Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNIP4 Gene

Aliases for KCNIP4 Gene

  • Potassium Voltage-Gated Channel Interacting Protein 4 2 3 5
  • A-Type Potassium Channel Modulatory Protein 4 3 4
  • Kv Channel Interacting Protein 4 2 3
  • Calsenilin-Like Protein 3 4
  • KCHIP4 3 4
  • CALP 3 4
  • Potassium Channel-Interacting Protein 4 4
  • Kv 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 Visceral Myopathy. Among its related pathways are Cardiac conduction and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Gene Ontology (GO) annotations related to this gene include calcium ion binding and potassium channel regulator activity. An important paralog of this gene is KCNIP2.

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

Additional gene information for KCNIP4 Gene

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

Genomics for KCNIP4 Gene

GeneHancer (GH) Regulatory Elements for KCNIP4 Gene

Promoters and enhancers for KCNIP4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I021697 Promoter/Enhancer 0.9 EPDnew Ensembl 550.1 +251.0 251000 0.4 BACH1 SIN3A ENSG00000248343 KCNIP4 PIR33436
GH04I021948 Promoter 0.8 EPDnew 550.8 +0.0 11 0.1 CTCF MXI1 POLR2A SUZ12 ZBTB26 EZH2 KCNIP4 ENSG00000250039 PIR41766
GH04I021303 Promoter 0.7 EPDnew 550 +644.8 644792 0.1 MXI1 EZH2 ENSG00000250243 KCNIP4 GC04M020903
GH04I021544 Promoter 0.5 EPDnew 550 +404.1 404124 0.1 KCNIP4 LOC105374516 GC04P021519
GH04I021887 Enhancer 0.4 ENCODE 11.2 +60.6 60584 1.6 JUND FOS ENSG00000250039 KCNIP4 PIR55287 PIR41766
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNIP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNIP4 gene promoter:

Genomic Locations for KCNIP4 Gene

Genomic Locations for KCNIP4 Gene
1,220,196 bases
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:
    Recommended name:
    Kv channel-interacting protein 4
    Protein Accession:
    Secondary Accessions:
    • Q3YAB8
    • Q3YAB9
    • Q3YAC0
    • Q3YAC1
    • Q3YAC2
    • Q4W5G8
    • Q8NEU0
    • Q9BWT2
    • Q9H294
    • Q9H2A4

    Protein attributes for KCNIP4 Gene

    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


neXtProt entry for KCNIP4 Gene

Post-translational modifications for KCNIP4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for KCNIP4 Gene

Domains & Families for KCNIP4 Gene

Gene Families for KCNIP4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for KCNIP4 Gene

Suggested Antigen Peptide Sequences for KCNIP4 Gene

Graphical View of Domain Structure for InterPro Entry



  • 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.
  • 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.
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.

Phenotypes From GWAS Catalog for KCNIP4 Gene

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:0005267 potassium channel activity IEA --
GO:0005509 calcium ion binding IDA 11847232
GO:0005515 protein binding IPI 26871637
GO:0015459 potassium channel regulator activity ISS --
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

CRISPR Products

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNIP4 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 3
endoplasmic reticulum 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for KCNIP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 11847232
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex ISS --
genes like me logo Genes that share ontologies with KCNIP4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNIP4 Gene

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0061337 cardiac conduction TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Ace Inhibitors, Plain Pharma 0

(1) Additional Compounds for KCNIP4 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for KCNIP4 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
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:

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for KCNIP4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KCNIP4 Gene

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

Protein tissue co-expression partners for KCNIP4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNIP4 Gene:


SOURCE GeneReport for Unigene cluster for KCNIP4 Gene:


mRNA Expression by UniProt/SwissProt for KCNIP4 Gene:

Tissue specificity: Predominantly expressed in brain.

