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Aliases for KCNIP2 Gene

Aliases for KCNIP2 Gene

  • Potassium Voltage-Gated Channel Interacting Protein 2 2 3 5
  • Cardiac Voltage-Gated Potassium Channel Modulatory Subunit 3 4
  • A-Type Potassium Channel Modulatory Protein 2 3 4
  • Potassium Channel-Interacting Protein 2 3 4
  • Kv Channel-Interacting Protein 2 2 3
  • KCHIP2 3 4
  • Kv Channel Interacting Protein 2 3

External Ids for KCNIP2 Gene

Previous GeneCards Identifiers for KCNIP2 Gene

  • GC10M102478
  • GC10M102819
  • GC10M103716
  • GC10M103250
  • GC10M103575
  • GC10M097216

Summaries for KCNIP2 Gene

Entrez Gene Summary for KCNIP2 Gene

  • This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNIP2 Gene

KCNIP2 (Potassium Voltage-Gated Channel Interacting Protein 2) is a Protein Coding gene. Diseases associated with KCNIP2 include Spinocerebellar Ataxia Type 19/22 and Brugada Syndrome. Among its related pathways are Cardiac conduction and Antiarrhythmic Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein N-terminus binding. An important paralog of this gene is KCNIP4.

UniProtKB/Swiss-Prot for KCNIP2 Gene

  • Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface. May be required for the expression of I(To) currents in the heart (By similarity).

Tocris Summary for KCNIP2 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 KCNIP2 Gene

Additional gene information for KCNIP2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNIP2 Gene

Genomics for KCNIP2 Gene

GeneHancer (GH) Regulatory Elements for KCNIP2 Gene

Promoters and enhancers for KCNIP2 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
GH10I101835 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.4 +5.3 5272 5.6 ARID4B SIN3A IRF4 ZNF48 ZNF121 GLIS2 ARID2 ZNF207 ZNF143 RUNX3 LOC101927445 KCNIP2 HPS6 LZTS2 NOLC1 SLF2 NPM3 SUFU MRPL43 GC10M101802
GH10I101843 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +0.1 109 1.1 HDGF SMARCA5 CTCF ZNF189 BACH1 TRIM22 SIN3A REST DPF2 ZNF592 KCNIP2 HPS6 LOC101927445 GC10M101802
GH10I101828 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +12.9 12937 4.4 HDGF PKNOX1 CLOCK SMAD1 ARNT SIN3A ZNF2 ZBTB7B ZNF766 ZNF302 PPRC1 LDB1 GBF1 LZTS2 MRPL43 HPS6 NOLC1 SUFU ENSG00000272572 KCNIP2-AS1
GH10I101966 Enhancer 1.1 Ensembl ENCODE dbSUPER 17.4 -125.2 -125164 5.1 PKNOX1 ZNF529 BATF RELA NFATC1 ATF7 ETV6 IKZF2 RUNX3 SRF HPS6 KCNIP2 ARL3 C10orf76 NPM3 C10orf95 ENSG00000222430
GH10I101960 Enhancer 1.1 Ensembl ENCODE dbSUPER 16.8 -117.9 -117870 3 KLF17 FEZF1 SCRT2 PRDM10 ZNF600 SCRT1 OSR2 PRDM6 JUND ZNF629 KCNIP2 HPS6 NPM3 ENSG00000222430 C10orf76
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNIP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNIP2 gene promoter:

Genomic Locations for KCNIP2 Gene

Genomic Locations for KCNIP2 Gene
chr10:101,825,974-101,843,920
(GRCh38/hg38)
Size:
17,947 bases
Orientation:
Minus strand
chr10:103,585,731-103,603,677
(GRCh37/hg19)

Genomic View for KCNIP2 Gene

Genes around KCNIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNIP2 Gene

Proteins for KCNIP2 Gene

  • Protein details for KCNIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NS61-KCIP2_HUMAN
    Recommended name:
    Kv channel-interacting protein 2
    Protein Accession:
    Q9NS61
    Secondary Accessions:
    • A6NJE5
    • A8MQ75
    • Q3YAC6
    • Q3YAC8
    • Q3YAC9
    • Q7Z6F1
    • Q96K86
    • Q96T41
    • Q96T42
    • Q96T43
    • Q96T44
    • Q9H0N4
    • Q9HD10
    • Q9HD11
    • Q9NS60
    • Q9NY10
    • Q9NZI1

