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Aliases for KCNAB2 Gene

Aliases for KCNAB2 Gene

  • Potassium Voltage-Gated Channel Subfamily A Regulatory Beta Subunit 2 2 3 5
  • Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Beta Member 2 2 3
  • Potassium Channel, Voltage Gated Subfamily A Regulatory Beta Subunit 2 2 3
  • K(+) Channel Subunit Beta-2 3 4
  • KV-BETA-2 3 4
  • HKvbeta2 3 4
  • KCNA2B 3 4
  • Voltage-Gated Potassium Channel Subunit Beta-2 3
  • HKvbeta2.1 3
  • HKvbeta2.2 3
  • EC 1.1.1.- 4
  • AKR6A5 3
  • KCNK2 4

External Ids for KCNAB2 Gene

Previous GeneCards Identifiers for KCNAB2 Gene

  • GC01P005677
  • GC01P005909
  • GC01P005795
  • GC01P005235

Summaries for KCNAB2 Gene

Entrez Gene Summary for KCNAB2 Gene

  • Voltage-gated potassium (Kv) 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 is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]

GeneCards Summary for KCNAB2 Gene

KCNAB2 (Potassium Voltage-Gated Channel Subfamily A Regulatory Beta Subunit 2) is a Protein Coding gene. Diseases associated with KCNAB2 include Chromosome 1P36 Deletion Syndrome and Episodic Ataxia/Myokymia Syndrome. Among its related pathways are Cytochrome P450 - arranged by substrate type and Immune System. GO annotations related to this gene include voltage-gated potassium channel activity and aldo-keto reductase (NADP) activity. An important paralog of this gene is KCNAB1.

UniProtKB/Swiss-Prot for KCNAB2 Gene

  • Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7649300, PubMed:11825900). Contributes to the regulation of nerve signaling, and prevents neuronal hyperexcitability (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore (PubMed:7649300, PubMed:11825900). Promotes KCNA4 channel closure (PubMed:7649300, PubMed:11825900). Modulates the functional properties of KCNA5 (By similarity). Enhances KCNB2 channel activity (By similarity). Binds NADPH and has NADPH-dependent aldoketoreductase activity (By similarity). Has broad substrate specificity and can catalyze the reduction of methylglyoxal, 9,10-phenanthrenequinone, prostaglandin J2, 4-nitrobenzaldehyde, 4-nitroacetophenone and 4-oxo-trans-2-nonenal (in vitro) (By similarity).

Tocris Summary for KCNAB2 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 KCNAB2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNAB2 Gene

Genomics for KCNAB2 Gene

Regulatory Elements for KCNAB2 Gene

Enhancers for KCNAB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F006024 0.8 FANTOM5 ENCODE 15.6 +35.9 35893 5.3 HDGF PKNOX1 MLX WRNIP1 SIN3A ARID4B DMAP1 ZNF48 ZNF121 ELK1 KCNAB2 NPHP4 TNFRSF25 GC01M006038
GH01F006170 0.7 FANTOM5 Ensembl 12.2 +179.9 179935 1.6 CTCF MAX CEBPG ZIC2 RAD21 HIC1 ZNF121 ZFHX2 ZNF143 SMC3 CHD5 KCNAB2 RNF207 ICMT PLEKHG5 LOC105376687
GH01F006008 1.1 Ensembl ENCODE 9 +18.3 18254 1.5 ZNF384 CEBPG TEAD3 ADNP NR2F6 GATAD2A TEAD1 NR2F1 CEBPB HDAC2 RNF207 RPL22 LOC102724450 KCNAB2 NPHP4 GC01M006038
GH01F006034 0.6 Ensembl 8.1 +43.1 43074 0.7 BCOR CTCF ATF1 ZMYM3 NFXL1 ZNF48 RAD21 ZFHX2 NFYB SCRT2 KCNAB2 GC01M006038 NPHP4
GH01F005990 0.8 FANTOM5 ENCODE 7.8 +1.7 1702 4.6 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A ZNF766 ZNF143 ZNF207 FOS TNFRSF25 NPHP4 PHF13 ZBTB48 KCNAB2 CHD5 GC01M006038
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KCNAB2 on UCSC Golden Path with GeneCards custom track

Promoters for KCNAB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000278744 1234 3001 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A ZNF766 ZNF143 ZNF207 FOS

