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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCNIP3 Gene

protein-coding GIFtS: 61
GCID: GC02P095963

Kv channel interacting protein 3, calsenilin

(Previous names: calsenilin, presenilin-binding protein, EF hand transcription...)
(Previous symbol: CSEN)

Explore 9 diseases affiliated with
KCNIP3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Kv Channel Interacting Protein 3, Calsenilin¹ ²		Kv Channel-Interacting Protein 3² ³
CSEN¹ ² ³ ⁵		A-Type Potassium Channel Modulatory Protein 3² ³
DREAM¹ ² ³ ⁵		DRE-Antagonist Modulator² ³
KCHIP3¹ ² ³ ⁵		Potassium Channel Interacting Protein 3²
Calsenilin¹		KChIP3³
Calsenilin, Presenilin-Binding Protein, EF Hand Transcription Factor¹ ²

External Ids:	HGNC: 15523¹	Entrez Gene: 30818²	Ensembl: ENSG00000115041⁷	OMIM: 604662⁵	UniProtKB: Q9Y2W7³

Export aliases for KCNIP3 gene to outside databases

Previous GC identifers: GC02P095326 GC02P089991

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNIP3:

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)

UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7

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)

Function: Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels.

Probably modulates channels 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 probably KCND3 trafficking to the cell surface

Function: May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved

in modulation of beta-amyloid formation

summary for KCNIP3:

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 pore-forming alpha-subunits

contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed

within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNIP3 (Calsenilin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022171.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KCNIP3 gene promoter:
E2F-4 E2F-3a E2F-5 CUTL1 E2F-2 E47 E2F E2F-1 Hand1 LyF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCNIP3 promoter sequence

Search SABiosciences Chromatin IP Primers for KCNIP3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNIP3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q21.1 Ensembl cytogenetic band: 2q11.1 HGNC cytogenetic band: 2q21.1

KCNIP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNIP3 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P095963: view genomic region (about GC identifiers)

Start:	95,963,052 bp from pter	End:	96,051,825 bp from pter
Size:	88,774 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7 (See protein sequence)

Recommended Name: Calsenilin

Size: 256 amino acids; 29231 Da

Subunit: Binds to DNA as a homomultimer. Dimerization is induced by binding to calcium. Component of heteromultimeric

potassium channels. Interacts with KCND2 and KCND3 (By similarity). Interacts with the C-terminus of PSEN1 and PSEN2

and with PSEN2 CTF subunit. Associates with KCN1

Subcellular location: Cytoplasm. Cell membrane; Lipid-anchor (By similarity). Endoplasmic reticulum. Golgi apparatus.

Nucleus. Note=Also membrane-bound, associated with the plasma membrane (By similarity). In the presence of PSEN2

associated with the endoplasmic reticulum and Golgi. The sumoylated form is present only in the nucleus

1 PDB 3D structure from and Proteopedia for KCNIP3:

2E6W (3D)

Secondary accessions: H7BY46 Q3YAC3 Q3YAC4 Q53TJ5 Q96T40 Q9UJ84 Q9UJ85

Alternative splicing: 3 isoforms: Q9Y2W7-1 Q9Y2W7-2 Q9Y2W7-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KCNIP3: NX_Q9Y2W7

Post-translational modifications:

Palmitoylated. Palmitoylation enhances association with the plasma membrane (By similarity)¹

Proteolytically cleaved by caspase-3¹

Phosphorylation at Ser-63 inhibits cleavage by CASP3¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y2W7

KCNIP3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001030086.1 NP_038462.1

ENSEMBL proteins:

ENSP00000295225 ENSP00000417499 ENSP00000354261

Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for KCNIP3
	Uscn Proteins for KCNIP3

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

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	IEA	--
GO:0005886	plasma membrane	IEA	--

KCNIP3 for ontologies About GeneDecksing

KCNIP3 Antibody Products:

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	Uscn ELISAs and CLIAs for KCNIP3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KCNIP3 for domains About GeneDecksing

4 InterPro domains/families:

IPR001125 Recoverin

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_Ca-bd

IPR018247 EF_Hand_1_Ca_BS

Graphical View of Domain Structure for InterPro Entry Q9Y2W7

ProtoNet protein and cluster: Q9Y2W7

1 Blocks protein family: IPB001125 Recoverin family signature

UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7

Similarity: Belongs to the recoverin family

Similarity: Contains 4 EF-hand domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7

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)

Function: Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels.

