCNB1. Interacts with KCNC2 (By similarity). Associates with KCNC4/Kv3.4 (PubMed:11207363). Interacts with KCNQ1; produces a current with nearly instantaneous activation with a linear current-voltage relationship and alters membrane raft localization (By similarity) (PubMed:20533308).
Protein Expression for KCNE3 Gene
Post-translational modifications for KCNE3 Gene
Other Protein References for KCNE3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KCNE3
-
Abcam antibodies for KCNE3
- Invitrogen Antibodies for KCNE3
- GeneTex KCNE3 Antibody for KCNE3
-
Santa Cruz Biotechnology (SCBT) Antibodies for KCNE3
Protein Products
-
OriGene Purified Proteins for KCNE3
- Search Origene for MassSpec and Protein Over-expression Lysates for KCNE3
- Origene Custom Protein Services for KCNE3
- Search GeneTex for Proteins for KCNE3
Assay Products
No data available for DME Specific Peptides for KCNE3 Gene
Domains & Families for KCNE3 Gene
Gene Families for KCNE3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for KCNE3 Gene
Suggested Antigen Peptide Sequences for KCNE3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y6H6- Family:
-
- Belongs to the potassium channel KCNE family.
Function for KCNE3 Gene
Molecular function for KCNE3 Gene
- UniProtKB/Swiss-Prot Function:
- Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:12954870). Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion that produces a current with nearly instantaneous activation with a linear current-voltage relationship.
Phenotypes From GWAS Catalog for KCNE3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005249 | voltage-gated potassium channel activity | IEA | -- |
| GO:0005267 | potassium channel activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 20533308 |
| GO:0015459 | potassium channel regulator activity | IDA | 12954870 |
| GO:0044325 | ion channel binding | IEA | -- |
Phenotypes for KCNE3 Gene
- MGI mutant phenotypes for KCNE3:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for KCNE3:
Animal Models for KCNE3 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for KCNE3
- Cyagen custom Knockout/knockin (KOKI) mouse models for KCNE3
-
CRISPR Products
-
OriGene CRISPR knockouts for KCNE3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNE3
- genomics-online: gRNA clones - Search results for 109 available Kcne3 gene related products
- Overview of 109 available Kcne3 gene related products
- Applied Biological Materials CRISPR for KCNE3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNE3
- GenScript: Design CRISPR guide RNA sequences for KCNE3
miRNA for KCNE3 Gene
- miRTarBase miRNAs that target KCNE3
-
- hsa-mir-6516-5p (MIRT522900)
- hsa-mir-6803-5p (MIRT522901)
- hsa-mir-6751-5p (MIRT522902)
- hsa-mir-1273e (MIRT522903)
- hsa-mir-455-3p (MIRT522904)
- hsa-mir-6807-5p (MIRT522905)
- hsa-mir-4472 (MIRT522906)
- hsa-mir-4447 (MIRT522907)
- hsa-mir-92a-2-5p (MIRT522908)
- hsa-mir-6842-5p (MIRT522909)
- hsa-mir-7110-5p (MIRT522910)
- hsa-mir-6752-5p (MIRT522911)
- hsa-mir-6835-5p (MIRT522912)
- hsa-mir-6799-5p (MIRT522913)
- hsa-mir-6851-5p (MIRT522914)
- hsa-mir-3689d (MIRT522915)
- hsa-mir-6499-3p (MIRT522916)
- hsa-mir-6134 (MIRT522917)
- hsa-mir-1247-3p (MIRT522918)
miRNA Products
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for KCNE3
- Browse OriGene Inhibitory RNA Products For KCNE3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNE3
- genomics-online: shRNA clones - Search results for 109 available Kcne3 gene related products
- Overview of 109 available Kcne3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KCNE3
- VectorBuilder custom plasmid, inducible vectors for KCNE3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCNE3
-
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 KCNE3
- Applied Biological Materials Clones for KCNE3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KCNE3
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNE3 Gene
Localization for KCNE3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KCNE3 Gene
- Cell membrane; Single-pass type I membrane protein. Cytoplasm. Perikaryon. Cell projection, dendrite. Membrane raft. Note=Colocalizes with KCNB1 at high-density somatodendritic clusters on the surface of hippocampal neurons. {ECO:0000269 PubMed:12954870}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA,IEA | 12954870 |
| GO:0005886 | colocalizes_with plasma membrane | IPI | 10646604 |
