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Aliases for KCNIP4 Gene

Aliases for KCNIP4 Gene

  • Potassium Voltage-Gated Channel Interacting Protein 4 2 3
  • Kv Channel Interacting Protein 4 2 3 5
  • A-Type Potassium Channel Modulatory Protein 4 3 4
  • Potassium Channel-Interacting Protein 4 3 4
  • Calsenilin-Like Protein 3 4
  • KCHIP4 3 4
  • CALP 3 4
  • Potassium Channel Interacting Protein 4 3

External Ids for KCNIP4 Gene

Previous GeneCards Identifiers for KCNIP4 Gene

  • GC04M020419
  • GC04M020481
  • GC04M020407
  • GC04M020078

Summaries for KCNIP4 Gene

Entrez Gene Summary for KCNIP4 Gene

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

GeneCards Summary for KCNIP4 Gene

KCNIP4 (Potassium Voltage-Gated Channel Interacting Protein 4) is a Protein Coding gene. Diseases associated with KCNIP4 include Epithelial-Myoepithelial Carcinoma. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Phase 1 - inactivation of fast Na+ channels. GO annotations related to this gene include calcium ion binding and potassium channel regulator activity. An important paralog of this gene is KCNIP3.

UniProtKB/Swiss-Prot for KCNIP4 Gene

  • Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates KCND2 channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner (PubMed:11847232, PubMed:18957440, PubMed:23576435). Modulates KCND3/Kv4.3 currents (PubMed:23576435). Isoform 4 does not increase KCND2 expression at the cell membrane (PubMed:18957440). Isoform 4 retains KCND3 in the endoplasmic reticulum and negatively regulates its expression at the cell membrane.

Tocris Summary for KCNIP4 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 KCNIP4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNIP4 Gene

Genomics for KCNIP4 Gene

Regulatory Elements for KCNIP4 Gene

Enhancers for KCNIP4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCNIP4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNIP4 Gene

Chromosome:
4
Start:
20,728,606 bp from pter
End:
21,948,801 bp from pter
Size:
1,220,196 bases
Orientation:
Minus strand

Genomic View for KCNIP4 Gene

Genes around KCNIP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNIP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNIP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNIP4 Gene

Proteins for KCNIP4 Gene

  • Protein details for KCNIP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PIL6-KCIP4_HUMAN
    Recommended name:
    Kv channel-interacting protein 4
    Protein Accession:
    Q6PIL6
    Secondary Accessions:
    • Q3YAB8
    • Q3YAB9
    • Q3YAC0
    • Q3YAC1
    • Q3YAC2
    • Q4W5G8
    • Q8NEU0
    • Q9BWT2
    • Q9H294
    • Q9H2A4

    Protein attributes for KCNIP4 Gene

    Size:
    250 amino acids
    Molecular mass:
    28729 Da
    Quaternary structure:
    • Component of heteromultimeric potassium channels (PubMed:23576435). Identified in potassium channel complexes containing KCND1, KCND2, KCND3, KCNIP1, KCNIP2, KCNIP3, KCNIP4, DPP6 and DPP10 (By similarity). Interacts with KCND2 (PubMed:11847232, PubMed:18957440). Interacts with KCND3 (By similarity). Interacts with the C-terminus of PSEN2 and probably PSEN1 (PubMed:11847232).

    Alternative splice isoforms for KCNIP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNIP4 Gene

Proteomics data for KCNIP4 Gene at MOPED

Post-translational modifications for KCNIP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCNIP4 Gene

Domains & Families for KCNIP4 Gene

Protein Domains for KCNIP4 Gene

Suggested Antigen Peptide Sequences for KCNIP4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6PIL6

UniProtKB/Swiss-Prot:

KCIP4_HUMAN :
  • The KIS (K-channel inactivation suppressor) domain is required for converting A-type Kv4 current to a slowly inactivating delayed rectifier potassium current.
  • Belongs to the recoverin family.
Domain:
  • The KIS (K-channel inactivation suppressor) domain is required for converting A-type Kv4 current to a slowly inactivating delayed rectifier potassium current.
  • Contains 4 EF-hand domains.
Family:
  • Belongs to the recoverin family.
genes like me logo Genes that share domains with KCNIP4: view

Function for KCNIP4 Gene

Molecular function for KCNIP4 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates KCND2 channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner (PubMed:11847232, PubMed:18957440, PubMed:23576435). Modulates KCND3/Kv4.3 currents (PubMed:23576435). Isoform 4 does not increase KCND2 expression at the cell membrane (PubMed:18957440). Isoform 4 retains KCND3 in the endoplasmic reticulum and negatively regulates its expression at the cell membrane.

