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 - ... See more...

Aliases for KCNA4 Gene

Aliases for KCNA4 Gene

  • Potassium Voltage-Gated Channel Subfamily A Member 4 2 3 4 5
  • Voltage-Gated Potassium Channel Subunit Kv1.4 3 4
  • Voltage-Gated Potassium Channel HBK4 3 4
  • Voltage-Gated Potassium Channel HK1 3 4
  • Voltage-Gated K(+) Channel HuKII 3 4
  • KCNA4L 3 4
  • HPCN2 3 4
  • Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 4-Like 2
  • Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 4 3
  • Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 4 2
  • Fetal Skeletal Muscle Potassium Channel 3
  • Rapidly Inactivating Potassium Channel 3
  • Shaker-Related Potassium Channel Kv1.4 3
  • Cardiac Potassium Channel 3
  • Type A Potassium Channel 3
  • Potassium Channel 2 3
  • MCIDDS 3
  • HUKII 3
  • KCNA8 3
  • KV1.4 3
  • HBK4 3
  • PCN2 3
  • HK1 3

External Ids for KCNA4 Gene

Previous HGNC Symbols for KCNA4 Gene

  • KCNA4L

Previous GeneCards Identifiers for KCNA4 Gene

  • GC11M031625
  • GC11M030806
  • GC11M030070
  • GC11M029996
  • GC11M029988
  • GC11M029724
  • GC11M030031

Summaries for KCNA4 Gene

Entrez Gene Summary for KCNA4 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. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]

GeneCards Summary for KCNA4 Gene

KCNA4 (Potassium Voltage-Gated Channel Subfamily A Member 4) is a Protein Coding gene. Diseases associated with KCNA4 include Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum and Episodic Ataxia, Type 1. Among its related pathways are Aldosterone synthesis and secretion and Dopamine-DARPP32 Feedback onto cAMP Pathway. 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 Summary for KCNA4 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 (PubMed:19912772, PubMed:8495559). 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:8495559). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA4 forms a potassium channel that opens in response to membrane depolarization, followed by rapid spontaneous channel closure (PubMed:19912772, PubMed:8495559). Likewise, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368).

Tocris Summary for KCNA4 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 KCNA4 Gene

Additional gene information for KCNA4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNA4 Gene

Genomics for KCNA4 Gene

GeneHancer (GH) Regulatory Elements for KCNA4 Gene

Promoters and enhancers for KCNA4 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
GH11J030016 Promoter 1.4 EPDnew Ensembl CraniofacialAtlas 500.7 +0.4 429 1.6 CTCF SMC3 MXI1 E2F6 GLIS1 RNF2 EZH2 SUZ12 CHD2 BRCA1 HSALNG0083380 KCNA4 lnc-MPPED2-4
GH11J029780 Enhancer 0.3 Ensembl 9 +236.1 236129 1.4 ZFHX2 EGR2 KCNA4 piR-49378 piR-32461-030 ENSG00000254734 LINC02755
GH11J029958 Enhancer 0.3 Ensembl 6.4 +57.8 57829 0.8 CHD7 KCNA4 LINC01616 lnc-KCNA4-5 LINC02755
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNA4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNA4

Top Transcription factor binding sites by QIAGEN in the KCNA4 gene promoter:
  • ATF
  • C/EBPalpha
  • CHOP-10
  • FOXL1
  • LCR-F1
  • MIF-1
  • Nkx2-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for KCNA4 Gene

Genomic Locations for KCNA4 Gene
chr11:30,009,730-30,017,030
(GRCh38/hg38)
Size:
7,301 bases
Orientation:
Minus strand
chr11:30,031,288-30,038,577
(GRCh37/hg19)
Size:
7,290 bases
Orientation:
Minus strand

Genomic View for KCNA4 Gene

Genes around KCNA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNA4 Gene

Proteins for KCNA4 Gene

  • Protein details for KCNA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22459-KCNA4_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily A member 4
    Protein Accession:
    P22459