    Protein attributes for KCNIP2 Gene

    Size:
    270 amino acids
    Molecular mass:
    30907 Da
    Quaternary structure:
    • Component of heteromultimeric potassium channels. Identified in potassium channel complexes containing KCND1, KCND2, KCND3, KCNIP1, KCNIP2, KCNIP3, KCNIP4, DPP6 and DPP10 (By similarity). The KCND2-KCNIP2 channel complex contains four KCND2 and four KCNIP2 subunits (PubMed:14623880, PubMed:14980201). Interacts with KCND2 (PubMed:10676964, PubMed:14623880, PubMed:14980201). Isoform 1 and isoform 3 interact with KCND3 isoform 1. Probably part of a complex consisting of KCNIP1, KCNIP2 isoform 3 and KCND2. At least isoform 2 and isoform 3 can self-associate to form homodimers and homotetramers. Isoform 3 interacts with KCNIP1 in a calcium-dependent manner.

    Alternative splice isoforms for KCNIP2 Gene

neXtProt entry for KCNIP2 Gene

Post-translational modifications for KCNIP2 Gene

  • Palmitoylated. Palmitoylation enhances association with the plasma membrane.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCNIP2 Gene

Domains & Families for KCNIP2 Gene

Protein Domains for KCNIP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NS61

UniProtKB/Swiss-Prot:

KCIP2_HUMAN :
  • Belongs to the recoverin family.
Family:
  • Belongs to the recoverin family.
genes like me logo Genes that share domains with KCNIP2: view

Function for KCNIP2 Gene

Molecular function for KCNIP2 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface. May be required for the expression of I(To) currents in the heart (By similarity).

Phenotypes From GWAS Catalog for KCNIP2 Gene

Gene Ontology (GO) - Molecular Function for KCNIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005250 contributes_to A-type (transient outward) potassium channel activity TAS 26016905
GO:0005267 potassium channel activity IEA --
GO:0005509 calcium ion binding TAS 11287421
GO:0005515 protein binding IPI 14623880
GO:0015459 potassium channel regulator activity IDA 21493962
genes like me logo Genes that share ontologies with KCNIP2: view
genes like me logo Genes that share phenotypes with KCNIP2: view

Animal Models for KCNIP2 Gene

MGI Knock Outs for KCNIP2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNIP2 Gene

Localization for KCNIP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNIP2 Gene

Isoform 1: Cell membrane; Lipid-anchor. Note=Detected on lipid rafts (By similarity). {ECO:0000250 UniProtKB:Q9JM59}.
Isoform 2: Cell membrane; Lipid-anchor.
Isoform 6: Cell membrane; Lipid-anchor.

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 KCNIP2 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for KCNIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11287421
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex NAS 11287421
GO:0016020 membrane IEA --
GO:0034705 potassium channel complex TAS 26016905
genes like me logo Genes that share ontologies with KCNIP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNIP2 Gene

Pathways & Interactions for KCNIP2 Gene

genes like me logo Genes that share pathways with KCNIP2: view

Pathways by source for KCNIP2 Gene

Gene Ontology (GO) - Biological Process for KCNIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005513 detection of calcium ion TAS 10676964
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 11287421
GO:0006936 muscle contraction NAS 11287421
genes like me logo Genes that share ontologies with KCNIP2: view

No data available for SIGNOR curated interactions for KCNIP2 Gene

Drugs & Compounds for KCNIP2 Gene

(6) Drugs for KCNIP2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved, Investigational Pharma 0
calcium Approved Nutra 0

(1) Additional Compounds for KCNIP2 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for KCNIP2 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 KCNIP2: view

Transcripts for KCNIP2 Gene

Unigene Clusters for KCNIP2 Gene

Kv channel interacting protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNIP2 Gene

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

Relevant External Links for KCNIP2 Gene

GeneLoc Exon Structure for
KCNIP2
ECgene alternative splicing isoforms for
KCNIP2

Expression for KCNIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNIP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNIP2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x7.3), Brain - Nucleus accumbens (basal ganglia) (x6.5), Heart - Left Ventricle (x6.5), Brain - Putamen (basal ganglia) (x6.0), and Brain - Caudate (basal ganglia) (x5.1).