Gene Ontology (GO) - Molecular Function for KCNIP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005509 calcium ion binding IEA,IDA 11847232
genes like me logo Genes that share ontologies with KCNIP4: view
genes like me logo Genes that share phenotypes with KCNIP4: view

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KCNIP4 Gene

Localization for KCNIP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNIP4 Gene

Cell membrane; Peripheral membrane protein. Cytoplasm.
Isoform 4: Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNIP4 Gene COMPARTMENTS Subcellular localization image for KCNIP4 gene
Compartment Confidence
cytosol 5
plasma membrane 5
endoplasmic reticulum 3
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for KCNIP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS,TAS --
genes like me logo Genes that share ontologies with KCNIP4: view

Pathways & Interactions for KCNIP4 Gene

genes like me logo Genes that share pathways with KCNIP4: view

Pathways by source for KCNIP4 Gene

Gene Ontology (GO) - Biological Process for KCNIP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0072659 protein localization to plasma membrane ISS --
genes like me logo Genes that share ontologies with KCNIP4: view

No data available for SIGNOR curated interactions for KCNIP4 Gene

Drugs & Compounds for KCNIP4 Gene

(4) Drugs for KCNIP4 Gene - From: PharmGKB, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ace Inhibitors, Plain Pharma 0
calcium Nutra 0
Flupirtine maleate Pharma KV7 channel activator 0

(4) Additional Compounds for KCNIP4 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4

(5) Tocris Compounds for KCNIP4 Gene

Compound Action Cas Number
Flupirtine maleate KV7 channel activator 75507-68-5
L-364,373 KV7.1 channel activator, activates IKs 103342-82-1
NS 1643 KV11.1 (hERG) channel activator; antiarrhythmic 448895-37-2
NS 5806 KV4.3 channel activator 426834-69-7
PD 118057 Selective KV11.1 (hERG) channel activator 313674-97-4
genes like me logo Genes that share compounds with KCNIP4: view

Transcripts for KCNIP4 Gene

Unigene Clusters for KCNIP4 Gene

Kv channel interacting protein 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNIP4 Gene

No ASD Table

Relevant External Links for KCNIP4 Gene

GeneLoc Exon Structure for
KCNIP4
ECgene alternative splicing isoforms for
KCNIP4

Expression for KCNIP4 Gene

mRNA expression in normal human tissues for KCNIP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNIP4 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.9), Brain - Anterior cingulate cortex (BA24) (x6.1), Brain - Cortex (x5.0), and Brain - Nucleus accumbens (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for KCNIP4 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (67.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNIP4 Gene



SOURCE GeneReport for Unigene cluster for KCNIP4 Gene Hs.655705

mRNA Expression by UniProt/SwissProt for KCNIP4 Gene

Q6PIL6-KCIP4_HUMAN
Tissue specificity: Predominantly expressed in brain.
genes like me logo Genes that share expression patterns with KCNIP4: view