Evidence on tissue expression from TISSUES for KCNIP4 Gene

  • Nervous system(4.6)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with KCNIP4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNIP4 Gene

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
(Pan troglodytes)
Mammalia KCNIP4 33 34
  • 99.47 (n)
(Bos Taurus)
Mammalia KCNIP4 33 34
  • 94.13 (n)
(Canis familiaris)
Mammalia KCNIP4 33 34
  • 93.74 (n)
(Rattus norvegicus)
Mammalia Kcnip4 33
  • 93.33 (n)
(Mus musculus)
Mammalia Kcnip4 33 16 34
  • 92.67 (n)
(Monodelphis domestica)
Mammalia KCNIP4 34
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia KCNIP4 34
  • 84 (a)
(Gallus gallus)
Aves KCNIP4 33 34
  • 86.27 (n)
(Anolis carolinensis)
Reptilia KCNIP4 34
  • 89 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16827 33
(Danio rerio)
Actinopterygii KCNIP4 34
  • 78 (a)
LOC100536963 33
  • 74.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42683 33 34
  • 57.65 (n)
CG5890 34
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009626 33
  • 55.33 (n)
(Caenorhabditis elegans)
Secernentea ncs-7 34
  • 34 (a)
ncs-4 34
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRQ1 34
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
Species where no ortholog for KCNIP4 was found in the sources mined by GeneCards:
  • 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