| GO:0008076 | colocalizes_with voltage-gated potassium channel complex | IDA | 12954870 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNE3 Gene
Pathways & Interactions for KCNE3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction | ||
| 2 | Collagen chain trimerization | ||
| 3 | Antiarrhythmic Pathway, Pharmacodynamics | ||
| 4 | Dopamine-DARPP32 Feedback onto cAMP Pathway | ||
| 5 | Phase 0 - rapid depolarisation | ||
Pathways by source for KCNE3 Gene
4 Reactome pathways for KCNE3 Gene
1 PharmGKB pathway for KCNE3 Gene
1 KEGG pathway for KCNE3 Gene
1 Qiagen pathway for KCNE3 Gene
Interacting Proteins for KCNE3 Gene
Selected Interacting proteins:
Q9Y6H6-KCNE3_HUMAN
ENSP00000310557
for KCNE3 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for KCNE3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | IEA | -- |
| GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
| GO:0043266 | regulation of potassium ion transport | IEA | -- |
| GO:0060306 | regulation of membrane repolarization | IBA | -- |
No data available for SIGNOR curated interactions for KCNE3 Gene
Drugs & Compounds for KCNE3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Potassium | Approved, Investigational | Pharma | 0 | |||
| cyclic amp | Experimental | Pharma | 0 | |||
| Chromanol 293B | Pharma | Antagonist, Pore Blocker | IKs blocker. Also blocks ICFTR | 0 | ||
| Flupirtine maleate | Pharma | KV7 channel activator | 0 | |||
| Kaliotoxin | Pharma | KV and KCa blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Chloride ion |
|
16887-00-6 |
|
(4) Tocris Compounds for KCNE3 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Chromanol 293B | IKs blocker. Also blocks ICFTR | 163163-23-3 |
| Flupirtine maleate | KV7 channel activator | 75507-68-5 |
| Kaliotoxin | KV and KCa blocker | 145199-73-1 |
| MaxiPost | Potassium channel modulator; exerts subtype-specific effects | 187523-35-9 |
Transcripts for KCNE3 Gene
mRNA/cDNA for KCNE3 Gene
- (7) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (93) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000310128 3143 bps (uc001ovc.4)
- ENST00000525550 935 bps (uc001ovd.3)
- ENST00000532569 585 bps (uc058fjt.1)
- ENST00000531854 607 bps (uc058fju.1)
- ENST00000529425 555 bps (uc058fjv.1)
Unigene Clusters for KCNE3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KCNE3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNE3
- genomics-online: gRNA clones - Search results for 109 available Kcne3 gene related products
- Overview of 109 available Kcne3 gene related products
- Applied Biological Materials CRISPR for KCNE3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNE3
- GenScript: Design CRISPR guide RNA sequences for KCNE3
miRNA Products
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for KCNE3
- Browse OriGene Inhibitory RNA Products For KCNE3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNE3
- genomics-online: shRNA clones - Search results for 109 available Kcne3 gene related products
- Overview of 109 available Kcne3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KCNE3
- VectorBuilder custom plasmid, inducible vectors for KCNE3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCNE3
-
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 KCNE3
- Applied Biological Materials Clones for KCNE3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||
| SP2: | - | - | |||||||||||
| SP3: |
Expression for KCNE3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
-
Epithelial Cells
- Duct Cells Pancreatic Ducts
- Induced hepatocyte-like cells(Sekiya S et. al. 2011)
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Pancreas (Endocrine System)
- Duct Cells Pancreatic Ducts
- Liver (Hepatobiliary System)
-
Colon (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for KCNE3 Gene
This gene is overexpressed in Whole Blood (x15.3).
This gene is overexpressed in Testis (68.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNE3 Gene
NURSA nuclear receptor signaling pathways regulating expression of KCNE3 Gene:
KCNE3SOURCE GeneReport for Unigene cluster for KCNE3 Gene:
Hs.523899mRNA Expression by UniProt/SwissProt for KCNE3 Gene:
Q9Y6H6-KCNE3_HUMAN
Tissue specificity:
Expressed in hippocampal neurons (at protein level) (PubMed:12954870). Widely expressed with highest levels in kidney and moderate levels in small intestine.