    Protein attributes for KCNA4 Gene

    Size:
    653 amino acids
    Molecular mass:
    73257 Da
    Quaternary structure:
    • Homotetramer and heterotetramer of potassium channel proteins (By similarity). Interacts with KCNAB1 and KCNAB2 (By similarity). Binds PDZ domains of DLG1, DLG2 and DLG4 (By similarity). Interacts with SIGMAR1 (By similarity). Detected in a complex with KCNA1 (By similarity). Interacts with KCNA2 (By similarity). Part of a complex containing KCNA1, KCNAB1 and LGI1 (By similarity). Interacts (via cytoplasmic N-terminal domain) with KCNRG (PubMed:19968958).

neXtProt entry for KCNA4 Gene

Post-translational modifications for KCNA4 Gene

  • Glycosylation at Asn352
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNA4 Gene

Domains & Families for KCNA4 Gene

Gene Families for KCNA4 Gene

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

Protein Domains for KCNA4 Gene

Blocks:
  • BTB/POZ domain
  • Potassium channel signature
  • Skaker voltage-gated K+ channel family signature
  • Kv1.4 voltage-gated K+ channel signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNA4 Gene

GenScript: Design optimal peptide antigens:
  • Voltage-gated potassium channel subunit Kv1.4 (KCNA4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22459

UniProtKB/Swiss-Prot:

KCNA4_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. Kv1.4/KCNA4 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 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. Kv1.4/KCNA4 sub-subfamily.
genes like me logo Genes that share domains with KCNA4: view

Function for KCNA4 Gene

Molecular function for KCNA4 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 (PubMed:19912772, PubMed:8495559). 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:8495559). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA4 forms a potassium channel that opens in response to membrane depolarization, followed by rapid spontaneous channel closure (PubMed:19912772, PubMed:8495559). Likewise, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 4-aminopyridine (4-AP), but not by tetraethylammonium (TEA) and charybdotoxin (CTX).
GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila shaker-related subfamily,member 4 (mouse Kv1.4 homolog)

Phenotypes From GWAS Catalog for KCNA4 Gene

Gene Ontology (GO) - Molecular Function for KCNA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IMP,TAS 19912772
GO:0005251 delayed rectifier potassium channel activity IBA 21873635
GO:0005267 potassium channel activity IEA --
GO:0005515 protein binding IPI,IEA 7477295
genes like me logo Genes that share ontologies with KCNA4: view
genes like me logo Genes that share phenotypes with KCNA4: view

Human Phenotype Ontology for KCNA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNA4 Gene

MGI Knock Outs for KCNA4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNA4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNA4 Gene

Localization for KCNA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNA4 Gene

Cell membrane; Multi-pass membrane protein. Cell projection, axon.

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 KCNA4 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KCNA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP 8495559
GO:0008076 voltage-gated potassium channel complex ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA,ISS --
genes like me logo Genes that share ontologies with KCNA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNA4 Gene

Pathways & Interactions for KCNA4 Gene

genes like me logo Genes that share pathways with KCNA4: view

Pathways by source for KCNA4 Gene

1 Qiagen pathway for KCNA4 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

Gene Ontology (GO) - Biological Process for KCNA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 2001794
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 KCNA4: view

No data available for SIGNOR curated interactions for KCNA4 Gene

Drugs & Compounds for KCNA4 Gene

(11) Drugs for KCNA4 Gene - From: DrugBank, ApexBio, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker, Inhibitor, Antagonist, Target, antagonist potassium channel-blocking agent 59
Potassium Approved, Experimental Pharma 0
Gliquidone Approved, Investigational Pharma 5
Tolbutamide Approved, Investigational Pharma Inhibitor CAMP inhibitor 29
Arginineamide Experimental Pharma Target 0

(1) Additional Compounds for KCNA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for KCNA4 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 KCNA4 Gene

Compound Action Cas Number
Gliquidone 33342-05-1
Tolbutamide CAMP inhibitor 64-77-7
genes like me logo Genes that share compounds with KCNA4: view

Drug Products

Transcripts for KCNA4 Gene

mRNA/cDNA for KCNA4 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNA4

Alternative Splicing Database (ASD) splice patterns (SP) for KCNA4 Gene

No ASD Table

Relevant External Links for KCNA4 Gene

GeneLoc Exon Structure for
KCNA4

Expression for KCNA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNA4 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x12.7), Brain - Caudate (basal ganglia) (x7.1), and Brain - Putamen (basal ganglia) (x6.0).

