Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNMA1 Gene

Aliases for KCNMA1 Gene

  • Potassium Calcium-Activated Channel Subfamily M Alpha 1 2 3
  • Potassium Channel, Calcium Activated Large Conductance Subfamily M Alpha, Member 1 2 3 5
  • Potassium Large Conductance Calcium-Activated Channel, Subfamily M, Alpha Member 1 2 3
  • Calcium-Activated Potassium Channel, Subfamily M Subunit Alpha-1 3 4
  • Big Potassium Channel Alpha Subunit 2 3
  • BK Channel Alpha Subunit 2 3
  • Slowpoke Homolog 3 4
  • Slo Homolog 3 4
  • K(VCA)Alpha 3 4
  • SLO-ALPHA 3 4
  • KCa1.1 3 4
  • MaxiK 3 4
  • SLO1 3 4
  • HSlo 3 4
  • SLO 3 4
  • Stretch-Activated Kca Channel 3
  • Maxi-K Channel HSLO 3
  • BKCA Alpha Subunit 3
  • Maxi K Channel 4
  • MaxiK Channel 2
  • BA205K10.1 3
  • BK Channel 4
  • BKCA Alpha 4
  • SAKCA 3
  • MSLO1 3
  • KCNMA 4
  • BKTM 3

External Ids for KCNMA1 Gene

Previous HGNC Symbols for KCNMA1 Gene

  • SLO

Previous GeneCards Identifiers for KCNMA1 Gene

  • GC10M077593
  • GC10M077847
  • GC10M078530
  • GC10M077989
  • GC10M077983
  • GC10M078314
  • GC10M078629
  • GC10M072624

Summaries for KCNMA1 Gene

Entrez Gene Summary for KCNMA1 Gene

  • MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNMA1 Gene

KCNMA1 (Potassium Calcium-Activated Channel Subfamily M Alpha 1) is a Protein Coding gene. Diseases associated with KCNMA1 include Generalized Epilepsy And Paroxysmal Dyskinesia and Vitreous Detachment. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. GO annotations related to this gene include actin binding and voltage-gated potassium channel activity. An important paralog of this gene is KCNU1.

UniProtKB/Swiss-Prot for KCNMA1 Gene

  • Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX).

Tocris Summary for KCNMA1 Gene

  • Calcium (Ca2+) -activated potassium channels (KCa) are a group of 6/7-TM ion channels that selectively transport K+ ions across biological membranes. They are broadly classified into three subtypes: SK, IK and BK channels (small, intermediate and big conductance).

Gene Wiki entry for KCNMA1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNMA1 Gene

Genomics for KCNMA1 Gene

Regulatory Elements for KCNMA1 Gene

Enhancers for KCNMA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCNMA1 on UCSC Golden Path with GeneCards custom track

Promoters for KCNMA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNMA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNMA1 Gene

Chromosome:
10
Start:
76,869,601 bp from pter
End:
77,638,595 bp from pter
Size:
768,995 bases
Orientation:
Minus strand

Genomic View for KCNMA1 Gene

Genes around KCNMA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNMA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNMA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNMA1 Gene

Proteins for KCNMA1 Gene

  • Protein details for KCNMA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12791-KCMA1_HUMAN
    Recommended name:
    Calcium-activated potassium channel subunit alpha-1
    Protein Accession:
    Q12791
    Secondary Accessions:
    • F8WA96
    • Q12886
    • Q12917
    • Q12921
    • Q12960
    • Q13150
    • Q5JQ23
    • Q5SQR9
    • Q96LG8
    • Q9UBB0
    • Q9UCX0
    • Q9UQK6

    Protein attributes for KCNMA1 Gene

    Size:
    1236 amino acids
    Molecular mass:
    137560 Da
    Quaternary structure:
    • Homotetramer; which constitutes the calcium-activated potassium channel. Interacts with RAB11B (By similarity). Interacts with beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4. Interacts with gamma subunits LRRC26, LRRC38, LRRC52 and LRRC55. Beta and gamma subunits are accessory, and modulate its activity.
    Miscellaneous:
    • The protein was initially thought to contain two functionally distinct parts: The core channel (from the N-terminus to the S9 segment) that mediates the channel activity, and the cytoplasmic tail (from the S9 segment to the C-terminus) that mediates the calcium sensing. The situation is however more complex, since the core channel also contains binding sites for Ca(2+) and Mg(2+).
    SequenceCaution:
    • Sequence=AAA50216.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=AAB65837.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAC50353.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK91504.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD06365.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KCNMA1 Gene

