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Potassium channels represent the most complex class of voltage-gated ino 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. Four sequence-related potassium channel genes - ... See more...
Aliases for KCNA5 Gene
Aliases for KCNA5 Gene
- Potassium Voltage-Gated Channel Subfamily A Member 5 2 3 4 5
- HPCN1 2 3 4
- Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 5 2 3
- Voltage-Gated Potassium Channel Subunit Kv1.5 3 4
- Voltage-Gated Potassium Channel HK2 3 4
- HK2 2 3
- Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 5 3
- Voltage-Gated Potassium Channel Protein Kv1.5 3
External Ids for KCNA5 Gene
- HGNC: 6224
- Entrez Gene: 3741
- Ensembl: ENSG00000130037
- OMIM: 176267
- UniProtKB: P22460
Previous GeneCards Identifiers for KCNA5 Gene
- GC12P004890
- GC12P005045
- GC12P005023
- GC12P005153
Summaries for KCNA5 Gene
-
Potassium channels represent the most complex class of voltage-gated ino 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]
GeneCards Summary for KCNA5 Gene
KCNA5 (Potassium Voltage-Gated Channel Subfamily A Member 5) is a Protein Coding gene. Diseases associated with KCNA5 include Atrial Fibrillation, Familial, 7 and Familial Atrial Fibrillation. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include protein kinase binding and ion channel activity. An important paralog of this gene is KCNA2.
UniProtKB/Swiss-Prot Summary for KCNA5 Gene
-
Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12130714). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (PubMed:12130714). Homotetrameric channels display rapid activation and slow inactivation (PubMed:8505626, PubMed:12130714). May play a role in regulating the secretion of insulin in normal pancreatic islets. Isoform 2 exhibits a voltage-dependent recovery from inactivation and an excessive cumulative inactivation (PubMed:11524461).
-
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 KCNA5 Gene
- HGNC(6224)
- Entrez Gene(3741)
- Ensembl(ENSG00000130037)
- OMIM(176267)
- UniProtKB(P22460)
- Open Targets Platform(ENSG00000130037)
- Monarch Initiative
- Search for KCNA5 at DataMed
- Search for KCNA5 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNA5 Gene
Genomics for KCNA5 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KCNA5 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 KCNA5 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNA5
- Top Transcription factor binding sites by QIAGEN in the KCNA5 gene promoter:
-
- AP-2alpha
- AP-2alphaA
- AP-2beta
- AP-2gamma
- GR
- GR-alpha
- GR-beta
- LyF-1
- Nkx6-1
- Pax-5
Genomic Locations for KCNA5 Gene
Genomic Locations for KCNA5 Gene
- chr12:5,043,879-5,046,788
- (GRCh38/hg38)
- Size:
- 2,910 bases
- Orientation:
- Plus strand
- chr12:5,153,085-5,155,949
- (GRCh37/hg19)
- Size:
- 2,865 bases
- Orientation:
- Plus strand
Genomic View for KCNA5 Gene
Genes around KCNA5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.32 by HGNC
- 12p13.32 by Entrez Gene
- 12p13.32 by Ensembl
KCNA5 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 KCNA5 Gene
Proteins for KCNA5 Gene
-
Protein details for KCNA5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P22460-KCNA5_HUMAN
- Recommended name:
- Potassium voltage-gated channel subfamily A member 5
- Protein Accession:
- P22460
- Q4KKT8
- Q4VAJ1
- Q4VAJ2
- Q9UDA4
Protein attributes for KCNA5 Gene
- Size:
- 613 amino acids
- Molecular mass:
- 67228 Da
- Quaternary structure:
-
- Homotetramer and heterotetramer of potassium channel proteins. Interacts with DLG1, which enhances channel currents. Forms a ternary complex with DLG1 and CAV3 (By similarity). Interacts with KCNAB1 (PubMed:12130714). Interacts with UBE2I (PubMed:17261810).