Gene Tree for KCNIP4 (if available)
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 Variation AA Info Type
rs145489027 drug-response, Ace Inhibitors, Plain response - Toxicity/ADR 21,389,571(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000000708 -- 21,703,978(-) G/A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs10000010 -- 21,617,051(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000006926 -- 21,687,291(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000008083 -- 21,173,111(-) G/A genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2061559 CNV deletion 18987734
esv21503 CNV loss 19812545
esv2211934 CNV deletion 18987734
esv2313193 CNV deletion 18987734
esv2318387 CNV deletion 18987734
esv2366017 CNV deletion 18987734
esv2421536 CNV deletion 20811451
esv2497076 CNV deletion 19546169
esv24993 CNV loss 19812545
esv2515465 CNV deletion 19546169
esv2516407 CNV deletion 19546169
esv25397 CNV gain 19812545
esv2564210 CNV insertion 19546169
esv2637742 CNV deletion 19546169
esv2649624 CNV loss 19546169
esv2657164 CNV deletion 23128226
esv2657498 CNV deletion 23128226
esv2658772 CNV deletion 23128226
esv2663319 CNV deletion 23128226
esv1947625 CNV deletion 18987734
esv1765764 CNV deletion 17803354
esv1583394 CNV deletion 17803354
esv1005654 CNV deletion 20482838
dgv992e214 CNV gain 21293372
dgv926e199 CNV deletion 23128226
dgv91n16 CNV deletion 17901297
dgv8982n54 CNV loss 21841781
dgv8981n54 CNV loss 21841781
dgv865n67 CNV loss 20364138
dgv822e201 CNV deletion 23290073
dgv821e201 CNV deletion 23290073
dgv820e201 CNV deletion 23290073
dgv5154n100 CNV gain 25217958
dgv5153n100 CNV loss 25217958
dgv5152n100 CNV loss 25217958
dgv5151n100 CNV loss 25217958
dgv5150n100 CNV loss 25217958
dgv43n47 CNV loss 21111241
dgv2746n106 CNV deletion 24896259
dgv140n73 CNV deletion 24416366
dgv137n6 CNV deletion 16902084
nsv967732 CNV duplication 23825009
nsv966555 CNV deletion 23825009
nsv956911 CNV deletion 24416366
nsv956881 CNV deletion 24416366
nsv956874 CNV deletion 24416366
nsv829880 CNV gain 17160897
nsv829879 CNV gain 17160897
nsv829878 CNV loss 17160897
nsv829877 CNV gain 17160897
nsv829876 CNV gain 17160897
nsv822503 CNV loss 20364138
nsv820351 CNV deletion 20802225
nsv593809 CNV gain 21841781
nsv593808 CNV loss 21841781
nsv593807 CNV loss 21841781
nsv593806 CNV loss 21841781
nsv593805 CNV loss 21841781
nsv593804 CNV gain 21841781
nsv593803 CNV loss 21841781
nsv593800 CNV loss 21841781
nsv593797 CNV loss 21841781
nsv593796 CNV loss 21841781
nsv527678 CNV loss 19592680
nsv527163 CNV loss 19592680
nsv525552 CNV gain 19592680
nsv525271 CNV loss 19592680
nsv522328 CNV loss 19592680
nsv521126 CNV loss 19592680
nsv518367 CNV loss 19592680
nsv514201 CNV loss 21397061
nsv513124 CNV loss 21212237
nsv513123 CNV loss 21212237
nsv511253 CNV loss 21212237
nsv507153 OTHER sequence alteration 20534489
nsv499036 CNV loss 21111241
nsv480185 CNV novel sequence insertion 20440878
nsv474815 CNV novel sequence insertion 20440878
nsv472101 CNV novel sequence insertion 20440878
nsv471806 CNV loss 16327809
nsv470019 CNV loss 18288195
nsv461289 CNV gain 19166990
nsv461288 CNV loss 19166990
nsv442897 CNV loss 18776908
nsv437914 CNV loss 16468122
nsv436413 CNV deletion 17901297
nsv428440 CNV gain 18775914
nsv4270 CNV insertion 18451855
nsv4269 CNV deletion 18451855
nsv4268 CNV insertion 18451855
nsv4267 CNV deletion 18451855
nsv4266 CNV insertion 18451855
nsv4264 CNV deletion 18451855
nsv293542 CNV deletion 16902084
nsv292176 CNV insertion 16902084
nsv292113 CNV deletion 16902084
nsv291793 CNV deletion 16902084
nsv291226 CNV deletion 16902084
nsv1161065 CNV duplication 26073780
nsv1161064 CNV deletion 26073780
nsv1161063 OTHER complex 26073780
nsv1161062 CNV deletion 26073780
nsv1153722 CNV deletion 26484159
nsv1153379 CNV deletion 26484159
nsv1151034 CNV deletion 26484159
nsv1150915 CNV deletion 26484159
nsv1143079 CNV tandem duplication 24896259
nsv1139221 CNV deletion 24896259
nsv1136822 CNV deletion 24896259
nsv1129722 CNV tandem duplication 24896259
nsv1129246 CNV insertion 24896259
nsv1128039 CNV deletion 24896259
nsv1126038 CNV deletion 24896259
nsv1125802 CNV tandem duplication 24896259
nsv1125801 CNV tandem duplication 24896259
nsv1123758 CNV deletion 24896259
nsv1114496 CNV deletion 24896259