Genomic Location for KCNAB2 Gene

Chromosome:
1
Start:
5,991,466 bp from pter
End:
6,101,193 bp from pter
Size:
109,728 bases
Orientation:
Plus strand

Genomic View for KCNAB2 Gene

Genes around KCNAB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNAB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNAB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNAB2 Gene

Proteins for KCNAB2 Gene

  • Protein details for KCNAB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13303-KCAB2_HUMAN
    Recommended name:
    Voltage-gated potassium channel subunit beta-2
    Protein Accession:
    Q13303
    Secondary Accessions:
    • A0AVM9
    • A8K1A4
    • B0AZR7
    • O43659
    • Q2YD85
    • Q5TG82
    • Q5TG83
    • Q6ZNE4
    • Q99411

    Protein attributes for KCNAB2 Gene

    Size:
    367 amino acids
    Molecular mass:
    41000 Da
    Quaternary structure:
    • Homotetramer (By similarity). Interaction with tetrameric potassium channel alpha subunits gives rise to a heterooctamer (By similarity). Identified in potassium channel complexes containing KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNAB1 and KCNAB2 (By similarity). Interacts with KCNA1 (PubMed:11086297). Interacts with KCNA2 (PubMed:11086297). Interacts with KCNA4 and KCND3 (By similarity). Interacts with KCNA5 (By similarity). Interacts with KCNB2 (By similarity). Interacts (in unphosphorylated form) with MAPRE1 (By similarity). Forms a ternary complex with SQSTM1 and PRKCZ (By similarity).

    Three dimensional structures from OCA and Proteopedia for KCNAB2 Gene

    Alternative splice isoforms for KCNAB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNAB2 Gene

Post-translational modifications for KCNAB2 Gene

  • Phosphorylated by PRKCZ; may be regulated by incorporation in a complex composed of PRKCZ and SQSTM1.
  • Ubiquitination at Lys 290
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNAB2 Gene

Domains & Families for KCNAB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13303

UniProtKB/Swiss-Prot:

KCAB2_HUMAN :
  • In contrast to KCNAB1, the shorter N-terminal domain of KCNAB2 cannot mediate closure of delayed rectifier potassium channels by physically obstructing the pore.
  • Belongs to the shaker potassium channel beta subunit family.
Domain:
  • In contrast to KCNAB1, the shorter N-terminal domain of KCNAB2 cannot mediate closure of delayed rectifier potassium channels by physically obstructing the pore.
Family:
  • Belongs to the shaker potassium channel beta subunit family.
genes like me logo Genes that share domains with KCNAB2: view

Function for KCNAB2 Gene

Molecular function for KCNAB2 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila shaker-related subfamily,mainly expressed in the brain,auxiliary beta 2 cytoplasmic peptide,co assembly in the endoplasmic reticulum with the channel forming alpha subunits,modulating the amplitude of K+ currents
UniProtKB/Swiss-Prot Function:
Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7649300, PubMed:11825900). Contributes to the regulation of nerve signaling, and prevents neuronal hyperexcitability (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore (PubMed:7649300, PubMed:11825900). Promotes KCNA4 channel closure (PubMed:7649300, PubMed:11825900). Modulates the functional properties of KCNA5 (By similarity). Enhances KCNB2 channel activity (By similarity). Binds NADPH and has NADPH-dependent aldoketoreductase activity (By similarity). Has broad substrate specificity and can catalyze the reduction of methylglyoxal, 9,10-phenanthrenequinone, prostaglandin J2, 4-nitrobenzaldehyde, 4-nitroacetophenone and 4-oxo-trans-2-nonenal (in vitro) (By similarity).

Enzyme Numbers (IUBMB) for KCNAB2 Gene

Gene Ontology (GO) - Molecular Function for KCNAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004033 aldo-keto reductase (NADP) activity ISS --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0015459 potassium channel regulator activity IDA 7649300
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with KCNAB2: view
genes like me logo Genes that share phenotypes with KCNAB2: view

Human Phenotype Ontology for KCNAB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNAB2 Gene

MGI Knock Outs for KCNAB2:

Animal Model Products

miRNA for KCNAB2 Gene

miRTarBase miRNAs that target KCNAB2

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for KCNAB2 Gene

Localization for KCNAB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNAB2 Gene

Cytoplasm. Membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, axon. Cell junction, synapse, synaptosome. Cytoplasm, cytoskeleton. Note=Recruited to the cytoplasmic side of the cell membrane via its interaction with pore-forming potassium channel alpha subunits. Associates with microtubules when unphosphorylated. {ECO:0000250 UniProtKB:P62483}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNAB2 Gene COMPARTMENTS Subcellular localization image for KCNAB2 gene
Compartment Confidence
cytosol 5
plasma membrane 5
cytoskeleton 3
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KCNAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS --
GO:0005856 cytoskeleton IEA --
GO:0005874 colocalizes_with microtubule ISS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with KCNAB2: view

Pathways & Interactions for KCNAB2 Gene

genes like me logo Genes that share pathways with KCNAB2: view

Pathways by source for KCNAB2 Gene

1 PharmGKB pathway for KCNAB2 Gene
1 Qiagen pathway for KCNAB2 Gene

Gene Ontology (GO) - Biological Process for KCNAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNAB2: view

No data available for SIGNOR curated interactions for KCNAB2 Gene

Drugs & Compounds for KCNAB2 Gene

(4) Drugs for KCNAB2 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker potassium channel-blocking agent, Non-selective KV channel blocker 68
E-4031 dihydrochloride Pharma KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 0
Linopirdine dihydrochloride Pharma KV7 (KCNQ) channel blocker 0
XE 991 dihydrochloride Pharma Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 0

(2) Additional Compounds for KCNAB2 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNAB2 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker 504-24-5
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 113559-13-0
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
genes like me logo Genes that share compounds with KCNAB2: view

Transcripts for KCNAB2 Gene

Unigene Clusters for KCNAB2 Gene

Potassium voltage-gated channel, shaker-related subfamily, beta member 2:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNAB2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - - - - - - - - - -
SP2: - - -
SP3: - - - - - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - - - - - -
SP6: - -
SP7: - - - - - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - -
SP10: -
SP11:
SP12:
SP13:
SP14:

ExUns: 20 ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25a · 25b ^ 26
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:

Relevant External Links for KCNAB2 Gene

GeneLoc Exon Structure for
KCNAB2
ECgene alternative splicing isoforms for
KCNAB2

Expression for KCNAB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNAB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNAB2 Gene

This gene is overexpressed in Brain - Cortex (x5.7), Whole Blood (x5.1), Brain - Frontal Cortex (BA9) (x4.9), and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for KCNAB2 Gene

This gene is overexpressed in Lymph node (16.0), NK cells (10.2), Tlymphocyte (8.5), Frontal cortex (7.2), and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KCNAB2 Gene



Protein tissue co-expression partners for KCNAB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNAB2 Gene:

KCNAB2

SOURCE GeneReport for Unigene cluster for KCNAB2 Gene:

Hs.440497

mRNA Expression by UniProt/SwissProt for KCNAB2 Gene:

Q13303-KCAB2_HUMAN
Tissue specificity: Detected in myelinated nerve fibers in the spinal cord, in the juxtaparanodal region of the nodes of Ranvier, but also in the paranodal region (PubMed:11086297). Detected in hippocampus (at protein level) (PubMed:21357749). Detected in hippocampus (PubMed:7649300).
genes like me logo Genes that share expression patterns with KCNAB2: view

Primer Products

Orthologs for KCNAB2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KCNAB2 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia KCNAB2 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNAB2 34 35
  • 92.93 (n)
chimpanzee
(Pan troglodytes)
Mammalia KCNAB2 34
  • 92.31 (n)
cow
(Bos Taurus)
Mammalia KCNAB2 34 35
  • 92.3 (n)
rat
(Rattus norvegicus)
Mammalia Kcnab2 34
  • 90.48 (n)
mouse
(Mus musculus)
Mammalia Kcnab2 34 16 35
  • 90.27 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNAB2 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNAB2 34 35
  • 85.38 (n)
lizard
(Anolis carolinensis)
Reptilia KCNAB2 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnab2 34
  • 76.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1407 34
zebrafish
(Danio rerio)
Actinopterygii KCNAB2 35
  • 79 (a)
OneToOne
kcnab2 34
  • 76.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hk 36 35
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 25 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.2911 34
corn
(Zea mays)
Liliopsida Zm.16963 34
Species where no ortholog for KCNAB2 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KCNAB2 Gene