- SequenceCaution:
-
- Sequence=AAA60146.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for KCNA5 Gene
Post-translational modifications for KCNA5 Gene
- Sumoylated on Lys-221, and Lys-536, preferentially with SUMO3. Sumoylation regulates the voltage sensitivity of the channel.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for KCNA5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ KCNA5 Antibody
- Alomone Labs, Ltd. Anti-KV1.3 (KCNA3) (extracellular)-FITC Antibody
- HUABIO KCNA5 Antibody (ER1803-23)
- BioLegend Purified anti-KCNA5
-
Custom Antibody ServicesOriGene Antibodies for KCNA5
- Novus Biologicals Antibodies for KCNA5
-
Abcam antibodies for KCNA5
- Invitrogen Antibodies for KCNA5 (AFLGC-Kcna5)
-
Santa Cruz Biotechnology (SCBT) Antibodies for KCNA5
Protein Products
-
OriGene Purified Proteins for KCNA5
- Search Origene for MassSpec and Protein Over-expression Lysates for KCNA5
- Origene Custom Protein Services for KCNA5
- Novus Biologicals proteins for KCNA5
- antibodies-online: Show 4 available KCNA5 Proteins ranked by validation data
- Compare Top KCNA5 Proteins
-
Quality Products:
-
Signalway Proteins for KCNA5
No data available for DME Specific Peptides for KCNA5 Gene
Domains & Families for KCNA5 Gene
Gene Families for KCNA5 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
- Transporters
- Voltage-gated ion channels
Protein Domains for KCNA5 Gene
- InterPro:
- Blocks:
-
- BTB/POZ domain
- Potassium channel signature
- Skaker voltage-gated K+ channel family signature
- Kv1.5 voltage-gated K+ channel signature
- ProtoNet:
Suggested Antigen Peptide Sequences for KCNA5 Gene
- GenScript: Design optimal peptide antigens:
-
- Voltage-gated potassium channel subunit Kv1.5 (KCNA5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P22460UniProtKB/Swiss-Prot:
KCNA5_HUMAN :- The amino terminus may be important in determining the rate of inactivation of the channel while the C-terminal PDZ-binding motif may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
- Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.5/KCNA5 sub-subfamily.
- Domain:
-
- The amino terminus may be important in determining the rate of inactivation of the channel while the C-terminal PDZ-binding motif may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
- The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.
- Family:
-
- Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.5/KCNA5 sub-subfamily.
Function for KCNA5 Gene
Molecular function for KCNA5 Gene
- UniProtKB/Swiss-Prot Function:
- Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12130714). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation (PubMed:12130714). Homotetrameric channels display rapid activation and slow inactivation (PubMed:8505626, PubMed:12130714). May play a role in regulating the secretion of insulin in normal pancreatic islets. Isoform 2 exhibits a voltage-dependent recovery from inactivation and an excessive cumulative inactivation (PubMed:11524461).
- GENATLAS Biochemistry:
- potassium voltage-gated channel,Drosophila shaker-related subfamily,member 5 (mouse Kv1.5 homolog)
Phenotypes From GWAS Catalog for KCNA5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | signaling receptor binding | IEA | -- |
| GO:0005216 | ion channel activity | IEA | -- |
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005249 | voltage-gated potassium channel activity | IBA | 21873635 |
| GO:0005251 | delayed rectifier potassium channel activity | IEA,IMP | 19343045 |
Phenotypes for KCNA5 Gene
- MGI mutant phenotypes for KCNA5:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for KCNA5:
Animal Models for KCNA5 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for KCNA5
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KCNA5 - Select products 50% OFF >
- * KCNA5 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 KCNA5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNA5
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNA5
miRNA for KCNA5 Gene
- miRTarBase miRNAs that target KCNA5
-
- hsa-miR-26b-5p (MIRT030147)
- hsa-miR-6883-5p (MIRT491224)
- hsa-miR-488-3p (MIRT491225)
- hsa-miR-6785-5p (MIRT491226)
- hsa-miR-4728-5p (MIRT491227)
- hsa-miR-149-3p (MIRT491228)
- hsa-miR-7106-5p (MIRT491229)
- hsa-miR-6797-5p (MIRT491230)
- hsa-miR-1249-5p (MIRT491231)
- hsa-miR-766-5p (MIRT491232)
- hsa-miR-6133 (MIRT491233)
- hsa-miR-6130 (MIRT491234)
- hsa-miR-6129 (MIRT491235)
- hsa-miR-6127 (MIRT491236)
- hsa-miR-4510 (MIRT491237)
- hsa-miR-6730-5p (MIRT491238)
- hsa-miR-4419a (MIRT491239)
- hsa-miR-5681a (MIRT491240)
- hsa-miR-4756-5p (MIRT491241)
- hsa-miR-4739 (MIRT491242)
- hsa-miR-1321 (MIRT491243)
- hsa-miR-4433b-3p (MIRT491244)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNA5
- Browse OriGene Inhibitory RNA Products For KCNA5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNA5
