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KCNA5 Gene(Protein Coding)

Potassium Voltage-Gated Channel Subfamily A Member 5

GCID:
GC12P005043
GIFtS:
52
Genes Participants
UDN Logo

Aliases for KCNA5 Gene

Aliases for KCNA5 Gene

  • Potassium Voltage-Gated Channel Subfamily A Member 5 2 3 3 5
  • 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
  • HPCN1 3 4
  • Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 5 3
  • Voltage-Gated Potassium Channel Protein Kv1.5 3
  • Insulinoma And Islet Potassium Channel 3
  • Cardiac Potassium Channel 3
  • Potassium Channel 1 3
  • ATFB7 3
  • KV1.5 3
  • HCK1 3
  • PCN1 3
  • HK2 3

External Ids for KCNA5 Gene

Previous GeneCards Identifiers for KCNA5 Gene

  • GC12P004890
  • GC12P005045
  • GC12P005023
  • GC12P005153

Summaries for KCNA5 Gene

Entrez Gene Summary 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 Dopamine-DARPP32 Feedback onto cAMP Pathway and Potassium Channels. Gene Ontology (GO) annotations related to this gene include protein kinase binding and ion channel activity. An important paralog of this gene is KCNA4.

UniProtKB/Swiss-Prot 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).

Tocris Summary for KCNA5 Gene

  • 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.

Gene Wiki entry for KCNA5 Gene

Additional gene information for KCNA5 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNA5 Gene

Genomics for KCNA5 Gene

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GeneHancer (GH) Regulatory Elements for KCNA5 Gene

Promoters and enhancers for KCNA5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J005043 Enhancer 0.7 ENCODE dbSUPER 650.7 +0.0 11 0.2 SUZ12 ZNF341 KLF17 ZNF398 ZBTB8A GC12P005706 KCNA5
GH12J005429 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.3 +388.3 388268 6 ZSCAN4 YY1 ZNF335 GLIS2 EGR1 SCRT2 EGR2 RXRA ZBTB11 ZNF398 NTF3 LOC105369620 KCNA5 GC12M005446
GH12J005084 Enhancer 0.8 ENCODE dbSUPER 11.3 +40.5 40511 0.2 CTCF ZNF654 ZNF362 TRIM22 ZNF384 RAD21 SMC3 ZNF143 KCNA5 KCNA1 GC12P005706 LOC105369617
GH12J005075 Enhancer 0.6 dbSUPER 12.1 +34.8 34774 5.7 KLF17 ZBTB8A ZIC2 ATF2 ZSCAN21 GLIS1 PATZ1 ZNF629 CREB1 PRDM10 KCNA5 LOC105369618 GC12P005706 LOC105369617
GH12J005022 Enhancer 0.6 ENCODE 12 -21.3 -21289 0.2 CTCF ZNF654 ZFP37 TRIM22 SIN3A IRF4 RAD21 RELA ZNF143 SMC3 KCNA5 LOC100507560 LOC390282 ENSG00000256654
- 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 UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNA5 gene promoter:
  • AP-2alpha
  • GR-alpha
  • GR
  • AP-2gamma
  • AP-2beta
  • AP-2alphaA
  • Pax-5
  • GR-beta
  • LyF-1
  • Nkx6-1

Genomic Locations for KCNA5 Gene

Genomic Locations for KCNA5 Gene
chr12:5,043,919-5,046,788
(GRCh38/hg38)
Size:
2,870 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:
KCNA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNA5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KCNA5 Gene

Proteins for KCNA5 Gene

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  • 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
    Secondary Accessions:
    • 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; Positions=579; Evidence={ECO:0000305};

    Alternative splice isoforms for KCNA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNA5 Gene

Protein Expression for KCNA5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:

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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22460

UniProtKB/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.
genes like me logo Genes that share domains with KCNA5: view

Function for KCNA5 Gene

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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

Gene Ontology (GO) - Molecular Function 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,IEA --
GO:0005251 delayed rectifier potassium channel activity IEA,IMP 19343045
genes like me logo Genes that share ontologies with KCNA5: view
genes like me logo Genes that share phenotypes with KCNA5: view

Human Phenotype Ontology for KCNA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNA5 Gene

MGI Knock Outs for KCNA5:
  • Kcna5 Kcna5<tm1(Kcna1)Lndn>
  • Kcna5 Kcna5<tm1Hket>

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNA5

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNA5

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNA5 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
endoplasmic reticulum 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 IDA,IEA 12130714
GO:0005901 colocalizes_with caveola TAS 17060380
genes like me logo Genes that share ontologies with KCNA5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNA5 Gene

