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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 neurona... See more...
Aliases for KCNIP3 Gene
Aliases for KCNIP3 Gene
External Ids for KCNIP3 Gene
- HGNC: 15523
- Entrez Gene: 30818
- Ensembl: ENSG00000115041
- OMIM: 604662
- UniProtKB: Q9Y2W7
Previous HGNC Symbols for KCNIP3 Gene
- CSEN
Previous GeneCards Identifiers for KCNIP3 Gene
- GC02P095963
- GC02P089991
Summaries 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 and Niemann-Pick Disease, Type C2. Among its related pathways are Development Ligand-independent activation of ESR1 and ESR2 and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include calcium ion binding and transcription corepressor activity. An important paralog of this gene is KCNIP2.
UniProtKB/Swiss-Prot Summary 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 amyloid-beta formation.
-
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.
Additional gene information for KCNIP3 Gene
- HGNC(15523)
- Entrez Gene(30818)
- Ensembl(ENSG00000115041)
- OMIM(604662)
- UniProtKB(Q9Y2W7)
- Open Targets Platform(ENSG00000115041)
- Search for KCNIP3 at DataMed
- Search for KCNIP3 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNIP3 Gene
Genomics for KCNIP3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KCNIP3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around KCNIP3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNIP3
- Top Transcription factor binding sites by QIAGEN in the KCNIP3 gene promoter:
-
- CUTL1
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- E47
- Hand1
- LyF-1
Genomic Locations for KCNIP3 Gene
Genomic Locations for KCNIP3 Gene
- chr2:95,297,325-95,386,077
- (GRCh38/hg38)
- Size:
- 88,753 bases
- Orientation:
- Plus strand
- chr2:95,963,052-96,051,825
- (GRCh37/hg19)
- Size:
- 88,774 bases
- Orientation:
- Plus strand
Genomic View for KCNIP3 Gene
Genes around KCNIP3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q11.1 by HGNC
- 2q11.1 by Entrez Gene
- 2q11.1 by Ensembl
KCNIP3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Post-translational modifications for KCNIP3 Gene
- Palmitoylated. Palmitoylation enhances association with the plasma membrane (By similarity).
- Proteolytically cleaved by caspase-3.
- Phosphorylation at Ser-63 inhibits cleavage by CASP3.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for KCNIP3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences KCNIP3 / Dream / Calsenilin Antibody
- HUABIO Anti-CSEN Antibody
-
Custom Antibody ServicesOriGene Antibodies for KCNIP3
- Novus Biologicals Antibodies for KCNIP3
- Invitrogen Antibodies for KCNIP3 (AFLGC-Kcnip3)
-
Santa Cruz Biotechnology (SCBT) Antibodies for KCNIP3
- Sino Biological Antibodies for KCNIP3
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for KCNIP3
- Origene Custom Protein Services for KCNIP3
- Sino Biological Recombinant Proteins for KCNIP3
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for KCNIP3
- antibodies-online: Show 13 available KCNIP3 Proteins ranked by validation data
- Compare Top KCNIP3 Proteins
-
Quality Products:
-
Signalway Proteins for KCNIP3
-
Abcam proteins for KCNIP3
Assay Products
- antibodies-online: Show 10 available KCNIP3 Elisa Kits ranked by validation data
- Compare Top KCNIP3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for KCNIP3 Gene
Domains & Families for KCNIP3 Gene
Gene Families for KCNIP3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transporters
Protein Domains for KCNIP3 Gene
- InterPro:
- Blocks:
-
- Recoverin family signature
- ProtoNet:
Suggested Antigen Peptide Sequences for KCNIP3 Gene
- GenScript: Design optimal peptide antigens:
-
- Kv channel-interacting protein 3 (CSEN_HUMAN)
- cDNA, FLJ96493, Homo sapiens calsenilin, presenilin binding protein, EF handtranscription factor (CSEN), mRNA (Q3YAC4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y2W7- Family:
-
- Belongs to the recoverin family.
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 amyloid-beta formation.