Protein tissue co-expression partners for KCNIP4 Gene

- Elite partner

Orthologs for KCNIP4 Gene

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

Orthologs for KCNIP4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNIP4 35
  • 94.13 (n)
  • 98.8 (a)
KCNIP4 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNIP4 35
  • 93.74 (n)
  • 98.98 (a)
KCNIP4 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnip4 35
  • 92.67 (n)
  • 99.6 (a)
Kcnip4 16
Kcnip4 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNIP4 35
  • 99.47 (n)
  • 100 (a)
KCNIP4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnip4 35
  • 93.33 (n)
  • 99.6 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNIP4 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNIP4 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNIP4 35
  • 86.27 (n)
  • 96.76 (a)
KCNIP4 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNIP4 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16827 35
zebrafish
(Danio rerio)
Actinopterygii LOC100536963 35
  • 74.83 (n)
  • 85.71 (a)
KCNIP4 36
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009626 35
  • 55.33 (n)
  • 54 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG42683 35
  • 57.65 (n)
  • 55.1 (a)
CG42683 36
  • 16 (a)
ManyToMany
CG5890 36
  • 44 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ncs-4 36
  • 28 (a)
ManyToMany
ncs-7 36
  • 34 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRQ1 36
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for KCNIP4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KCNIP4 Gene

ENSEMBL:
Gene Tree for KCNIP4 (if available)
TreeFam:
Gene Tree for KCNIP4 (if available)

Paralogs for KCNIP4 Gene

(14) SIMAP similar genes for KCNIP4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KCNIP4: view

Variants for KCNIP4 Gene

Sequence variations from dbSNP and Humsavar for KCNIP4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs2340 -- 21,621,170(-) GAGTA(G/T)TTTTG intron-variant
rs3132 -- 21,474,100(-) ACAGA(C/T)GCCAA intron-variant
rs168583 -- 21,451,823(+) ATACC(A/G)AATAG intron-variant
rs168625 -- 21,830,032(+) attat(C/G)caatc intron-variant
rs168626 -- 21,831,322(+) tgaaa(A/T)agaga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNIP4 Gene