Pathways & Interactions for KCNA5 Gene

genes like me logo Genes that share pathways with KCNA5: view

Pathways by source for KCNA5 Gene

1 PharmGKB pathway for KCNA5 Gene
1 Qiagen pathway for KCNA5 Gene

Gene Ontology (GO) - Biological Process for KCNA5 Gene

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 --
genes like me logo Genes that share ontologies with KCNA5: view

No data available for SIGNOR curated interactions for KCNA5 Gene

Drugs & Compounds for KCNA5 Gene

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(25) Drugs for KCNA5 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bupivacaine Approved, Investigational Pharma Pore Blocker, blocker 1425
Flecainide Approved, Withdrawn Pharma Pore Blocker, blocker 43
Nifedipine Approved Pharma Gating inhibitor, Channel blocker, Antagonist, Pore Blocker, Agonist, Activator, blocker 123
Propafenone Approved Pharma Pore Blocker, blocker 30
Quinidine Approved, Investigational Pharma Pore Blocker, Inhibition, Inhibitor, blocker 48

(2) Additional Compounds for KCNA5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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
genes like me logo Genes that share compounds with KCNA5: view

Drug Products

Transcripts for KCNA5 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KCNA5 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(25) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNA5 Gene

Potassium voltage-gated channel, shaker-related subfamily, member 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNA5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNA5 Gene

No ASD Table

Relevant External Links for KCNA5 Gene

GeneLoc Exon Structure for
KCNA5
ECgene alternative splicing isoforms for
KCNA5

Expression for KCNA5 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNA5 Gene

mRNA expression in normal human tissues for KCNA5 Gene
mRNA expression by GTEx for KCNA5 GenemRNA expression by BioGPS for KCNA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for KCNA5 Gene

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



Protein tissue co-expression partners for KCNA5 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNA5 Gene:

KCNA5

SOURCE GeneReport for Unigene cluster for KCNA5 Gene:

Hs.150208

mRNA 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(3.7)
  • Nervous system(2.8)
  • Kidney(2.7)
  • Stomach(2.2)

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
genes like me logo Genes that share expression patterns with KCNA5: view

Orthologs for KCNA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KCNA5 34 33
  • 99.39 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia KCNA5 34 33
  • 90.08 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia KCNA5 34 33
  • 87.44 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 85 (a)
 ManyToMany
mouse
(Mus musculus)
 Mammalia Kcna5 16 34 33
  • 84.28 (n)
rat
(Rattus norvegicus)
 Mammalia Kcna5 33
  • 83.95 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNA5 34
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KCNA5 34 33
  • 70.8 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia KCNA5 34
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kcna5 33
  • 71.6 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC100004160 33
  • 73.1 (n)
CABZ01083827.1 34
  • 68 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Sh 34 35
  • 47 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea Y55F3C.3 35
  • 31 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 58 (a)
 ManyToMany
-- 34
  • 56 (a)
 ManyToMany
Species where no ortholog for KCNA5 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)
  • 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 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
genes like me logo Genes that share paralogs with KCNA5: view

Variants for KCNA5 Gene

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Sequence variations from dbSNP and Humsavar for KCNA5 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1020769441 uncertain-significance, Atrial fibrillation, familial, 7 5,044,995(+) G/A/T coding_sequence_variant, missense_variant
rs1056468 likely-benign, Familial atrial fibrillation 5,046,497(+) A/T 3_prime_UTR_variant
rs121908590 pathogenic, Atrial fibrillation, familial, 7 5,045,270(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs121908591 pathogenic, uncertain-significance, Atrial fibrillation, familial, 7, not specified 5,045,727(+) C/T coding_sequence_variant, missense_variant
rs121908592 pathogenic, Atrial fibrillation, familial, 7 5,045,874(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNA5 Gene

Variant ID Type Subtype PubMed ID
nsv1040098 CNV gain 25217958
nsv483060 CNV loss 15286789
nsv517406 CNV loss 19592680

Variation tolerance for KCNA5 Gene

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

Human Gene Mutation Database (HGMD)
KCNA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNA5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNA5 Gene

Disorders for KCNA5 Gene

MalaCards: The human disease database

(11) MalaCards diseases for KCNA5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
atrial fibrillation, familial, 7
  • atfb7
familial atrial fibrillation
  • atrial fibrillation, familial, 1
atrial fibrillation
  • a-fib
insulinoma
  • islet cell tumor
brugada syndrome 1
  • brgda1
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with KCNA5: view

No data available for Genatlas for KCNA5 Gene

Publications for KCNA5 Gene

  1. 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 22 58
  2. 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 22 58
  3. 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 58
  4. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PMID: 20346360) Roberts KE … Pulmonary Vascular Complications of Liver Disease Study Group (Gastroenterology 2010) 3 44 58
  5. 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 44 58

Products for KCNA5 Gene

Sources for KCNA5 Gene

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