Evidence on tissue expression from TISSUES for KCNE3 Gene
- Blood(4)
- Intestine(2.1)
- Stomach(2.1)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNE3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- endocrine
- nervous
- skeletal muscle
- urinary
Regions:
Head and neck:
- brain
- ear
- head
Thorax:
- heart
- heart valve
Abdomen:
- kidney
- pancreas
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- red blood cell
Primer Products
-
OriGene qPCR primer pairs for KCNE3
-
OriGene qPCR primer pairs and template standards for KCNE3
- genomics-online: primer clones - Search results for 109 available Kcne3 gene related products
- Overview of 109 available Kcne3 gene related products
Gene Expression Assay Products
Orthologs for KCNE3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KCNE3 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KCNE3 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KCNE3 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Kcne3 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Kcne3 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KCNE3 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KCNE3 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KCNE3 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kcne3 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | KCNE3 33 |
|
- Species where no ortholog for KCNE3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- lizard (Anolis carolinensis)
- 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 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)
- zebrafish (Danio rerio)
Evolution for KCNE3 Gene
- ENSEMBL:
- Gene Tree for KCNE3 (if available)
- TreeFam:
- Gene Tree for KCNE3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KCNE3: view image
Paralogs for KCNE3 Gene
(2) SIMAP similar genes for KCNE3 Gene using alignment to 6 proteins:
- KCNE3_HUMAN
- E9PJQ7_HUMAN
- E9PJV9_HUMAN
- E9PN03_HUMAN
- Q2N1I1_HUMAN
- Q6IAE6_HUMAN
No data available for Paralogs for KCNE3 Gene
Variants for KCNE3 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1009289016 | uncertain-significance, Brugada syndrome | 74,455,869(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs11236111 | likely-benign, Brugada syndrome | 74,457,172(-) | T/C | 3_prime_UTR_variant | |
| rs113583236 | uncertain-significance, Brugada syndrome | 74,456,156(-) | ATATATATATATATATATATATATA/ATATATATATATATATA/ATATATATATATATATATA/ATATATATATATATATATATA/ATATATATATATATATATATATATATATATATATA/ATATATATATATATATATATATATATATATATATATATA | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant | |
| rs118022255 | likely-benign, Brugada syndrome | 74,467,446(-) | C/A/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant | |
| rs11822977 | benign, likely-benign, not specified, Brugada syndrome | 74,457,235(-) | G/A | 3_prime_UTR_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv832209 | CNV | gain | 17160897 |
| nsv825994 | CNV | gain | 20364138 |
| nsv555443 | CNV | loss | 21841781 |
| nsv393 | CNV | deletion | 18451855 |
| nsv1041154 | CNV | loss | 25217958 |
| esv3626840 | CNV | gain | 21293372 |
| esv34979 | CNV | gain | 17911159 |
| esv2759837 | CNV | gain | 17122850 |
| dgv209e214 | CNV | gain | 21293372 |
Residual Variation Intolerance Score:
52.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.65;
13.97% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KCNE3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNE3 Gene
Disorders for KCNE3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brugada syndrome 6 |
|
|
| brugada syndrome |
|
|
| hypokalemic periodic paralysis, type 1 |
|
|
| familial periodic paralysis |
|
|
| periodic paralyses |
|
|
Search KCNE3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KCNE3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for KCNE3 Gene
Publications for KCNE3 Gene
- Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. (PMID: 19306396) Ohno S … Horie M (Human mutation 2009) 3 4 22 44 58
- Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis. (PMID: 14504341) Sternberg D … Fontaine B (Neurology 2003) 3 4 22 44 58
- No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients. (PMID: 15212652) Tang NL … Cockram CS (Clinical endocrinology 2004) 3 22 44 58
- Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. (PMID: 11874988) Abbott GW … Goldstein SA (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2002) 3 4 22 58
- MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. (PMID: 11207363) Abbott GW … Goldstein SA (Cell 2001) 3 4 22 58
Products for KCNE3 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
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- OriGene Purified Proteins for KCNE3
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- GenScript: Next-day shipping of latest version cDNA ORF clones for KCNE3 in any vector
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- GenScript: Design CRISPR guide RNA sequences for KCNE3
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- CloneReady with Over 120,000 Genes
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- Gene Mutant Library, Variants up to 10^11
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- Taconic Biosciences Mouse Models for KCNE3
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
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- Cyagen custom Knockout/knockin (KOKI) mouse models for KCNE3
- VectorBuilder custom plasmid, inducible vectors for KCNE3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCNE3
- 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 42 available Kcne3 Antibodies ranked by validation data
- Compare Top Kcne3 Antibodies
- antibodies-online: Search results for available Kcne3 related products ranked by validation data
- antibodies-online: Search results for available Kcne3 related products ranked by validation data
- GeneTex KCNE3 Antibody for KCNE3
- Search GeneTex for Proteins for KCNE3
- Santa Cruz Biotechnology (SCBT) Antibodies for KCNE3
- Search Santa Cruz Biotechnology (SCBT) for KCNE3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for KCNE3
- Horizon Cell Lines for KCNE3
- genomics-online: cdna clones - Search results for 109 available Kcne3 gene related products
- Overview of 109 available Kcne3 gene related products
- orf clones - Search results for 109 available Kcne3 gene related products
- Overview of 109 available Kcne3 gene related products
- genomics-online: gRNA clones - Search results for 109 available Kcne3 gene related products
- Overview of 109 available Kcne3 gene related products
- genomics-online: primer clones - Search results for 109 available Kcne3 gene related products
- Overview of 109 available Kcne3 gene related products
- genomics-online: shRNA clones - Search results for 109 available Kcne3 gene related products
- Overview of 109 available Kcne3 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNE3
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- GeneCopoeia miRNA 3'UTR Target clone products for KCNE3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNE3
Sources for KCNE3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (14) ProtoNet
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- (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
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- (133) ENCODE
- (134) ProSci
- (135) Horizon
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
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- (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