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Aliases for KCNIP3 Gene

Aliases for KCNIP3 Gene

  • Kv Channel Interacting Protein 3, Calsenilin 2 3
  • Calsenilin, Presenilin-Binding Protein, EF Hand Transcription Factor 2 3
  • A-Type Potassium Channel Modulatory Protein 3 3 4
  • Kv Channel-Interacting Protein 3 3 4
  • DRE-Antagonist Modulator 3 4
  • 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 (Kv Channel Interacting Protein 3, Calsenilin) is a Protein Coding gene. Diseases associated with KCNIP3 include alzheimer disease. Among its related pathways are TSH signaling pathway and IL-3 Signaling Pathway. GO annotations related to this gene include calcium ion binding and transcription corepressor activity. An important paralog of this gene is HPCA.

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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNIP3 Gene

Genomics for KCNIP3 Gene

Regulatory Elements for KCNIP3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNIP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNIP3 Gene

Proteins for KCNIP3 Gene

  • 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

Proteomics data for KCNIP3 Gene at MOPED

Post-translational modifications for KCNIP3 Gene

Other Protein References for KCNIP3 Gene

Antibody Products

No data available for DME Specific Peptides for KCNIP3 Gene

Domains & Families for KCNIP3 Gene

Protein Domains for KCNIP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2W7

UniProtKB/Swiss-Prot:

CSEN_HUMAN :
  • Contains 4 EF-hand domains.
  • Belongs to the recoverin family.
Domain:
  • Contains 4 EF-hand domains.
Family:
  • Belongs to the recoverin family.
genes like me logo Genes that share domains with KCNIP3: view

Function for KCNIP3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNIP3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0000250, ECO:0000269 PubMed:15485870}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNIP3 Gene COMPARTMENTS Subcellular localization image for KCNIP3 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 4
plasma membrane 4
endoplasmic reticulum 3

Gene Ontology (GO) - Cellular Components for KCNIP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol ISS --
GO:0008076 voltage-gated potassium channel complex 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 Qiagen pathway for KCNIP3 Gene
2 BioSystems pathways for KCNIP3 Gene
1 GeneGo (Thomson Reuters) 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:0006357 regulation of transcription from RNA polymerase II promoter TAS 10078534
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction TAS 10900016
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

(6) Drugs for KCNIP3 Gene - From: HMDB, Tocris, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Experimental Pharma 0
Calcium Nutra 0
Magnesium Nutra 0
Flupirtine maleate Pharma KV7 channel activator 0
serine Nutra 420

(5) Additional Compounds for KCNIP3 Gene - From: Tocris and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Kaliotoxin
145199-73-1
L-364,373
103342-82-1
PD 118057
313674-97-4
aspartate
Oligonucleotide
genes like me logo Genes that share compounds with KCNIP3: view

Transcripts for KCNIP3 Gene

Unigene Clusters for KCNIP3 Gene

Kv channel interacting protein 3, calsenilin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNIP3

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

mRNA expression in normal human tissues 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).

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.
genes like me logo Genes that share expression patterns with KCNIP3: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia KCNIP3 35
  • 87.39 (n)
  • 89.1 (a)
dog
(Canis familiaris)
Mammalia KCNIP3 35
  • 91.02 (n)
  • 94.14 (a)
KCNIP3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnip3 35
  • 87.63 (n)
  • 91.8 (a)
Kcnip3 16
Kcnip3 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNIP3 35
  • 99.48 (n)
  • 99.61 (a)
KCNIP3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnip3 35
  • 88.02 (n)
  • 92.97 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNIP3 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNIP3 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494097 35
  • 76.88 (n)
  • 85.08 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnip3a 35
  • 74.21 (n)
  • 79.37 (a)
zgc73306 35
kcnip3a 36
  • 86 (a)
OneToMany
kcnip3b 36
  • 74 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42683 36
  • 16 (a)
ManyToMany
CG5890 36
  • 45 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ncs-4 36
  • 30 (a)
ManyToMany
ncs-7 36
  • 35 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRQ1 36
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for KCNIP3:
  • 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

(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 MAF
rs15981 -- 95,385,858(+) CAGGA(G/T)AGCAT utr-variant-3-prime
rs365712 -- 95,368,615(-) GACTG(A/C/G/T)GGTAT intron-variant
rs869185 -- 95,358,408(+) AGCCC(A/T)GCTTG intron-variant
rs869186 -- 95,358,592(+) ATTCT(A/G)TTGTA intron-variant
rs870393 -- 95,316,345(-) GCTGC(A/G)CCTCG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv528011 CNV Loss 19592680
dgv1228e1 CNV Complex 17122850
nsv829578 CNV Gain 20364138
nsv829579 CNV Gain 20364138
esv2720398 CNV Deletion 23290073

Variation tolerance for KCNIP3 Gene

Residual Variation Intolerance Score: 61.98% 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

HapMap Linkage Disequilibrium report
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

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. Ancillary subunits associated with voltage-dependent K+ channels. (PMID: 20393197) Pongs O. … Schwarz J.R. (Physiol. Rev. 2010) 23 67
  2. Proteomic analysis of normal human nasal mucosa: establishment of a two-dimensional electrophoresis reference map. (PMID: 19167376) Lee J.Y. … Lee S.H. (Clin. Biochem. 2009) 23 67
  3. Ca2+-sensitive transcriptional regulation: direct DNA interaction by DREAM. (PMID: 19273168) Sours-Brothers S. … Koulen P. (Front Biosci (Landmark Ed) 2009) 23 67
  4. Kv4.2 is a locus for PKC and ERK/MAPK cross-talk. (PMID: 18795890) Schrader L.A. … Anderson A.E. (Biochem. J. 2009) 23 67
  5. Characterization of subcellular localization and Ca2+ modulation of calsenilin/DREAM/KChIP3. (PMID: 18628663) Woo H.N. … Jo D.G. (Neuroreport 2008) 23 67

Products for KCNIP3 Gene

Sources for KCNIP3 Gene

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