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Aliases for KCNA7 Gene

Aliases for KCNA7 Gene

  • Potassium Voltage-Gated Channel Subfamily A Member 7 2 3 3 5
  • Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 7 2 3
  • Voltage-Gated Potassium Channel Subunit Kv1.7 3 4
  • Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 7 3
  • Voltage-Dependent Potassium Channel Kv1.7 3
  • Voltage-Gated Potassium Channel KCNA7 3
  • KV1.7 3
  • HAK6 3

External Ids for KCNA7 Gene

Previous GeneCards Identifiers for KCNA7 Gene

  • GC19M050228
  • GC19M049938
  • GC19M054246
  • GC19M054262
  • GC19M049570
  • GC19M045947

Summaries for KCNA7 Gene

Entrez Gene Summary for KCNA7 Gene

  • Potassium 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. 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. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNA7 Gene

KCNA7 (Potassium Voltage-Gated Channel Subfamily A Member 7) is a Protein Coding gene. Diseases associated with KCNA7 include Progressive Familial Heart Block. Among its related pathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Potassium Channels. Gene Ontology (GO) annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNA3.

UniProtKB/Swiss-Prot for KCNA7 Gene

  • Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity).

Tocris Summary for KCNA7 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 KCNA7 Gene

Additional gene information for KCNA7 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNA7 Gene

Genomics for KCNA7 Gene

GeneHancer (GH) Regulatory Elements for KCNA7 Gene

Promoters and enhancers for KCNA7 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
GH19J049072 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE 657.5 -0.7 -739 1.7 HDGF HDAC1 RAD21 ZNF48 ZNF280A ZNF335 ZNF366 ZNF654 ZBTB2 YY2 KCNA7 NTF4 SNRNP70 CGB8 MAMSTR SULT2B1 GC19P049082
GH19J049071 Enhancer 0.6 ENCODE 650.7 +0.9 922 0.2 KLF1 L3MBTL2 BHLHE40 SP2 EGR1 SMARCA4 POLR2A KLF8 SETDB1 MGA GC19M049070 KCNA7 NTF4
GH19J048988 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 11.3 +80.9 80888 7.2 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A FEZF1 ZBTB7B RUVBL2 GYS1 NUP62 GRWD1 PTOV1-AS2 SNORD35A ENSG00000268047 IRF3 SNORD35B SNRNP70
GH19J049113 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.6 -41.5 -41538 2.2 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZBTB7B SLC30A9 POLR2B LIN7B CGB8 SNRNP70 NTF4 CGB7 KCNA7 C19orf73
GH19J048977 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11 +93.8 93795 2.9 PKNOX1 ATF1 SIN3A GLIS2 ZNF143 FOS ATF7 RUNX3 SP3 JUNB NUCB1-AS1 NUCB1 KCNA7 TULP2 CGB7 NTF4 C19orf73 FUT1 GYS1 RUVBL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNA7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNA7 gene promoter:
  • p53
  • CBF-A
  • Evi-1
  • CBF(2)
  • CBF-B
  • CP1A
  • NF-Y
  • NF-YA
  • NF-YB
  • SREBP-1a

Genomic Locations for KCNA7 Gene

Genomic Locations for KCNA7 Gene
chr19:49,067,418-49,072,941
(GRCh38/hg38)
Size:
5,524 bases
Orientation:
Minus strand
chr19:49,570,675-49,576,198
(GRCh37/hg19)
Size:
5,524 bases
Orientation:
Minus strand

Genomic View for KCNA7 Gene

Genes around KCNA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNA7 Gene

Proteins for KCNA7 Gene

  • Protein details for KCNA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RP8-KCNA7_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily A member 7
    Protein Accession:
    Q96RP8
    Secondary Accessions:
    • A1KYX7
    • Q9BYS4

    Protein attributes for KCNA7 Gene

    Size:
    456 amino acids
    Molecular mass:
    50559 Da
    Quaternary structure:
    • Heterotetramer of potassium channel proteins.

neXtProt entry for KCNA7 Gene

Post-translational modifications for KCNA7 Gene

  • Glycosylation at Asn191
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNA7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNA7 Gene

Domains & Families for KCNA7 Gene

Gene Families for KCNA7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for KCNA7 Gene

Graphical View of Domain Structure for InterPro Entry

Q96RP8

UniProtKB/Swiss-Prot:

KCNA7_HUMAN :
  • The N-terminus may be important in determining the rate of inactivation of the channel while the tail 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. Kv1.7/KCNA7 sub-subfamily.
Domain:
  • The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.7/KCNA7 sub-subfamily.
genes like me logo Genes that share domains with KCNA7: view

Function for KCNA7 Gene

Molecular function for KCNA7 Gene

UniProtKB/Swiss-Prot Function:
Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity).
GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila shaker-related subfamily,member 7 (mouse Kv1.7 homolog),expressed in heart,skeletal muscle and pancreatic islet cells

Phenotypes From GWAS Catalog for KCNA7 Gene

Gene Ontology (GO) - Molecular Function for KCNA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005251 delayed rectifier potassium channel activity IBA --
GO:0005267 potassium channel activity IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KCNA7: view
genes like me logo Genes that share phenotypes with KCNA7: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNA7

CRISPR Products

miRNA for KCNA7 Gene

miRTarBase miRNAs that target KCNA7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNA7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNA7 Gene

Localization for KCNA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNA7 Gene

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 KCNA7 gene
Compartment Confidence
plasma membrane 5
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
GO:0030424 axon IBA --
genes like me logo Genes that share ontologies with KCNA7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNA7 Gene