Clone Products
- Applied Biological Materials (abm): Clones for KCNA5 - Select products 50% OFF >
- * KCNA5 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
- Sino Biological Human cDNA Clone for KCNA5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNA5
Cell Line Products
-
Horizon Cell Lines for KCNA5
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNA5 Gene
Localization for KCNA5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KCNA5 Gene
- Cell membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| golgi apparatus | 4 |
| endoplasmic reticulum | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA,HDA | 16780588 |
| GO:0005886 | plasma membrane | IDA,TAS | -- |
| GO:0005887 | integral component of plasma membrane | IEA,IDA | 12130714 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNA5 Gene
Pathways & Interactions for KCNA5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Potassium Channels | ||
| 2 | Antiarrhythmic Pathway, Pharmacodynamics | ||
| 3 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Dopamine-DARPP32 Feedback onto cAMP Pathway
-
|
|
| 4 | Transmission across Chemical Synapses |
.62
|
|
Pathways by source for KCNA5 Gene
3 Reactome pathways for KCNA5 Gene
1 PharmGKB pathway for KCNA5 Gene
1 Qiagen pathway for KCNA5 Gene
- Dopamine-DARPP32 Feedback onto cAMP Pathway
Interacting Proteins for KCNA5 Gene
Selected Interacting proteins:
P22460-KCNA5_HUMAN
ENSP00000252321
for KCNA5 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KCNA5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001666 | response to hypoxia | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | IDA | 8576199 |
| GO:0007219 | Notch signaling pathway | IEA | -- |
| GO:0009612 | response to mechanical stimulus | IEA | -- |
No data available for SIGNOR curated interactions for KCNA5 Gene
Drugs & Compounds for KCNA5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Bupivacaine | Approved, Investigational | Pharma | Pore Blocker, blocker | 2037 | ||
| Flecainide | Approved, Withdrawn | Pharma | Pore Blocker, blocker | 50 | ||
| Nifedipine | Approved | Pharma | Channel blocker, Gating inhibitor, Antagonist, Pore Blocker, Agonist, Activator, blocker | 148 | ||
| Propafenone | Approved | Pharma | Pore Blocker, blocker | 37 | ||
| Quinidine | Approved, Investigational | Pharma | Pore Blocker, Inhibitor, Inhibition, blocker | 57 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Kaliotoxin |
|
145199-73-1 |
|
|
(4) Tocris Compounds for KCNA5 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 |
(2) ApexBio Compounds for KCNA5 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Gliquidone | 33342-05-1 | |
| Tolbutamide | CAMP inhibitor | 64-77-7 |
Transcripts for KCNA5 Gene
mRNA/cDNA for KCNA5 Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000252321 2910 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KCNA5 - Select products 50% OFF >
- * KCNA5 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 KCNA5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNA5
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNA5
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNA5
- Browse OriGene Inhibitory RNA Products For KCNA5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNA5
Clone Products
- Applied Biological Materials (abm): Clones for KCNA5 - Select products 50% OFF >
- * KCNA5 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
- Sino Biological Human cDNA Clone for KCNA5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNA5
Relevant External Links for KCNA5 Gene
- GeneLoc Exon Structure for
- KCNA5
Expression for KCNA5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- Adult Dopaminergic Neurons Ventral Tegmental Area
- GABAergic Amacrine Cells Inner Nuclear Layer
- Mature Rod Bipolar Cells Inner Nuclear Layer
- Type1 Off Cone Bipolar Cells Inner Nuclear Layer
-
Brain (Nervous System)
- Adult Dopaminergic Neurons Ventral Tegmental Area
- Mature Endothelial Cells Blood Brain Barrier
- Pituitary Gland
- Cerebellum
- Medulla Oblongata
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- GABAergic Amacrine Cells Inner Nuclear Layer
- Mature Rod Bipolar Cells Inner Nuclear Layer
- Type1 Off Cone Bipolar Cells Inner Nuclear Layer
- Neural Tube (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Adipose (Muscoskeletal System)
-
Blood (Hematopoietic System)
- Plasmacytoid Dendritic cells Peripheral Blood
-
Mesoderm (Gastrulation Derivatives)
- Mesothelial Cells Hepatic Mesenchyme
-
Liver (Hepatobiliary System)
- Mesothelial Cells Hepatic Mesenchyme
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Intestine (Gastrointestinal Tract)
-
Pancreas (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for KCNA5 Gene
This gene is overexpressed in Artery - Coronary (x9.1), Heart - Atrial Appendage (x8.8), Artery - Tibial (x8.5), and Artery - Aorta (x7.8).