Protein differential expression in normal tissues from HIPED for KCNA4 Gene

This gene is overexpressed in Adrenal (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNA4 Gene



Protein tissue co-expression partners for KCNA4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNA4

SOURCE GeneReport for Unigene cluster for KCNA4 Gene:

Hs.592002

mRNA Expression by UniProt/SwissProt for KCNA4 Gene:

P22459-KCNA4_HUMAN
Tissue specificity: Expressed in brain, and at lower levels in the testis, lung, kidney, colon and heart (PubMed:27582084). Detected in heart ventricle.

Evidence on tissue expression from TISSUES for KCNA4 Gene

  • Nervous system(4.5)
  • Heart(4.4)
  • Muscle(4.4)
genes like me logo Genes that share expression patterns with KCNA4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNA4 Gene

Orthologs for KCNA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNA4 31 30
  • 99.85 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNA4 31
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNA4 31
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcna4 17 31 30
  • 91.07 (n)
rat
(Rattus norvegicus)
Mammalia Kcna4 30
  • 90.61 (n)
cow
(Bos Taurus)
Mammalia KCNA4 31 30
  • 89.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KCNA4 31 30
  • 82.9 (n)
OneToOne
chicken
(Gallus gallus)
Aves KCNA4 31 30
  • 72.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNA4 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcna4 30
  • 70.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398211 30
zebrafish
(Danio rerio)
Actinopterygii KCNA4 31
  • 77 (a)
OneToOne
kcna4 30
  • 67.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sh 31 32
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y55F3C.3 32
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
ManyToMany
-- 31
  • 55 (a)
ManyToMany
Species where no ortholog for KCNA4 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)
  • 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 KCNA4 Gene

ENSEMBL:
Gene Tree for KCNA4 (if available)
TreeFam:
Gene Tree for KCNA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNA4: view image

Paralogs for KCNA4 Gene

(14) SIMAP similar genes for KCNA4 Gene using alignment to 1 proteins:

  • KCNA4_HUMAN
genes like me logo Genes that share paralogs with KCNA4: view

Variants for KCNA4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNA4 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs779101828 Pathogenic: MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM. Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MCIDDS) [MIM:618284] 30,012,413(-) C/Tp.Arg89Gln MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KCNA4 Gene

Variation tolerance for KCNA4 Gene

Residual Variation Intolerance Score: 8.23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNA4 Gene

Human Gene Mutation Database (HGMD)
KCNA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNA4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KCNA4 Gene

Disorders for KCNA4 Gene

MalaCards: The human disease database

(16) MalaCards diseases for KCNA4 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
  • mcidds
episodic ataxia, type 1
  • ea1
nasopharyngeal carcinoma 2
  • nasopharyngeal carcinoma, susceptibility to, 2
episodic ataxia
  • isaacs syndrome
cataract
  • cataracts
- elite association - COSMIC cancer census association via MalaCards
Search KCNA4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNA4_HUMAN
  • Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MCIDDS) [MIM:618284]: An autosomal recessive syndrome characterized by cognitive impairment, attention deficit hyperactivity disorder, microcephaly, growth retardation, congenital cataract, and dystonia. Brain MRI shows unusual thinning of the lentiform nucleus, predominantly involving the putamen, and swelling in the caudate heads. {ECO:0000269 PubMed:27582084}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KCNA4

genes like me logo Genes that share disorders with KCNA4: view

No data available for Genatlas for KCNA4 Gene

Publications for KCNA4 Gene

  1. Sequence of a human fetal skeletal muscle potassium channel cDNA related to RCK4. (PMID: 2263489) Philipson LH … Steiner DF (Nucleic acids research 1990) 2 3 4 54
  2. Potassium channel regulator KCNRG regulates surface expression of Shaker-type potassium channels. (PMID: 19968958) Usman H … Mathew MK (Biochemical and biophysical research communications 2010) 3 4 54
  3. Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2. (PMID: 17156368) Imbrici P … Pessia M (The European journal of neuroscience 2006) 3 4 54
  4. 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 54
  5. Ligand binding of the second PDZ domain regulates clustering of PSD-95 with the Kv1.4 potassium channel. (PMID: 11723117) Imamura F … Fujiyoshi Y (The Journal of biological chemistry 2002) 3 23 54

Products for KCNA4 Gene

Sources for KCNA4 Gene