Aliases for KCNJ4 Gene
Aliases for KCNJ4 Gene
External Ids for KCNJ4 Gene
- HGNC: 6265
- Entrez Gene: 3761
- Ensembl: ENSG00000168135
- OMIM: 600504
- UniProtKB: P48050
Previous GeneCards Identifiers for KCNJ4 Gene
- GC22M035436
- GC22M037065
- GC22M037146
- GC22M038822
- GC22M021788
Summaries for KCNJ4 Gene
-
Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCNJ4 Gene
KCNJ4 (Potassium Voltage-Gated Channel Subfamily J Member 4) is a Protein Coding gene. Diseases associated with KCNJ4 include Andersen Syndrome. Among its related pathways are Cardiac conduction and Inwardly rectifying K+ channels. GO annotations related to this gene include PDZ domain binding and inward rectifier potassium channel activity. An important paralog of this gene is KCNJ12.
UniProtKB/Swiss-Prot for KCNJ4 Gene
-
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity).
-
The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (Kir2.x), the G-protein-activated inward-rectifier channels (Kir3.x) and the ATP-sensitive channels (Kir6.x), which combine with sulphonylurea receptors.
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ4 Gene
Genomics for KCNJ4 Gene
Regulatory Elements for KCNJ4 Gene
- Transcription factor binding sites by QIAGEN in the KCNJ4 gene promoter:
Regulatory Element Products
Genomic Location for KCNJ4 Gene
- Chromosome:
- 22
- Start:
- 38,426,327 bp from pter
- End:
- 38,455,199 bp from pter
- Size:
- 28,873 bases
- Orientation:
- Minus strand
Genomic View for KCNJ4 Gene
- Cytogenetic band:
-
- 22q13.1 by Ensembl
- 22q13.1 by Entrez Gene
- 22q13.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KCNJ4 Gene
Proteins for KCNJ4 Gene
-
Protein details for KCNJ4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P48050-KCNJ4_HUMAN
- Recommended name:
- Inward rectifier potassium channel 4
- Protein Accession:
- P48050
- Q14D44
Protein attributes for KCNJ4 Gene
- Size:
- 445 amino acids
- Molecular mass:
- 49500 Da
- Quaternary structure:
-
- Homomultimeric and heteromultimeric association with KCNJ2 and KCNJ12. Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking (By similarity). Interacts with TAX1BP3. TAX1BP3 competes with LIN7 family members for KCNJ4 binding.
Protein Expression for KCNJ4 Gene
Post-translational modifications for KCNJ4 Gene
Other Protein References for KCNJ4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for KCNJ4
-
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-
Abcam antibodies for KCNJ4
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- antibodies-online Antibodies for KCNJ4: See all 79
- GeneTex KCNJ4 antibody for KCNJ4
Protein Products
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-
Abcam proteins for KCNJ4
Assay Products
No data available for DME Specific Peptides for KCNJ4 Gene
Domains & Families for KCNJ4 Gene
Gene Families for KCNJ4 Gene
- HGNC:
- IUPHAR :
Protein Domains for KCNJ4 Gene
Suggested Antigen Peptide Sequences for KCNJ4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P48050UniProtKB/Swiss-Prot:
KCNJ4_HUMAN :- The Val/Gly/Ala/Pro stretch may have a functional role in the conductance or permeation properties.
- Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ4 subfamily.
- Domain:
-
- The Val/Gly/Ala/Pro stretch may have a functional role in the conductance or permeation properties.
- Family:
-
- Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ4 subfamily.
Function for KCNJ4 Gene
Molecular function for KCNJ4 Gene
- GENATLAS Biochemistry:
- potassium non voltage-gated channel,inwardly rectifying,expressed in heart
- UniProtKB/Swiss-Prot Function:
- Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005242 | inward rectifier potassium channel activity | TAS | 8016146 |
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 16855024 |
| GO:0015467 | G-protein activated inward rectifier potassium channel activity | TAS | -- |
| GO:0030165 | PDZ domain binding | IPI | 16855024 |
Phenotypes for KCNJ4 Gene
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CRISPR Products
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miRNA for KCNJ4 Gene
- miRTarBase miRNAs that target KCNJ4
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Inhibitory RNA Products
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNJ4 Gene
Localization for KCNJ4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KCNJ4 Gene
- Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane. Note=TAX1BP3 binding promotes dissociation of KCNJ4 from LIN7 famaly members and KCNJ4 internalization. {ECO:0000250}.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0008076 | voltage-gated potassium channel complex | TAS | 8051145 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0016323 | basolateral plasma membrane | IDA | 16855024 |
Pathways & Interactions for KCNJ4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Inwardly rectifying K+ channels | ||
| 2 | Cardiac conduction | ||
| 3 | GABA receptor activation | ||
| 4 | Transmission across Chemical Synapses |
.62
|
|
| 5 | Circadian entrainment | ||
Pathways by source for KCNJ4 Gene
15 Reactome pathways for KCNJ4 Gene
1 PharmGKB pathway for KCNJ4 Gene
2 KEGG pathways for KCNJ4 Gene
1 Qiagen pathway for KCNJ4 Gene
Interacting Proteins for KCNJ4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | TAS | 8051145 |
| GO:0010107 | potassium ion import | IBA | -- |
| GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for KCNJ4 Gene
Drugs & Compounds for KCNJ4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| spermine | Approved | Nutra | Full agonist, Agonist | 0 | ||
| Glyburide | Approved | Pharma | Channel blocker | Kir6 (KATP) channel blocker | 114 | |
| Nicorandil | Approved | Pharma | Activator | Potassium channel activator, Kir6 (KATP) channel opener and NO donor | 17 | |