Phenotypes From GWAS Catalog for KCNIP3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
| GO:0003677 | DNA binding | TAS | 10078534 |
| GO:0003714 | transcription corepressor activity | TAS | 10078534 |
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
Phenotypes for KCNIP3 Gene
- MGI mutant phenotypes for KCNIP3:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for KCNIP3:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased influenza A/WSN/33 replication
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased p24 protein expression
- Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
Animal Models for KCNIP3 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for KCNIP3
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KCNIP3 - Select products 50% OFF >
- * KCNIP3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KCNIP3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNIP3
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNIP3
miRNA for KCNIP3 Gene
- miRTarBase miRNAs that target KCNIP3
-
- mmu-miR-297b-5p (MIRT589732)
- mmu-miR-297a-5p (MIRT589733)
- mmu-miR-297c-5p (MIRT589734)
- mmu-miR-654-3p (MIRT589735)
- mmu-miR-466d-5p (MIRT589736)
- mmu-miR-466i-5p (MIRT589737)
- mmu-miR-466k (MIRT589738)
- mmu-miR-466l-5p (MIRT589739)
- hsa-miR-574-5p (MIRT608426)
- hsa-miR-4766-3p (MIRT608427)
- hsa-miR-6867-5p (MIRT608428)
- hsa-miR-4687-3p (MIRT608429)
- hsa-miR-7974 (MIRT608430)
- hsa-miR-889-5p (MIRT608431)
- hsa-miR-3908 (MIRT608432)
- hsa-miR-4703-5p (MIRT608433)
- hsa-miR-3942-5p (MIRT608434)
- hsa-miR-129-5p (MIRT667775)
- hsa-miR-3680-3p (MIRT667776)
- hsa-miR-557 (MIRT667777)
- hsa-miR-507 (MIRT667778)
- hsa-miR-450b-5p (MIRT667779)
- hsa-miR-26b-3p (MIRT667780)
- hsa-miR-1237-3p (MIRT761487)
- hsa-miR-1248 (MIRT761597)
- hsa-miR-1262 (MIRT761704)
- hsa-miR-3937 (MIRT767847)
- hsa-miR-4314 (MIRT768572)
- hsa-miR-4316 (MIRT768586)
- hsa-miR-4701-3p (MIRT771314)
- hsa-miR-4710 (MIRT771389)
- hsa-miR-5008-5p (MIRT772960)
- hsa-miR-5699-5p (MIRT775194)
- hsa-miR-6081 (MIRT775470)
- hsa-miR-6089 (MIRT775740)
- hsa-miR-6736-5p (MIRT778065)
- hsa-miR-6776-5p (MIRT778750)
- hsa-miR-6861-5p (MIRT780591)
- hsa-miR-6868-3p (MIRT780667)
- hsa-miR-874-5p (MIRT782514)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNIP3
- Browse OriGene Inhibitory RNA Products For KCNIP3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNIP3
Clone Products
- Applied Biological Materials (abm): Clones for KCNIP3 - Select products 50% OFF >
- * KCNIP3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG203287
- MG219335
- MR203287
- MR203287L3
- MR203287L4
- MR219335
- MR219335L3
- MR219335L4
- MR228996
- RC203957
- RC203957L1
- RC203957L2
- RC203957L3
- RC203957L4
- RC224492
- RC224492L3
- RC224492L4
- RG203957
- RG224492
- RR210796
- RR210796L3
- RR210796L4
- MR203287L3V
- MR203287L4V
- MR219335L3V
- MR219335L4V
- RC203957L1V
- RC203957L2V
- RC203957L3V
- RC203957L4V
- RC224492L3V
- RC224492L4V
- RR210796L3V
- RR210796L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KCNIP3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNIP3
Cell Line Products
-
Horizon Cell Lines for KCNIP3
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}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| nucleus | 4 |
| endoplasmic reticulum | 4 |
| golgi apparatus | 4 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
- Vesicles (2)
| 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 | -- |
Pathways & Interactions for KCNIP3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction | ||
| 2 | nNOS Signaling in Skeletal Muscle |
DREAM Repression and Dynorphin Expression
.44
|
|
| 3 | Development Ligand-independent activation of ESR1 and ESR2 |
Transcription CREB pathway
.34
|
|
| 4 | Human Thyroid Stimulating Hormone (TSH) signaling pathway | ||
Pathways by source for KCNIP3 Gene
1 BioSystems pathway for KCNIP3 Gene
3 Reactome pathways for KCNIP3 Gene
1 GeneGo (Thomson Reuters) pathway for KCNIP3 Gene
- Transcription CREB pathway
1 Qiagen pathway for KCNIP3 Gene
- DREAM Repression and Dynorphin Expression
Interacting Proteins for KCNIP3 Gene
Selected Interacting proteins:
Q9Y2W7-CSEN_HUMAN
ENSP00000295225
for KCNIP3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for KCNIP3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 10078534 |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | IEA | -- |
| GO:0006886 | intracellular protein transport | IEA | -- |
Drugs & Compounds for KCNIP3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Potassium | Approved, Experimental | Pharma | 0 | |||
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Calcium | Nutra | 6556 | ||||
| Chromanol 293B | Pharma | Pore Blocker, Antagonist | IKs blocker. Also blocks ICFTR | 0 | ||
| Flupirtine maleate | Pharma | KV7 channel activator | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Kaliotoxin |
|
145199-73-1 |
|
|
(4) Tocris Compounds for KCNIP3 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 |
Transcripts for KCNIP3 Gene
mRNA/cDNA for KCNIP3 Gene
- 2 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000295225 2891 nts (view in UCSC)
- ENST00000360990 2798 nts (view in UCSC)
- ENST00000377181 2971 nts (view in UCSC)
- ENST00000461336 567 nts (view in UCSC)
- ENST00000468529 985 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KCNIP3 - Select products 50% OFF >
- * KCNIP3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KCNIP3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNIP3
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNIP3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNIP3
- Browse OriGene Inhibitory RNA Products For KCNIP3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNIP3
Clone Products
- Applied Biological Materials (abm): Clones for KCNIP3 - Select products 50% OFF >
- * KCNIP3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG203287
- MG219335
- MR203287
- MR203287L3
- MR203287L4
- MR219335
- MR219335L3
- MR219335L4
- MR228996
- RC203957
- RC203957L1
- RC203957L2
- RC203957L3
- RC203957L4
- RC224492
- RC224492L3
- RC224492L4
- RG203957
- RG224492