Protein differential expression in normal tissues from HIPED for KCNIP2 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNIP2 Gene



Protein tissue co-expression partners for KCNIP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNIP2 Gene:

KCNIP2

SOURCE GeneReport for Unigene cluster for KCNIP2 Gene:

Hs.97044

mRNA Expression by UniProt/SwissProt for KCNIP2 Gene:

Q9NS61-KCIP2_HUMAN
Tissue specificity: Expressed in brain. Colocalizes with KCND2 in excitatory neurons including cortical and hippocampal CA1 pyramidal cells. Isoform 3 is expressed in heart and in umbilical vein endothelial cells. Not expressed in fetal heart.

Evidence on tissue expression from TISSUES for KCNIP2 Gene

  • Nervous system(4.9)
  • Heart(4.7)
  • Muscle(4.7)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with KCNIP2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNIP2 Gene

Orthologs for KCNIP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KCNIP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNIP2 33 34
  • 99.74 (n)
cow
(Bos Taurus)
Mammalia KCNIP2 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCHIP2 34
  • 96 (a)
OneToOne
KCNIP2 33
  • 94.32 (n)
mouse
(Mus musculus)
Mammalia Kcnip2 33 16 34
  • 92.35 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911951 33
  • 91.46 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNIP2 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNIP2 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNIP2 33 34
  • 83.73 (n)
lizard
(Anolis carolinensis)
Reptilia KCNIP2 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnip2 33
  • 78.31 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100003947 33
  • 67.59 (n)
kcnip2 34
  • 63 (a)
OneToMany
KCNIP2 (1 of 2) 34
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5890 35 34
  • 49 (a)
CG42683 34
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ncs-7 34
  • 35 (a)
ManyToMany
ncs-4 34
  • 27 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRQ1 34
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for KCNIP2 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)
  • 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 KCNIP2 Gene

ENSEMBL:
Gene Tree for KCNIP2 (if available)
TreeFam:
Gene Tree for KCNIP2 (if available)

Paralogs for KCNIP2 Gene

genes like me logo Genes that share paralogs with KCNIP2: view

Variants for KCNIP2 Gene

Sequence variations from dbSNP and Humsavar for KCNIP2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000017419 -- 101,827,192(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000049837 -- 101,826,893(-) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000283419 -- 101,840,513(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000521020 -- 101,835,839(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000616254 -- 101,838,959(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNIP2 Gene

Variant ID Type Subtype PubMed ID
nsv1126267 CNV deletion 24896259
nsv951004 CNV deletion 24416366

Variation tolerance for KCNIP2 Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNIP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNIP2 Gene

Disorders for KCNIP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KCNIP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia type 19/22
  • spinocerebellar ataxia 19 and 22
brugada syndrome
  • bangungut
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KCNIP2

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 KCNIP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNIP2 Gene

Publications for KCNIP2 Gene

  1. Structure, alternative splicing, and expression of the human and mouse KCNIP gene family. (PMID: 16112838) Pruunsild P … Timmusk T (Genomics 2005) 3 4 22 58
  2. Modulation of Kv4.3 current by accessory subunits. (PMID: 12297301) Deschênes I … Tomaselli GF (FEBS letters 2002) 3 4 22 58
  3. Molecular cloning and expression of the novel splice variants of K(+) channel-interacting protein 2. (PMID: 11263977) Ohya S … Imaizumi Y (Biochemical and biophysical research communications 2001) 3 4 22 58
  4. Modulation of A-type potassium channels by a family of calcium sensors. (PMID: 10676964) An WF … Rhodes KJ (Nature 2000) 2 3 4 58
  5. [Atrial myocytes KChIP2 mRNA expression in rheumatic heart disease patients with atrial fibrillation]. (PMID: 19927631) Tan XQ … Zeng XR (Zhonghua xin xue guan bing za zhi 2009) 3 22 58

Products for KCNIP2 Gene

Sources for KCNIP2 Gene

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