ENSEMBL:
Gene Tree for KCNAB2 (if available)
TreeFam:
Gene Tree for KCNAB2 (if available)

Paralogs for KCNAB2 Gene

Paralogs for KCNAB2 Gene

genes like me logo Genes that share paralogs with KCNAB2: view

Variants for KCNAB2 Gene

Sequence variations from dbSNP and Humsavar for KCNAB2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs146277144 Uncertain significance 6,098,509(+) CTTCC(A/G)TTATC reference, missense, utr-variant-3-prime
rs10218823 -- 6,029,418(+) ATTTT(G/T)CTGGT intron-variant
rs10399600 -- 6,020,318(+) AGGGC(G/T)GGCTC intron-variant
rs10442699 -- 6,012,038(+) gtgaa(A/G)gtgga intron-variant
rs1056860 -- 6,100,816(+) GGAGG(A/G)GGTAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KCNAB2 Gene

Variant ID Type Subtype PubMed ID
dgv27n106 CNV duplication 24896259
dgv65n54 CNV loss 21841781
dgv66n54 CNV gain 21841781
dgv67n54 CNV loss 21841781
dgv68n54 CNV gain 21841781
dgv69n54 CNV gain 21841781
dgv70n54 CNV loss 21841781
dgv71n54 CNV gain 21841781
dgv72n54 CNV loss 21841781
dgv73n54 CNV gain+loss 21841781
dgv74n54 CNV gain 21841781
dgv75n54 CNV loss 21841781
esv22772 CNV gain+loss 19812545
esv2470104 CNV deletion 19546169
esv2668412 CNV deletion 23128226
esv2671721 CNV deletion 23128226
esv2738028 CNV deletion 23290073
esv2738139 CNV deletion 23290073
esv2738250 CNV deletion 23290073
esv2738362 CNV deletion 23290073
esv2738473 CNV deletion 23290073
esv2738584 CNV deletion 23290073
esv2738695 CNV deletion 23290073
esv2738806 CNV deletion 23290073
esv2738917 CNV deletion 23290073
esv2739028 CNV deletion 23290073
esv3567536 CNV deletion 23714750
esv7234 CNV loss 19470904
nsv1008071 CNV loss 25217958
nsv1008999 CNV gain 25217958
nsv1122288 CNV deletion 24896259
nsv1126971 CNV deletion 24896259
nsv159264 CNV deletion 16902084
nsv461283 CNV loss 19166990
nsv470689 CNV loss 18288195
nsv511127 CNV loss 21212237
nsv511675 CNV loss 21212237
nsv545173 CNV gain 21841781
nsv545175 CNV loss 21841781
nsv545186 CNV gain+loss 21841781
nsv545196 CNV loss 21841781
nsv545199 CNV loss 21841781
nsv545205 CNV gain 21841781
nsv545210 CNV gain 21841781
nsv545212 CNV loss 21841781
nsv545217 CNV gain 21841781
nsv545222 CNV loss 21841781
nsv545224 CNV loss 21841781
nsv545225 CNV gain 21841781
nsv545226 CNV loss 21841781
nsv545228 CNV loss 21841781
nsv545229 CNV loss 21841781
nsv831314 CNV loss 17160897
nsv953994 CNV deletion 24416366

Variation tolerance for KCNAB2 Gene

Residual Variation Intolerance Score: 22.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNAB2 Gene

Human Gene Mutation Database (HGMD)
KCNAB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNAB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNAB2 Gene

Disorders for KCNAB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KCNAB2 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
chromosome 1p36 deletion syndrome
  • 1p36 deletion syndrome
episodic ataxia/myokymia syndrome
  • episodic ataxia, type 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCNAB2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNAB2
genes like me logo Genes that share disorders with KCNAB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNAB2 Gene

Publications for KCNAB2 Gene

  1. Alternative splicing of the human Shaker K+ channel beta 1 gene and functional expression of the beta 2 gene product. (PMID: 7649300) Mccormack K. … Stuehmer W. (FEBS Lett. 1995) 3 4 22 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Subunit composition and novel localization of K+ channels in spinal cord. (PMID: 11086297) Rasband M.N. … Trimmer J.S. (J. Comp. Neurol. 2001) 3 4 64

Products for KCNAB2 Gene

Sources for KCNAB2 Gene

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