nsv1114495 CNV deletion 24896259
nsv1109582 CNV deletion 24896259
nsv1074161 CNV deletion 25765185
nsv1073745 CNV deletion 25765185
nsv10463 CNV loss 18304495
nsv10462 CNV loss 18304495
nsv1014062 CNV gain 25217958
nsv1013365 CNV gain 25217958
nsv1010273 CNV loss 25217958
nsv1009425 CNV loss 25217958
nsv1005221 CNV loss 25217958
nsv1002610 CNV gain 25217958
esv987707 CNV deletion 20482838
esv5703 CNV loss 19470904
esv4912 CNV loss 18987735
esv3893896 CNV loss 25118596
esv3893895 CNV loss 25118596
esv3893894 CNV loss 25118596
esv3599878 CNV loss 21293372
esv3599877 CNV loss 21293372
esv3599876 CNV loss 21293372
esv3599874 CNV loss 21293372
esv3599873 CNV loss 21293372
esv3599871 CNV loss 21293372
esv3599870 CNV loss 21293372
esv3599869 CNV loss 21293372
esv3599868 CNV loss 21293372
esv3599867 CNV gain 21293372
esv3599866 CNV loss 21293372
esv3599865 CNV loss 21293372
esv3599864 CNV loss 21293372
esv3599860 CNV loss 21293372
esv3599858 CNV loss 21293372
esv3599857 CNV loss 21293372
esv3599856 CNV loss 21293372
esv3599855 CNV loss 21293372
esv3599851 CNV loss 21293372
esv3569326 CNV loss 25503493
esv3569325 CNV loss 25503493
esv3569324 CNV loss 25503493
esv3563531 CNV deletion 23714750
esv3563527 CNV deletion 23714750
esv3563523 CNV deletion 23714750
esv3563522 CNV deletion 23714750
esv3428667 CNV insertion 20981092
esv3412685 CNV insertion 20981092
esv3386379 CNV insertion 20981092
esv3356716 CNV insertion 20981092
esv3341344 CNV insertion 20981092
esv3305841 CNV mobile element insertion 20981092
esv3305073 CNV mobile element insertion 20981092
esv3304079 CNV mobile element insertion 20981092
esv3302161 CNV deletion 24192839
esv3047961 CNV deletion 24192839
esv3036 CNV loss 18987735
esv29681 CNV loss 19812545
esv28635 CNV loss 19812545
esv27956 CNV gain 19812545
esv2763849 CNV loss 21179565
esv2763345 CNV loss 21179565
esv2762413 CNV loss 21179565
esv2760912 CNV loss 21179565
esv2760860 CNV loss 21179565
esv2760849 CNV gain+loss 21179565
esv2760822 CNV loss 21179565
esv2759231 CNV gain 17122850
esv2759230 CNV loss 17122850
esv2727286 CNV deletion 23290073
esv2727284 CNV deletion 23290073
esv2727279 CNV deletion 23290073
esv2727278 CNV deletion 23290073
esv2727277 CNV deletion 23290073
esv2727276 CNV deletion 23290073
esv2727275 CNV deletion 23290073
esv2727273 CNV deletion 23290073
esv2727272 CNV deletion 23290073
esv2727271 CNV deletion 23290073
esv2727270 CNV deletion 23290073
esv2727269 CNV deletion 23290073
esv2727268 CNV deletion 23290073
esv2727267 CNV deletion 23290073
esv2727266 CNV deletion 23290073
esv2727264 CNV deletion 23290073
esv27161 CNV loss 19812545
esv2678904 CNV deletion 23128226
esv2678135 CNV deletion 23128226
esv2677878 CNV deletion 23128226
esv2675525 CNV deletion 23128226
esv2670450 CNV deletion 23128226
esv2669757 CNV deletion 23128226
esv2669672 CNV deletion 23128226
esv2668260 CNV deletion 23128226

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)

Additional Variant Information for KCNIP4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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: HGMD and DISEASES

Disorder Aliases PubMed IDs
visceral myopathy
  • vscm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KCNIP4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of biological chemistry 2002) 2 3 4 22 58
  2. Structure, alternative splicing, and expression of the human and mouse KCNIP gene family. (PMID: 16112838) Pruunsild P … Timmusk T (Genomics 2005) 3 4 22 58
  3. Elimination of fast inactivation in Kv4 A-type potassium channels by an auxiliary subunit domain. (PMID: 11805342) Holmqvist MH … An WF (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 58
  4. The stoichiometry and biophysical properties of the Kv4 potassium channel complex with K+ channel-interacting protein (KChIP) subunits are variable, depending on the relative expression level. (PMID: 24811166) Kitazawa M … Nakajo K (The Journal of biological chemistry 2014) 3 4 58
  5. Auxiliary KChIP4a suppresses A-type K+ current through endoplasmic reticulum (ER) retention and promoting closed-state inactivation of Kv4 channels. (PMID: 23576435) Tang YQ … Wang K (The Journal of biological chemistry 2013) 3 4 58

Products for KCNIP4 Gene

Sources for KCNIP4 Gene

Loading form....