Probably modulates channels 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 probably KCND3 trafficking to the cell surface

Function: May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved

in modulation of beta-amyloid formation

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCNIP3
		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNIP3 (see all 34):
		hsa-miR-3194-5p hsa-miR-146a hsa-miR-218 hsa-miR-10b* hsa-miR-4326 hsa-miR-2113 hsa-miR-1237 hsa-miR-139-3p

		SwitchGear 3'UTR luciferase reporter plasmid: KCNIP3 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNIP3

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003714	transcription corepressor activity	TAS	10078534
GO:0005244	voltage-gated ion channel activity	IEA	--
GO:0005267	potassium channel activity	IEA	--
GO:0005509	calcium ion binding	IEA	--

KCNIP3 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for KCNIP3:

Decreased TP53 protein express

Decreased influenza A/WSN/33 r

Decreased p24 protein expressi

Animal Models:
Mouse knock-outs for KCNIP3: Kcnip3^tm1Pngr Kcnip3^tm1Lex
4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Kcnip3):

behavior/neurological

cellular

integument

nervous system

KCNIP3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

TSH signaling pathway

TSH signaling pathway

1.00

IL-3 Signaling Pathway

IL-3 Signaling Pathway

1.00

Transcription CREB pathway

Transcription_CREB pathway

0.93

Pathway sources
See GeneCards unified pathways
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for KCNIP3

Transcription CREB pathway

2 BioSystems Pathways for KCNIP3

	TSH signaling pathway
	IL-3 Signaling Pathway

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KCNIP3

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/15 Interacting proteins for KCNIP3 (Q9Y2W7^{2, 3} ENSP00000295225⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CD177	Q8N6Q3²^,³, ENSP00000388794⁴	MINT-68147 I2D: score=5 STRING: ENSP00000388794
CREM	Q03060³, ENSP00000265372⁴	I2D: score=2 STRING: ENSP00000265372
PSEN1	P49768³, ENSP00000326366⁴	I2D: score=2 STRING: ENSP00000326366
CASP3	P42574³, ENSP00000311032⁴	I2D: score=1 STRING: ENSP00000311032
CRK	P46108³, ENSP00000300574⁴	I2D: score=1 STRING: ENSP00000300574

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	10078534
GO:0006886	intracellular protein transport	IEA	--
GO:0006915	apoptotic process	IEA	--

KCNIP3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KCNIP3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for KCNIP3 available from Tocris Bioscience About this table

Compound	Action	CAS #
AM 92016 hydrochloride	KV channel blocker	[178894-81-0]
KN-93	CaM kinase II inhibitor. Also K+ channel blocker (KV)	[139298-40-1]
4-Aminopyridine	Non-selective KV channel blocker	[504-24-5]

3 HMDB Compounds for KCNIP3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Potassium	K+ (see all 16)	7440-09-7	--

6 Novoseek chemical compound relationships for KCNIP3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
potassium	48.4	6	17102134 (2), 12667101 (1), 15763173 (1), 17962406 (1) (see all 5)
calcium	45.4	41	10900016 (4), 15086516 (4), 17962406 (2), 18393943 (2) (see all 14)
aspartate	23	1	18795890 (1)
threonine	14.1	1	12837631 (1)
oligonucleotide	6.09	1	12409095 (1)
serine	0	1	12837631 (1)

Search CenterWatch for drugs/clinical trials and news about KCNIP3 / CSEN

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KCNIP3 gene (2 alternative transcripts):

NM_001034914.1 NM_013434.4

Unigene Cluster for KCNIP3:

Kv channel interacting protein 3, calsenilin

Hs.437376 [show with all ESTs]

Unigene Representative Sequence: AB209076

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000295225(uc002sup.3 uc002suq.3) ENST00000486055 ENST00000475491(uc002suo.1)

ENST00000461336 ENST00000377181 ENST00000468529 ENST00000360990

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		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNIP3 (see all 34):
		hsa-miR-3194-5p hsa-miR-146a hsa-miR-218 hsa-miR-10b* hsa-miR-4326 hsa-miR-2113 hsa-miR-1237 hsa-miR-139-3p

		SwitchGear 3'UTR luciferase reporter plasmid: KCNIP3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AB209076.1 AF120102.1 AF199599.1 AF367022.1 AK025847.1 AK026052.1 AK095539.1 AK315437.1

BC012850.1 BC019877.2 BT020075.1 DQ148485.1 DQ148486.1

9 DOTS entries:

DT.445196 DT.434125 DT.97820366 DT.120985719 DT.120985703 DT.120985702 DT.75101966 DT.97836794

DT.86840430

24/101 AceView cDNA sequences (see all 101):

BF374876 AA861334 AK095539 AI699155 AI365501 BU689479 AL540923 AK025847

AF120102 AA349363 AA349364 BE222787 AW450942 BX279924 NM_013434 AK026052

AW298517 AF199599 T87627 AL039635 BC012850 AL536227 AI962742 AI523747

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KCNIP3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

KCNIP3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Type4 Off Cone Bipolar Cells

Bipolar, Retina

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)

Bone

HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See KCNIP3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNIP3

SOURCE GeneReport for Unigene cluster: Hs.437376

UniProtKB/Swiss-Prot: CSEN_HUMAN, Q9Y2W7

Tissue specificity: Highly expressed in brain. Widely expressed at lower levels. Expression levels are elevated in

brain cortex regions affected by Alzheimer disease

SABiosciences Custom PCR Arrays for KCNIP3

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KCNIP3 gene from 3/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
zebrafish (Danio rerio)	Actinopterygii	zgc73306²	hypothetical protein MGC73306	83.25(n)		393755 BC059629.1
fruit fly (Drosophila melanogaster)	Insecta	CG5890⁶ CG42683⁶	--	44(a) 14(a)	possible ortholog 1 ↔ many	3R(21692822-21695514) X(11113464-11187732)
worm (Caenorhabditis elegans)	Secernentea	C16H3.1⁶ F21A10.1⁶	--	32(a) 29(a)	many ↔ many many ↔ many	X(17617751-17619382) X(10177178-10180599)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KCNIP3 gene

HPCA² KCNIP4² GUCA1A² KCNIP1² RCVRN² HPCAL1² GUCA1B² NCALD²

KCNIP2² HPCAL4² NCS1² VSNL1² GUCA1C²

16 SIMAP similar genes for KCNIP3 using alignment to 1 protein entry: CSEN_HUMAN:

KCNIP1 KCNIP4 KCNIP2 HPCA NCALD DKFZp781K1922

HPCAL1 HPCAL4 NCS1 VSNL1 RCV1 RCVRN

GUCA1A GUCA1B GUCA1C PPP3R1

KCNIP3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12471974^1,2	C,F,H	--	90037835(+)	`GTTCAG/CCACTT`	1	--	us2k¹		1		NA	4
rs56025993^1,2	C,	--	95961204(+)	`TGCTCA/GATGCG`	1	--	us2k¹		2		WA	120
rs143795171^1,2		--	95961416(+)	`CAAAAA/GTTAGC`	1	--	us2k¹		0	--	--	--	--
rs3755526^1,2	C,F,	--	95961417(-)	`GGCTAA/CTTTTT`	1	--	us2k¹		8		NA WA CSA EA	367
rs192643029^1,2		--	95961423(+)	`TAGCCA/GTGCAT`	1	--	us2k¹		0	--	--	--	--
rs3076104^1,2	C	--	95961567(+)	`aaaaa-/AAGCAGA`	1	--	us2k¹		1		NA	2
rs146879724^1,2		--	95961754(+)	`GAAGTC/TGCACA`	1	--	us2k¹		0	--	--	--	--
rs184220259^1,2		--	95961964(+)	`GCTTCA/GTCTCC`	1	--	us2k¹		0	--	--	--	--
rs139737756^1,2		--	95962029(+)	`CAAAGA/GTTTCA`	1	--	us2k¹		0	--	--	--	--
rs143184681^1,2		--	95962066(+)	`TGGGGA/GCCAAG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KCNIP3 (95963052 - 96051825 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KCNIP3
2 CNVs: 89822 3377

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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KCNIP3 for disorders           About GeneDecksing

OMIM gene information: 604662    OMIM disorders: --

9 diseases for KCNIP3:    About MalaCards

neuronitis alzheimer's disease choriocarcinoma cervical cancer

seizures cervicitis neuroblastoma thyroiditis

leukemia

1 Novoseek disease relationship for KCNIP3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease	29.9	13	15770150 (6), 11072133 (2), 14720210 (2)

Genetic Association Database (GAD): KCNIP3
Human Genome Epidemiology (HuGE) Navigator: KCNIP3 (2 documents)

Export disorders for KCNIP3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for KCNIP3 gene, integrated from 9 sources (see all 71):
(articles sorted by number of sources associating them with KCNIP3)

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DREAM is a Ca2+-regulated transcriptional repressor. (PubMed id 10078534)^{1, 2, 3} Carrion A.M....Naranjo J.R. (1999)
Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment. (PubMed id 9771752)^{1, 2, 3} Buxbaum J.D.... Wasco W. (1998)
Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2. (PubMed id 11278424)^{1, 2, 9} Choi E.K.... Wasco W. (2001)
Phosphorylation of calsenilin at Ser63 regulates its cleavage by caspase-3. (PubMed id 12837631)^{1, 2, 9} Choi E.K....Wasco W. (2003)
Induction of pro-apoptotic calsenilin/DREAM/KChIP3 in Alzheimer's disease and cultured neurons after amyloid-beta exposure. (PubMed id 14720210)^{1, 2, 9} Jo D.G....Jung Y.K. (2004)
Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease. (PubMed id 11072133)^{1, 4, 9} Buxbaum J.D....Blacker D. (2000)
Solution structure and calcium-binding properties of EF-hands 3 and 4 of calsenilin. (PubMed id 17962406)^{1, 2, 9} Yu L.... Olejniczak E.T. (2007)
Structure, alternative splicing, and expression of the human and mouse KCNIP gene family. (PubMed id 16112838)^{1, 2, 9} Pruunsild P. and Timmusk T. (2005)
Sumoylation regulates nuclear localization of repress or DREAM. (PubMed id 21070824)^{1, 2} Palczewska M....Naranjo J.R. (2011)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 30818	HGNC: 15523	AceView: CSEN	Ensembl:ENSG00000115041	euGenes: HUgn30818
ECgene: KCNIP3	H-InvDB: KCNIP3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KCNIP3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KCNIP3 gene
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Patent Information for KCNIP3 gene:
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GeneCards and IP:
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KCNIP3 Gene

Kv channel interacting protein 3, calsenilin

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KCNIP3 Gene

Kv channel interacting protein 3, calsenilin

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