- RR210796
- RR210796L3
- RR210796L4
- MR203287L3V
- MR203287L4V
- MR219335L3V
- MR219335L4V
- RC203957L1V
- RC203957L2V
- RC203957L3V
- RC203957L4V
- RC224492L3V
- RC224492L4V
- RR210796L3V
- RR210796L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KCNIP3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNIP3
Relevant External Links for KCNIP3 Gene
- GeneLoc Exon Structure for
- KCNIP3
Expression for KCNIP3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Adult Oligodendrocyte Precursor Cells Cortical Sub Ventricular Zone
- Mature Endothelial Cells Blood Brain Barrier
- Hippocampus
- Cerebellum
- Cerebral Cortex
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Eye (Sensory Organs)
- Type4 Off Cone Bipolar Cells Inner Nuclear Layer
-
Neurons
- Type4 Off Cone Bipolar Cells Inner Nuclear Layer
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Neural Tube (Nervous System)
- Adult Oligodendrocyte Precursor Cells Cortical Sub Ventricular Zone
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
-
Blood (Hematopoietic System)
- Natural Killer Cells Peripheral Blood
- Umbilical Cord (Extraembryonic Tissues)
- Thyroid (Endocrine System)
- Neural Crest (Gastrulation Derivatives)
- Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for KCNIP3 Gene
This gene is overexpressed in Brain - Cortex (x5.1).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNIP3
SOURCE GeneReport for Unigene cluster for KCNIP3 Gene:
Hs.437376mRNA 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(4.9)
- Heart(2.2)
- Muscle(2.1)
- Thyroid gland(2.1)
Primer Products
-
OriGene qPCR primer pairs for KCNIP3
-
OriGene qPCR primer pairs and template standards for KCNIP3
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KCNIP3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KCNIP3 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | KCNIP3 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kcnip3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Kcnip3 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KCNIP3 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNIP3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100494097 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | kcnip3a 30 31 |
|
OneToMany | |
| kcnip3b 31 |
|
OneToMany | |||
| zgc73306 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG5890 31 |
|
ManyToMany | |
| CG42683 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | ncs-7 31 |
|
ManyToMany | |
| ncs-4 31 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FRQ1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for KCNIP3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for KCNIP3: view image
Paralogs for KCNIP3 Gene
Paralogs for KCNIP3 Gene
(15) SIMAP similar genes for KCNIP3 Gene using alignment to 1 proteins:
- CSEN_HUMAN
Variants for KCNIP3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNIP3 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_035463 | A breast cancer sample | p.Ala170Ser | |||
| VAR_035464 | A breast cancer sample | p.Asp179Tyr | |||
| rs35658670 | - | p.Ala119Val |
| 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 |
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)
Additional Variant Information for KCNIP3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KCNIP3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNIP3 Gene
Disorders for KCNIP3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alzheimer disease |
|
|
| niemann-pick disease, type c2 |
|
|
| cerebral creatine deficiency syndrome 3 |
|
|
Search KCNIP3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KCNIP3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for KCNIP3 Gene
Publications for KCNIP3 Gene
- Solution structure and calcium-binding properties of EF-hands 3 and 4 of calsenilin. (PMID: 17962406) Yu L … Olejniczak ET (Protein science : a publication of the Protein Society 2007) 3 4 23
- Structure, alternative splicing, and expression of the human and mouse KCNIP gene family. (PMID: 16112838) Pruunsild P … Timmusk T (Genomics 2005) 3 4 23
- Induction of pro-apoptotic calsenilin/DREAM/KChIP3 in Alzheimer's disease and cultured neurons after amyloid-beta exposure. (PMID: 14720210) Jo DG … Jung YK (Journal of neurochemistry 2004) 3 4 23
- Phosphorylation of calsenilin at Ser63 regulates its cleavage by caspase-3. (PMID: 12837631) Choi EK … Wasco W (Molecular and cellular neurosciences 2003) 3 4 23
- 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 EK … Wasco W (The Journal of biological chemistry 2001) 3 4 23
ExternalLinks
Products for KCNIP3 Gene
- Custom Antibody ServicesOriGene Antibodies for KCNIP3
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- RR210796
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- ProSpec Recombinant Proteins for KCNIP3
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- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for KCNIP3 (AFLGC-Kcnip3)
- VectorBuilder Custom and pre-made DNA vectors for KCNIP3 (ie. gene expression, shRNA knockdown, CRISPR)
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- antibodies-online: Show 39 available KCNIP3 Antibodies ranked by validation data
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNIP3
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- Signalway Proteins for KCNIP3
Sources for KCNIP3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
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- (109) Disease Ontology
- (110) Genetics Home Reference
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- (112) MedlinePlus
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- (115) NCBI Bookshelf
- (116) ClinVar
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- (122) ENCODE
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- (124) Horizon
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- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (169) SILVA
- (170) snOPY
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- (172) GENCODE
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- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB