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KCNIP3 Gene(Protein Coding)

Potassium Voltage-Gated Channel Interacting Protein 3

GCID:
GC02P095326
GIFtS:
58
Genes Participants
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Aliases for KCNIP3 Gene

Aliases for KCNIP3 Gene

  • Potassium Voltage-Gated Channel Interacting Protein 3 2 3 5
  • Calsenilin, Presenilin-Binding Protein, EF Hand Transcription Factor 2 3
  • A-Type Potassium Channel Modulatory Protein 3 3 4
  • Kv Channel Interacting Protein 3, Calsenilin 2 3
  • Kv Channel-Interacting Protein 3 3 4
  • DRE-Antagonist Modulator 3 4
  • Calsenilin 2 3
  • KCHIP3 3 4
  • DREAM 3 4
  • CSEN 3 4
  • Potassium Channel Interacting Protein 3 3

External Ids for KCNIP3 Gene

Previous HGNC Symbols for KCNIP3 Gene

  • CSEN

Previous GeneCards Identifiers for KCNIP3 Gene

  • GC02P095963
  • GC02P089991

Summaries for KCNIP3 Gene

Entrez Gene Summary for KCNIP3 Gene

  • This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNIP3 Gene

KCNIP3 (Potassium Voltage-Gated Channel Interacting Protein 3) is a Protein Coding gene. Diseases associated with KCNIP3 include Alzheimer Disease. Among its related pathways are Cardiac conduction and Development Ligand-independent activation of ESR1 and ESR2. GO annotations related to this gene include calcium ion binding and transcription corepressor activity. An important paralog of this gene is KCNIP4.

UniProtKB/Swiss-Prot for KCNIP3 Gene

  • Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be involved in nociception (By similarity).

  • Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels, such as KCND2/Kv4.2 and KCND3/Kv4.3. Modulates channel expression at the cell membrane, gating characteristics, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner.

  • May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved in modulation of beta-amyloid formation.

Tocris Summary for KCNIP3 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 KCNIP3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNIP3 Gene

Genomics for KCNIP3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for KCNIP3 Gene

Enhancers for KCNIP3 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
GH02G095314 1.4 FANTOM5 ENCODE dbSUPER 32.8 +19.3 19337 3.4 CTCF KLF1 ZFP64 ZNF140 ZIC2 ZNF2 RAD21 ZNF101 ZNF697 ZFHX2 KCNIP3 LOC344065 PROM2 TRIM43B PIR58224
GH02G095073 1.5 Ensembl ENCODE dbSUPER 23.9 -221.7 -221712 4.4 ARID4B DMAP1 ZNF2 ZNF48 GLIS2 ZNF143 ZNF263 SP3 REST ZNF579 KCNIP3 ENSG00000231062 TEKT4 LOC105373488 MRPS5
GH02G095061 1.4 Ensembl ENCODE dbSUPER 24 -234.5 -234520 2.4 PKNOX1 FOXA2 BMI1 RAD21 YY1 SCRT2 RELB IKZF2 ZNF654 HCFC1 KCNIP3 GPAT2P1 ENSG00000231062 LOC105373488
GH02G095345 1 ENCODE 31.2 +48.9 48920 2.4 ATF1 ZNF48 GLIS2 ZNF207 ZNF143 FOS KLF7 ZNF263 SP3 REST KCNIP3 PROM2 GC02P095355 PIR58224
GH02G095333 0.9 ENCODE 31.3 +37.3 37340 3.2 PKNOX1 INSM2 KLF17 FEZF1 BRCA1 GLIS2 ZNF366 RCOR1 ZNF391 DEK KCNIP3 PIR58224 GC02P095355
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNIP3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the KCNIP3 gene promoter:

Genomic Location for KCNIP3 Gene

Chromosome:
2
Start:
95,297,304 bp from pter
End:
95,386,083 bp from pter
Size:
88,780 bases
Orientation:
Plus strand

Genomic View for KCNIP3 Gene

Genes around KCNIP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNIP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNIP3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KCNIP3 Gene

Proteins for KCNIP3 Gene

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  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KCNIP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2W7-CSEN_HUMAN
    Recommended name:
    Calsenilin
    Protein Accession:
    Q9Y2W7
    Secondary Accessions:
    • H7BY46
    • Q3YAC3
    • Q3YAC4
    • Q53TJ5
    • Q96T40
    • Q9UJ84
    • Q9UJ85

    Protein attributes for KCNIP3 Gene

    Size:
    256 amino acids
    Molecular mass:
    29231 Da
    Quaternary structure:
    • Binds to DNA as a homomultimer. Dimerization is induced by binding to calcium (PubMed:17962406). Interacts with the C-terminus of PSEN1 and PSEN2 and with PSEN2 CTF subunit. Associates with KCN1. Component of heteromultimeric potassium channels. Identified in potassium channel complexes containing KCND1, KCND2, KCND3, KCNIP1, KCNIP2, KCNIP3, KCNIP4, DPP6 and DPP10 (By similarity). Interacts with KCND2 and KCND3.