Variant ID Type Subtype PubMed ID
nsv829876 CNV Gain 17160897
nsv829877 CNV Gain 17160897
nsv878743 CNV Loss 21882294
nsv878744 CNV Gain 21882294
esv2366017 CNV Deletion 18987734
esv1583394 CNV Deletion 17803354
dgv867e201 CNV Deletion 23290073
esv2727264 CNV Deletion 23290073
esv2678135 CNV Deletion 23128226
nsv829878 CNV Loss 17160897
esv2727266 CNV Deletion 23290073
dgv5488n71 CNV Gain 21882294
esv27161 CNV Loss 19812545
esv2658772 CNV Deletion 23128226
nsv522328 CNV Loss 19592680
esv2670450 CNV Deletion 23128226
nsv878748 CNV Gain 21882294
nsv525552 CNV Gain 19592680
esv27956 CNV Gain 19812545
esv21503 CNV Loss 19812545
nsv4264 CNV Loss 18451855
esv2678904 CNV Deletion 23128226
esv1005654 CNV Deletion 20482838
esv2657498 CNV Deletion 23128226
nsv513123 CNV Loss 21212237
esv2637742 CNV Deletion 19546169
dgv91n16 CNV Deletion 17901297
esv2318387 CNV Deletion 18987734
esv4912 CNV Deletion 18987735
esv2727267 CNV Deletion 23290073
dgv43n47 CNV Loss 21111241
nsv293542 CNV Loss 16902084
dgv1590e1 CNV Complex 17122850
esv2211934 CNV Deletion 18987734
nsv471806 CNV Loss 16327809
esv2663319 CNV Deletion 23128226
esv2564210 CNV Insertion 19546169
esv269351 CNV Insertion 20981092
nsv878749 CNV Gain 21882294
esv2727268 CNV Deletion 23290073
nsv292176 CNV Insertion 16902084
esv29681 CNV Loss 19812545
nsv437914 CNV Loss 16468122
esv2668260 CNV Deletion 23128226
esv2727269 CNV Deletion 23290073
esv2727270 CNV Deletion 23290073
nsv521126 CNV Loss 19592680
nsv4266 CNV Insertion 18451855
nsv4267 CNV Loss 18451855
esv2649624 CNV Loss 19546169
esv2421536 CNV Deletion 20811451
esv2516407 CNV Deletion 19546169
esv1947625 CNV Deletion 18987734
nsv10462 CNV Loss 18304495
nsv436413 CNV Deletion 17901297
esv2727271 CNV Deletion 23290073
dgv926e199 CNV Deletion 23128226
nsv499036 CNV Loss 21111241
esv28635 CNV Loss 19812545
esv5703 CNV Loss 19470904
nsv822503 CNV Loss 20364138
nsv514201 CNV Loss 21397061
esv2669757 CNV Deletion 23128226
nsv442897 CNV CNV 18776908
nsv829879 CNV Gain 17160897
esv2675525 CNV Deletion 23128226
esv24993 CNV Loss 19812545
nsv518367 CNV Loss 19592680
nsv511253 CNV Loss 21212237
nsv513124 CNV Loss 21212237
dgv865n67 CNV Loss 20364138
nsv820351 CNV Deletion 20802225
esv2677878 CNV Deletion 23128226
esv2727272 CNV Deletion 23290073
nsv527163 CNV Loss 19592680
nsv829880 CNV Gain 17160897
nsv878750 CNV Loss 21882294
nsv527678 CNV Loss 19592680
esv2657164 CNV Deletion 23128226
nsv525271 CNV Loss 19592680
nsv470019 CNV Loss 18288195
esv2727273 CNV Deletion 23290073
esv2727275 CNV Deletion 23290073
esv2669672 CNV Deletion 23128226
esv1765764 CNV Deletion 17803354
nsv291793 CNV Loss 16902084
esv2727276 CNV Deletion 23290073
esv2727277 CNV Deletion 23290073
esv268358 CNV Insertion 20981092
nsv461288 CNV Loss 19166990
nsv4268 CNV Insertion 18451855
nsv461289 CNV Gain 19166990
esv2515465 CNV Deletion 19546169
esv2313193 CNV Deletion 18987734
esv3036 CNV Deletion 18987735
esv2727278 CNV Deletion 23290073
nsv878751 CNV Loss 21882294
esv2497076 CNV Deletion 19546169
esv2727279 CNV Deletion 23290073
dgv868e201 CNV Deletion 23290073
dgv869e201 CNV Deletion 23290073
esv2061559 CNV Deletion 18987734
dgv137n6 CNV Loss 16902084
esv2727284 CNV Deletion 23290073
nsv292113 CNV Loss 16902084
esv2727286 CNV Deletion 23290073
nsv4269 CNV Loss 18451855
esv25397 CNV Gain 19812545
nsv507153 CNV Insertion 20534489
nsv291226 CNV Loss 16902084
dgv1591e1 CNV Complex 17122850
nsv428440 CNV Gain 18775914
esv987707 CNV Deletion 20482838
esv270118 CNV Insertion 20981092
nsv10463 CNV Loss 18304495
nsv4270 CNV Insertion 18451855

Variation tolerance for KCNIP4 Gene

Residual Variation Intolerance Score: 21.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNIP4 Gene

Human Gene Mutation Database (HGMD)
KCNIP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNIP4 Gene

Disorders for KCNIP4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNIP4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epithelial-myoepithelial carcinoma
  • clear cell adenoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCNIP4

Genetic Association Database (GAD)
KCNIP4
Human Genome Epidemiology (HuGE) Navigator
KCNIP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNIP4
genes like me logo Genes that share disorders with KCNIP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNIP4 Gene

Publications for KCNIP4 Gene

  1. Molecular cloning and characterization of CALP/KChIP4, a novel EF- hand protein interacting with presenilin 2 and voltage-gated potassium channel subunit Kv4. (PMID: 11847232) Morohashi Y. … Iwatsubo T. (J. Biol. Chem. 2002) 2 3 4 23 67
  2. Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene. (PMID: 17981209) Bonne A. … Geurts van Kessel A. (Cancer Genet. Cytogenet. 2007) 3 23
  3. Structure, alternative splicing, and expression of the human and mouse KCNIP gene family. (PMID: 16112838) Pruunsild P. … Timmusk T. (Genomics 2005) 3 23
  4. Elimination of fast inactivation in Kv4 A-type potassium channels by an auxiliary subunit domain. (PMID: 11805342) Holmqvist M.H. … An W.F. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for KCNIP4 Gene

Sources for KCNIP4 Gene

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