    Alternative splice isoforms for KCNMA1 Gene

neXtProt entry for KCNMA1 Gene

Proteomics data for KCNMA1 Gene at MOPED

Post-translational modifications for KCNMA1 Gene

  • Palmitoylation by ZDHHC22 and ZDHHC23 within the intracellular linker between the S0 and S1 transmembrane domains regulates localization to the plasma membrane. Depalmitoylated by LYPLA1 and LYPLAL1, leading to retard exit from the trans-Golgi network.
  • Phosphorylated (Probable). Phosphorylation by kinases such as PKA and/or PKG. In smooth muscles, phosphorylation affects its activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCNMA1 Gene

Domains & Families for KCNMA1 Gene

Gene Families for KCNMA1 Gene

Graphical View of Domain Structure for InterPro Entry

Q12791

UniProtKB/Swiss-Prot:

KCMA1_HUMAN :
  • The S0 segment is essential for the modulation by the accessory beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4.
  • Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa1.1/KCNMA1 sub-subfamily.
Domain:
  • The S0 segment is essential for the modulation by the accessory beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4.
  • The S4 segment, which is characterized by a series of positively charged amino acids at every third position, is part of the voltage-sensor.
  • The pore-forming domain (also referred as P region) is imbedded into the membrane, and forms the selectivity filter of the pore. It contains the signature sequence of potassium channels that displays selectivity to potassium.
  • The RCK N-terminal domain mediates the homotetramerization, thereby promoting the assembly of monomers into functional potassium channel. It includes binding sites for Ca(2+) and Mg(2+) (By similarity).
  • The calcium bowl constitutes one of the Ca(2+) sensors and probably acts as a Ca(2+)-binding site. There are however other Ca(2+) sensors regions required for activation of the channel.
  • The heme-binding motif mediates inhibition of channel activation by heme. Carbon monoxide-bound heme leads to increased channel activation.
  • Contains 1 RCK N-terminal domain.
Family:
  • Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa1.1/KCNMA1 sub-subfamily.
genes like me logo Genes that share domains with KCNMA1: view

Function for KCNMA1 Gene

Molecular function for KCNMA1 Gene

GENATLAS Biochemistry:
potassium non voltage-gated,large conductance calcium activated channel Maxik,fundamental in the control of smooth muscle tone and neuronal excitability,pore forming alpha member 1,Drosophila slowpoke homolog,expressed in smooth muscle tissues like small intestine,colon,uterus,aorta
UniProtKB/Swiss-Prot EnzymeRegulation:
Ethanol and carbon monoxide-bound heme increase channel activation. Heme inhibits channel activation.
UniProtKB/Swiss-Prot Function:
Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX).

Gene Ontology (GO) - Molecular Function for KCNMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 voltage-gated potassium channel activity IEA,IDA 7877450
genes like me logo Genes that share ontologies with KCNMA1: view
genes like me logo Genes that share phenotypes with KCNMA1: view

Human Phenotype Ontology for KCNMA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNMA1 Gene

MGI Knock Outs for KCNMA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNMA1

miRNA for KCNMA1 Gene

miRTarBase miRNAs that target KCNMA1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNMA1 Gene

Localization for KCNMA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNMA1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNMA1 Gene COMPARTMENTS Subcellular localization image for KCNMA1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 3
cytosol 2
cytoskeleton 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for KCNMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with KCNMA1: view

Pathways & Interactions for KCNMA1 Gene

genes like me logo Genes that share pathways with KCNMA1: view

SIGNOR curated interactions for KCNMA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KCNMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 15528406
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA,IDA 7573516
GO:0007596 blood coagulation TAS --
GO:0034465 response to carbon monoxide IMP 18180950
genes like me logo Genes that share ontologies with KCNMA1: view

Drugs & Compounds for KCNMA1 Gene

(86) Drugs for KCNMA1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chlorzoxazone Approved Pharma Agonist, Activator, activator, Target 6
Diazoxide Approved Pharma Activator, Target, other Blocks desensitization of AMPA receptors 21
Bendroflumethiazide Approved Pharma Target, inducer 5
Cromoglicic acid Approved Pharma Target, inhibitor 0
Hydrochlorothiazide Approved Pharma Inhibition, Inhibitor, Target, other/unknown 396

(47) Additional Compounds for KCNMA1 Gene - From: Novoseek, IUPHAR, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17beta-estradiol
Agonist
BMS204352
Activator
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
76-05-1
1-EBIO
10045-45-1
BMS 191011
202821-81-6

(5) Tocris Compounds for KCNMA1 Gene

Compound Action Cas Number
1-EBIO Activator of epithelial KCa channels 10045-45-1
BMS 191011 Potent BKCa (KCa1.1) channel opener 202821-81-6
CyPPA Activator of KCa2.2 and KCa2.3 channels 73029-73-9
DCEBIO Activates Cl- conductance and hKCa3.1 channels 60563-36-2
SKA 31 Activator of KCa3.1 and KCa2 channels 40172-65-4

(15) ApexBio Compounds for KCNMA1 Gene

Compound Action Cas Number
Amiodarone HCl Anti-arrhythmic drug 19774-82-4
Dofetilide 115256-11-6
Dronedarone HCl Antiarrhythmic drugs 141625-93-6
Gliclazide 21187-98-4
Glipizide 29094-61-9
Glyburide 10238-21-8
Hydralazine HCl 304-20-1
Indapamide 26807-65-8
Minoxidil 38304-91-5
Mitiglinide Calcium 145525-41-3
ML133 HCl Potassium channel inhibitor for Kir2.1 1222781-70-5
Nateglinide Insulin secretagog agent 105816-04-4
Nicorandil Potassium channel activator 65141-46-0
Repaglinide Kir6 (KATP) channel blocker 135062-02-1
TRAM-34 KCa3.1 blocker,potent and highly selective 289905-88-0
genes like me logo Genes that share compounds with KCNMA1: view

Drug Products

Transcripts for KCNMA1 Gene

Unigene Clusters for KCNMA1 Gene

Potassium large conductance calcium-activated channel, subfamily M, alpha member 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNMA1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - - - - - - -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for KCNMA1 Gene

GeneLoc Exon Structure for
KCNMA1
ECgene alternative splicing isoforms for
KCNMA1

Expression for KCNMA1 Gene

mRNA expression in normal human tissues for KCNMA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KCNMA1 Gene

This gene is overexpressed in Colon (14.8), Urinary Bladder (12.9), Pancreatic juice (8.9), Rectum (8.8), Seminal vesicle (8.1), and Frontal cortex (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KCNMA1 Gene



SOURCE GeneReport for Unigene cluster for KCNMA1 Gene Hs.144795

mRNA Expression by UniProt/SwissProt for KCNMA1 Gene

Q12791-KCMA1_HUMAN
Tissue specificity: Widely expressed. Except in myocytes, it is almost ubiquitously expressed.
genes like me logo Genes that share expression patterns with KCNMA1: view

Protein tissue co-expression partners for KCNMA1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for KCNMA1 Gene

Orthologs for KCNMA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNMA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNMA1 35
  • 92.97 (n)
  • 98.17 (a)
KCNMA1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNMA1 35
  • 93.27 (n)
  • 96.36 (a)
KCNMA1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnma1 35
  • 93.58 (n)
  • 99.43 (a)
Kcnma1 16
Kcnma1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNMA1 35
  • 93.39 (n)
  • 92.25 (a)
rat
(Rattus norvegicus)
Mammalia Kcnma1 35
  • 93.26 (n)
  • 99.25 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNMA1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 94 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves KCNMA1 35
  • 85.68 (n)
  • 94.98 (a)
KCNMA1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNMA1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnma1 35
  • 77.31 (n)
  • 89.41 (a)
African clawed frog
(Xenopus laevis)
Amphibia kcnma1-A 35
zebrafish
(Danio rerio)
Actinopterygii kcnma1a 35
  • 81.26 (n)
  • 92.54 (a)
kcnma1a 36
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta slo 37
  • 61 (a)
slo 35
  • 60.02 (n)
  • 61.81 (a)
slo 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003709 35
  • 59.38 (n)
  • 61.62 (a)
worm
(Caenorhabditis elegans)
Secernentea slo-1 35
  • 58.02 (n)
  • 59.53 (a)
slo-1 36
  • 54 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2605 36
  • 67 (a)
OneToOne
Species with no ortholog for KCNMA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 KCNMA1 Gene

ENSEMBL:
Gene Tree for KCNMA1 (if available)
TreeFam:
Gene Tree for KCNMA1 (if available)

Paralogs for KCNMA1 Gene

Paralogs for KCNMA1 Gene

genes like me logo Genes that share paralogs with KCNMA1: view

Variants for KCNMA1 Gene

Sequence variations from dbSNP and Humsavar for KCNMA1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_023821 Generalized epilepsy and paroxysmal dyskinesia (GEPD)
rs1436089 -- 77,246,787(-) AAATG(A/G)CCTCT intron-variant
rs1436090 -- 77,197,476(-) AGAGA(A/G)ATAAA intron-variant
rs1439786 -- 77,456,793(+) ACAGT(C/T)GATTC intron-variant
rs1439787 -- 77,513,006(+) acacg(C/T)gtggc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNMA1 Gene

Variant ID Type Subtype PubMed ID
nsv831918 CNV Gain 17160897
nsv819647 CNV Gain 19587683
nsv7265 CNV Loss 18451855
esv2546728 CNV Deletion 19546169
esv2117658 CNV Deletion 18987734
esv2738474 CNV Deletion 23290073
esv6959 CNV Loss 19470904
esv999915 CNV Deletion 20482838
esv1199417 CNV Deletion 17803354
nsv24354 CNV Loss 16902084
esv2738485 CNV Deletion 23290073
esv2738496 CNV Deletion 23290073
nsv482996 CNV Loss 15286789
esv267825 CNV Insertion 20981092
nsv831919 CNV Loss 17160897
essv11507 CNV CNV 17122850
dgv302e1 CNV Complex 17122850
nsv8690 CNV Loss 18304495
esv2372613 CNV Deletion 18987734
nsv7276 CNV Loss 18451855
nsv8692 CNV Gain 18304495
nsv7287 CNV Loss 18451855
esv33067 CNV Loss 17666407
esv2641092 CNV Insertion 19546169
esv1550853 CNV Insertion 17803354
dgv303e1 CNV Complex 17122850
esv2738507 CNV Deletion 23290073
esv2738518 CNV Deletion 23290073
nsv510230 CNV Loss 20534489
esv34251 CNV Gain 17911159
esv26826 CNV Loss 19812545

Variation tolerance for KCNMA1 Gene

Residual Variation Intolerance Score: 1.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNMA1 Gene

Human Gene Mutation Database (HGMD)
KCNMA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNMA1 Gene

Disorders for KCNMA1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for KCNMA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
generalized epilepsy and paroxysmal dyskinesia
  • gepd
vitreous detachment
episodic ataxia, type 2
  • episodic ataxia type 2
smith-lemli-opitz syndrome
  • rutledge lethal multiple congenital anomaly syndrome
functional colonic disease
  • colonic diseases, functional
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KCMA1_HUMAN
  • Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446]: Epilepsy is one of the most common and debilitating neurological disorders. Paroxysmal dyskinesias are neurological disorders characterized by sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment. The coexistence of epilepsy and paroxysmal dyskinesia in the same individual or family is an increasingly recognized phenomenon. Patients manifest absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia, involuntary dystonic or choreiform movements. Onset is usually in childhood and patients may have seizures only, dyskinesia only, or both. {ECO:0000269 PubMed:15937479}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNMA1

Genetic Association Database (GAD)
KCNMA1
Human Genome Epidemiology (HuGE) Navigator
KCNMA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNMA1
genes like me logo Genes that share disorders with KCNMA1: view

No data available for Genatlas for KCNMA1 Gene

Publications for KCNMA1 Gene

  1. Cloning and characterization of human and mouse homologs of the Drosophila calcium-activated potassium channel gene, slowpoke. (PMID: 7987297) Pallanck L. … Ganetzky B. (Hum. Mol. Genet. 1994) 2 3 4 67
  2. Possible role of potassium channel, big K in etiology of schizophrenia. (PMID: 16446048) Zhang L. … Xing G. (Med. Hypotheses 2006) 23 25 26
  3. Inhibition of the human intermediate conductance Ca(2+)-activated K(+) channel, hIK1, by volatile anesthetics. (PMID: 10794813) Namba T. … Fukuda K. (Eur. J. Pharmacol. 2000) 23 25 26
  4. KCa channels as therapeutic targets in episodic ataxia type-2. (PMID: 20505091) AlviA+a K. … Khodakhah K. (J. Neurosci. 2010) 25 26
  5. {beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia. (PMID: 19204046) Lee U.S. … Cui J. (J. Physiol. (Lond.) 2009) 3 23

Products for KCNMA1 Gene

Sources for KCNMA1 Gene

Content