    Three dimensional structures from OCA and Proteopedia for KCNIP3 Gene

    Alternative splice isoforms for KCNIP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNIP3 Gene

Post-translational modifications for KCNIP3 Gene

Other Protein References for KCNIP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNIP3 Gene

Domains & Families for KCNIP3 Gene

Gene Families for KCNIP3 Gene

HGNC:

Protein Domains for KCNIP3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNIP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2W7

UniProtKB/Swiss-Prot:

CSEN_HUMAN :
  • Belongs to the recoverin family.
Family:
  • Belongs to the recoverin family.
genes like me logo Genes that share domains with KCNIP3: view

Function for KCNIP3 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for KCNIP3 Gene

UniProtKB/Swiss-Prot Function:
Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be involved in nociception (By similarity).
UniProtKB/Swiss-Prot Function:
Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels, such as KCND2/Kv4.2 and KCND3/Kv4.3. Modulates channel expression at the cell membrane, gating characteristics, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner.
UniProtKB/Swiss-Prot Function:
May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved in modulation of beta-amyloid formation.

Gene Ontology (GO) - Molecular Function for KCNIP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding TAS 10078534
GO:0003714 transcription corepressor activity TAS 10078534
GO:0005244 voltage-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with KCNIP3: view
genes like me logo Genes that share phenotypes with KCNIP3: view

Animal Models for KCNIP3 Gene

MGI Knock Outs for KCNIP3:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNIP3

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNIP3 Gene

Localization for KCNIP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNIP3 Gene

Cytoplasm. Cell membrane; Lipid-anchor. Endoplasmic reticulum. Golgi apparatus. Nucleus. Note=Also membrane-bound, associated with the plasma membrane (PubMed:15485870). In the presence of PSEN2 associated with the endoplasmic reticulum and Golgi. The sumoylated form is present only in the nucleus. {ECO:0000269 PubMed:11278424, ECO:0000269 PubMed:15485870, ECO:0000269 PubMed:21070824}.

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 KCNIP3 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
endoplasmic reticulum 4
golgi apparatus 3

Gene Ontology (GO) - Cellular Components for KCNIP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with KCNIP3: view

Pathways & Interactions for KCNIP3 Gene

genes like me logo Genes that share pathways with KCNIP3: view

Pathways by source for KCNIP3 Gene

1 BioSystems pathway for KCNIP3 Gene
1 GeneGo (Thomson Reuters) pathway for KCNIP3 Gene
1 Qiagen pathway for KCNIP3 Gene

Gene Ontology (GO) - Biological Process for KCNIP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 10078534
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with KCNIP3: view

No data available for SIGNOR curated interactions for KCNIP3 Gene

Drugs & Compounds for KCNIP3 Gene

Products:

  1. Drug

(9) Drugs for KCNIP3 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved Pharma 0
4-Aminopyridine Approved Pharma Pore Blocker potassium channel-blocking agent, Non-selective KV channel blocker 69
calcium Nutra 0
Magnesium Nutra 0
E-4031 dihydrochloride Pharma KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 0

(3) Additional Compounds for KCNIP3 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNIP3 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 KCNIP3: view

Transcripts for KCNIP3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for KCNIP3 Gene

(2) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(101) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNIP3 Gene

Kv channel interacting protein 3, calsenilin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNIP3 Gene

No ASD Table

Relevant External Links for KCNIP3 Gene

GeneLoc Exon Structure for
KCNIP3
ECgene alternative splicing isoforms for
KCNIP3

Expression for KCNIP3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNIP3 Gene

mRNA expression in normal human tissues for KCNIP3 Gene
mRNA expression by GTEx for KCNIP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNIP3 Gene

This gene is overexpressed in Brain - Cortex (x5.1).

NURSA nuclear receptor signaling pathways regulating expression of KCNIP3 Gene:

KCNIP3

SOURCE GeneReport for Unigene cluster for KCNIP3 Gene:

Hs.437376

mRNA Expression by UniProt/SwissProt for KCNIP3 Gene:

Q9Y2W7-CSEN_HUMAN
Tissue specificity: Highly expressed in brain. Widely expressed at lower levels. Expression levels are elevated in brain cortex regions affected by Alzheimer disease.