This gene is overexpressed in Retina (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNA5 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNA5
SOURCE GeneReport for Unigene cluster for KCNA5 Gene:
Hs.150208mRNA Expression by UniProt/SwissProt for KCNA5 Gene:
P22460-KCNA5_HUMAN
Tissue specificity:
Pancreatic islets and insulinoma.
Evidence on tissue expression from TISSUES for KCNA5 Gene
- Heart(4.7)
- Muscle(3.9)
- Nervous system(3.2)
- Kidney(3)
- Stomach(2.8)
- Intestine(2.8)
- Liver(2.7)
- Blood(2.3)
- Skin(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNA5 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 for KCNA5
-
OriGene qPCR primer pairs and template standards for KCNA5
Gene Expression Assay Products
Orthologs for KCNA5 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KCNA5 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KCNA5 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KCNA5 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Mouse (Mus musculus) |
Mammalia | Kcna5 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kcna5 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | KCNA5 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KCNA5 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | KCNA5 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kcna5 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100004160 30 |
|
||
| CABZ01083827.1 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sh 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y55F3C.3 32 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany |
- Species where no ortholog for KCNA5 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)
- 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 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)
Evolution for KCNA5 Gene
- ENSEMBL:
- Gene Tree for KCNA5 (if available)
- TreeFam:
- Gene Tree for KCNA5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KCNA5: view image
Paralogs for KCNA5 Gene
Paralogs for KCNA5 Gene
(12) SIMAP similar genes for KCNA5 Gene using alignment to 1 proteins:
- KCNA5_HUMAN
Variants for KCNA5 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNA5 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 469582 | Benign: Atrial fibrillation, familial, 7 | 5,045,296(+) | TG/CA | MISSENSE_VARIANT | |
| 638821 | Uncertain Significance: Atrial fibrillation, familial, 7 | 5,044,853(+) | G/A | MISSENSE_VARIANT | |
| 640925 | Uncertain Significance: Atrial fibrillation, familial, 7 | 5,044,335(+) | G/T | MISSENSE_VARIANT | |
| 648351 | Uncertain Significance: Atrial fibrillation, familial, 7 | 5,045,849(+) | G/T | MISSENSE_VARIANT | |
| 653091 | Uncertain Significance: Atrial fibrillation, familial, 7 | 5,044,377(+) | C/G | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.40;
54.31% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KCNA5 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNA5 Gene
Disorders for KCNA5 Gene
(17) MalaCards diseases for KCNA5 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| atrial fibrillation, familial, 7 |
|
|
| familial atrial fibrillation |
|
|
| atrial fibrillation |
|
|
| insulinoma |
|
|
| pulmonary hypertension |
|
|
Search KCNA5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KCNA5_HUMAN- Atrial fibrillation, familial, 7 (ATFB7) [MIM:612240]: 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:16772329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for KCNA5
- 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 KCNA5 Gene
Publications for KCNA5 Gene
- A specific N-terminal residue in Kv1.5 is required for upregulation of the channel by SAP97. (PMID: 16466689) Mathur R … Fedida D (Biochemical and biophysical research communications 2006) 3 4 23
- Sequence and functional expression in Xenopus oocytes of a human insulinoma and islet potassium channel. (PMID: 1986382) Philipson LH … Steiner DF (Proceedings of the National Academy of Sciences of the United States of America 1991) 3 4 23
- Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. (PMID: 24936649) Pousada G … Valverde D (PloS one 2014) 3 4
- Tetramerization domain mutations in KCNA5 affect channel kinetics and cause abnormal trafficking patterns. (PMID: 20018952) Burg ED … Yuan JX (American journal of physiology. Cell physiology 2010) 3 23
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
ExternalLinks
Products for KCNA5 Gene
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Sources for KCNA5 Gene
- (1) GeneCards
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