| putrescine | Experimental | Pharma | Antagonist, Pore Blocker | 0 | ||
| spermidine | Experimental | Pharma | Antagonist, Pore Blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| H<sup>+</sup> (extracellular) |
|
Activator |
|
|||
| H<sup>+</sup> (intracellular) |
|
Antagonist, Gating inhibitor |
|
(5) Tocris Compounds for KCNJ4 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Glibenclamide | Kir6 (KATP) channel blocker | 10238-21-8 |
| Levcromakalim | Kir6 (KATP) channel opener; active enantiomer of cromakalim (Cat. No. 1377) | 94535-50-9 |
| Nicorandil | Kir6 (KATP) channel opener and NO donor | 65141-46-0 |
| Tertiapin-Q | Selective blocker of inward-rectifier K+ channels | 252198-49-5 |
| Y-26763 | Kir6 (KATP) channel opener | 127408-31-5 |
(1) ApexBio Compounds for KCNJ4 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Cesium chloride | Potassium channel blocker | 7647-17-8 |
Drug Products
- ApexBio compounds for KCNJ4
Transcripts for KCNJ4 Gene
mRNA/cDNA for KCNJ4 Gene
- (2) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (37) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for KCNJ4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KCNJ4
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miRNA Products
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Inhibitory RNA Products
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Expression for KCNJ4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Pericytes Splanchnic Mesoderm
mRNA differential expression in normal tissues according to GTEx for KCNJ4 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNJ4 Gene
NURSA nuclear receptor signaling pathways regulating expression of KCNJ4 Gene:
KCNJ4SOURCE GeneReport for Unigene cluster for KCNJ4 Gene:
Hs.32505mRNA Expression by UniProt/SwissProt for KCNJ4 Gene:
P48050-KCNJ4_HUMANEvidence on tissue expression from TISSUES for KCNJ4 Gene
- Nervous system(4.5)
- Muscle(2.4)
- Heart(2.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for KCNJ4
-
OriGene qPCR primer pairs for KCNJ4
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ4 Gene
Orthologs for KCNJ4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KCNJ4 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | KCNJ4 35 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | KCNJ4 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ4 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Kcnj4 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Kcnj4 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | CKIR2.3 35 |
|
OneToOne | |
| KCNJ4 34 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | KCNJ4 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kcnj4 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100331864 34 |
|
||
| KCNJ4 35 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Ir 36 |
|
|
|
| Irk2 36 |
|
|
|||
| Irk3 36 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | irk-1 36 35 |
|
||
| irk-2 36 35 |
|
- Species where no ortholog for KCNJ4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- cow (Bos Taurus)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Paralogs for KCNJ4 Gene
Paralogs for KCNJ4 Gene
(16) SIMAP similar genes for KCNJ4 Gene using alignment to 2 proteins:
Variants for KCNJ4 Gene
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs193920820 | Uncertain significance | 38,427,547(-) | CGGTG(C/T)GCGAC | intron-variant, reference, missense | |
| rs1000189807 | -- | 38,436,695(+) | GAGCA(C/T)TGAGC | intron-variant, nc-transcript-variant | |
| rs1000271425 | -- | 38,454,849(+) | GCGCC(G/T)GGCAG | intron-variant | |
| rs1000299562 | -- | 38,434,727(+) | CAGGC(-/CTCA)CTGTC | intron-variant, nc-transcript-variant | |
| rs1000382819 | -- | 38,448,796(+) | ATGCA(A/G)CCGCA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3647730 | CNV | loss | 21293372 |
| esv3647731 | CNV | loss | 21293372 |
| esv3647732 | CNV | gain | 21293372 |
| nsv1058338 | CNV | gain | 25217958 |
| nsv1060077 | CNV | gain | 25217958 |
| nsv817994 | CNV | gain | 17921354 |
| nsv819157 | CNV | gain | 19587683 |
| nsv834195 | CNV | loss | 17160897 |
Relevant External Links for KCNJ4 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KCNJ4
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ4 Gene
Disorders for KCNJ4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| andersen syndrome |
|
|
Relevant External Links for KCNJ4
No data available for UniProtKB/Swiss-Prot and Genatlas for KCNJ4 Gene
Publications for KCNJ4 Gene
- Primary structure and characterization of a small-conductance inwardly rectifying potassium channel from human hippocampus. (PMID: 8016146) Perier F. … Vandenberg C.A. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 22 64
- L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
- Molecular mechanism of inward rectifier potassium channel 2.3 regulation by tax-interacting protein-1. (PMID: 19635485) Yan X. … Long J. (J. Mol. Biol. 2009) 3 4 64
- Novel insights into the structural basis of pH-sensitivity in inward rectifier K+ channels Kir2.3. (PMID: 18453743) Ureche O.N. … Seebohm G. (Cell. Physiol. Biochem. 2008) 3 22 64
- International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PMID: 16382105) Kubo Y. … Vandenberg C.A. (Pharmacol. Rev. 2005) 2 3 64
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Sources for KCNJ4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
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- (118) ClinicalTrials
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- (122) diseasecard
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- (125) UMLS
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- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