Pathways & Interactions for KCNA7 Gene

genes like me logo Genes that share pathways with KCNA7: view

Pathways by source for KCNA7 Gene

1 Qiagen pathway for KCNA7 Gene

Gene Ontology (GO) - Biological Process for KCNA7 Gene

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:0051260 protein homooligomerization IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNA7: view

No data available for SIGNOR curated interactions for KCNA7 Gene

Drugs & Compounds for KCNA7 Gene

(10) Drugs for KCNA7 Gene - From: DrugBank, DGIdb, IUPHAR, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiodarone Approved, Investigational Pharma Pore Blocker, blocker 128
Flecainide Approved, Withdrawn Pharma Pore Blocker, blocker 43
Quinidine Approved, Investigational Pharma Pore Blocker, Inhibition, Inhibitor, blocker 48
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibition, Inhibitor, blocker 135
4-Aminopyridine Approved Pharma Pore Blocker, Inhibitor, Antagonist, Target, antagonist potassium channel-blocking agent 73

(4) Tocris Compounds for KCNA7 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
genes like me logo Genes that share compounds with KCNA7: view

Transcripts for KCNA7 Gene

mRNA/cDNA for KCNA7 Gene

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

Unigene Clusters for KCNA7 Gene

Potassium voltage-gated channel, shaker-related subfamily, member 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNA7

Alternative Splicing Database (ASD) splice patterns (SP) for KCNA7 Gene

No ASD Table

Relevant External Links for KCNA7 Gene

GeneLoc Exon Structure for
KCNA7
ECgene alternative splicing isoforms for
KCNA7

Expression for KCNA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNA7 Gene

mRNA differential expression in normal tissues according to GTEx for KCNA7 Gene

This gene is overexpressed in Muscle - Skeletal (x46.6).

NURSA nuclear receptor signaling pathways regulating expression of KCNA7 Gene:

KCNA7

SOURCE GeneReport for Unigene cluster for KCNA7 Gene:

Hs.306973

mRNA Expression by UniProt/SwissProt for KCNA7 Gene:

Q96RP8-KCNA7_HUMAN
Tissue specificity: Highly expressed in skeletal muscle, heart and kidney.

Evidence on tissue expression from TISSUES for KCNA7 Gene

  • Muscle(4.4)
  • Heart(4.2)
genes like me logo Genes that share expression patterns with KCNA7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNA7 Gene

Orthologs for KCNA7 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNA7 34 33
  • 99.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KCNA7 34 33
  • 88.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KCNA7 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcna7 33
  • 86.43 (n)
mouse
(Mus musculus)
Mammalia Kcna7 16 34 33
  • 86.35 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNA7 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNA7 34
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNA7 34
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sh 34 35
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y55F3C.3 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
ManyToMany
-- 34
  • 52 (a)
ManyToMany
Species where no ortholog for KCNA7 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)
  • chicken (Gallus gallus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for KCNA7 Gene

ENSEMBL:
Gene Tree for KCNA7 (if available)
TreeFam:
Gene Tree for KCNA7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNA7: view image

Paralogs for KCNA7 Gene

(19) SIMAP similar genes for KCNA7 Gene using alignment to 2 proteins:

  • KCNA7_HUMAN
  • B2RU13_HUMAN
genes like me logo Genes that share paralogs with KCNA7: view

Variants for KCNA7 Gene

Sequence variations from dbSNP and Humsavar for KCNA7 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000226270 -- 49,073,191(-) T/A upstream_transcript_variant
rs1000462682 -- 49,068,446(-) G/A 3_prime_UTR_variant
rs1000558742 -- 49,071,293(-) C/A/T intron_variant
rs1002122626 -- 49,071,818(-) T/A intron_variant
rs1003002220 -- 49,071,171(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNA7 Gene

Variant ID Type Subtype PubMed ID
dgv3619n100 CNV gain 25217958
nsv520785 CNV gain 19592680
nsv828577 CNV gain 20364138
nsv833857 CNV loss 17160897
nsv833859 CNV loss 17160897
nsv953598 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for KCNA7 Gene

Residual Variation Intolerance Score: 15.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.93; 97.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNA7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNA7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNA7 Gene

Disorders for KCNA7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNA7 Gene - From: GeneCards

Disorder Aliases PubMed IDs
progressive familial heart block
  • pccd
- elite association - COSMIC cancer census association via MalaCards
Search KCNA7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KCNA7

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 KCNA7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNA7 Gene

Publications for KCNA7 Gene

  1. Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI). (PMID: 11896454) Bardien-Kruger S … Corfield V (European journal of human genetics : EJHG 2002) 3 4 22 58
  2. Initial isolation and analysis of the human Kv1.7 (KCNA7) gene, a member of the voltage-gated potassium channel gene family. (PMID: 11368907) Kashuba VI … Zabarovsky ER (Gene 2001) 3 4 22 58
  3. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman GA … Wang X (Pharmacological reviews 2005) 2 3 58
  4. [Distribution and significance of cSNP in KCNA7 gene as a novel NIDDM candidate gene in the population of northeast China]. (PMID: 15639836) Ding Q … Guo L (Yi chuan = Hereditas 2003) 3 44 58
  5. Genomic organization, chromosomal localization, tissue distribution, and biophysical characterization of a novel mammalian Shaker-related voltage-gated potassium channel, Kv1.7. (PMID: 9488722) Kalman K … Chandy KG (The Journal of biological chemistry 1998) 3 22 58

Products for KCNA7 Gene

Sources for KCNA7 Gene

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