Evidence on tissue expression from TISSUES for KCNIP3 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with KCNIP3: view

Primer Products

No data available for 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 KCNIP3 Gene

Orthologs for KCNIP3 Gene

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

Orthologs for KCNIP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KCNIP3 34 35
  • 99.48 (n)
dog
(Canis familiaris)
 Mammalia KCNIP3 34 35
  • 91.02 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNIP3 35
  • 89 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Kcnip3 34
  • 88.02 (n)
mouse
(Mus musculus)
 Mammalia Kcnip3 34 16 35
  • 87.63 (n)
cow
(Bos Taurus)
 Mammalia KCNIP3 34
  • 87.39 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNIP3 35
  • 76 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100494097 34
  • 76.88 (n)
zebrafish
(Danio rerio)
 Actinopterygii kcnip3a 34 35
  • 74.21 (n)
kcnip3b 35
  • 74 (a)
 OneToMany
zgc73306 34
fruit fly
(Drosophila melanogaster)
 Insecta CG5890 35
  • 45 (a)
 ManyToMany
CG42683 35
  • 16 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea ncs-7 35
  • 35 (a)
 ManyToMany
ncs-4 35
  • 30 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes FRQ1 35
  • 42 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 42 (a)
 OneToMany
Species where no ortholog for KCNIP3 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 KCNIP3 Gene

ENSEMBL:
Gene Tree for KCNIP3 (if available)
TreeFam:
Gene Tree for KCNIP3 (if available)

Paralogs for KCNIP3 Gene

Paralogs for KCNIP3 Gene

(15) SIMAP similar genes for KCNIP3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNIP3: view

Variants for KCNIP3 Gene

Sequence variations from dbSNP and Humsavar for KCNIP3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_035463 A breast cancer sample
VAR_035464 A breast cancer sample
rs1000030898 -- 95,331,961(+) GCGTC(G/T)GCATG intron-variant
rs1000043347 -- 95,346,492(+) CGGGG(A/G)GGCCG intron-variant, upstream-variant-2KB
rs1000188822 -- 95,382,782(+) TGGGA(A/G)AGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNIP3 Gene

Variant ID Type Subtype PubMed ID
dgv1972n106 CNV deletion 24896259
esv2720398 CNV deletion 23290073
esv2759076 CNV loss 17122850
esv3559816 CNV deletion 23714750
esv3591652 OTHER inversion 21293372
esv3591667 CNV loss 21293372
nsv1128801 CNV duplication 24896259
nsv1134892 CNV deletion 24896259
nsv1160825 CNV duplication 26073780
nsv528011 CNV loss 19592680
nsv582496 CNV loss 21841781
nsv829578 CNV gain 20364138
nsv829579 CNV gain 20364138
nsv953478 CNV deletion 24416366
nsv998014 CNV gain 25217958

Variation tolerance for KCNIP3 Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNIP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNIP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNIP3 Gene

Disorders for KCNIP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNIP3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCNIP3

Genetic Association Database (GAD)
KCNIP3
Human Genome Epidemiology (HuGE) Navigator
KCNIP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNIP3
genes like me logo Genes that share disorders with KCNIP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNIP3 Gene

Publications for KCNIP3 Gene

  1. Solution structure and calcium-binding properties of EF-hands 3 and 4 of calsenilin. (PMID: 17962406) Yu L. … Olejniczak E.T. (Protein Sci. 2007) 3 4 22 64
  2. Structure, alternative splicing, and expression of the human and mouse KCNIP gene family. (PMID: 16112838) Pruunsild P. … Timmusk T. (Genomics 2005) 3 4 22 64
  3. Induction of pro-apoptotic calsenilin/DREAM/KChIP3 in Alzheimer's disease and cultured neurons after amyloid-beta exposure. (PMID: 14720210) Jo D.G. … Jung Y.K. (J. Neurochem. 2004) 3 4 22 64
  4. Phosphorylation of calsenilin at Ser63 regulates its cleavage by caspase-3. (PMID: 12837631) Choi E.K. … Wasco W. (Mol. Cell. Neurosci. 2003) 3 4 22 64
  5. Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2. (PMID: 11278424) Choi E.K. … Wasco W. (J. Biol. Chem. 2001) 3 4 22 64

Products for KCNIP3 Gene

Sources for KCNIP3 Gene

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