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Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and p... See more...
Aliases for KCNJ3 Gene
Aliases for KCNJ3 Gene
External Ids for KCNJ3 Gene
- HGNC: 6264
- Entrez Gene: 3760
- Ensembl: ENSG00000162989
- OMIM: 601534
- UniProtKB: P48549
Previous GeneCards Identifiers for KCNJ3 Gene
- GC02P153486
- GC02P154084
- GC02P155519
- GC02P155757
- GC02P155380
- GC02P155263
- GC02P147441
- GC02P155555
Summaries for KCNJ3 Gene
-
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]
GeneCards Summary for KCNJ3 Gene
KCNJ3 (Potassium Inwardly Rectifying Channel Subfamily J Member 3) is a Protein Coding gene. Diseases associated with KCNJ3 include Epilepsy and Myasthenic Syndrome, Congenital, 8. Among its related pathways are GABAergic synapse and Inwardly rectifying K+ channels. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity and G-protein activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ5.
UniProtKB/Swiss-Prot Summary for KCNJ3 Gene
-
This potassium channel is controlled by G proteins. 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. This receptor plays a crucial role in regulating the heartbeat.
-
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.
Additional gene information for KCNJ3 Gene
- HGNC(6264)
- Entrez Gene(3760)
- Ensembl(ENSG00000162989)
- OMIM(601534)
- UniProtKB(P48549)
- Open Targets Platform(ENSG00000162989)
- Search for KCNJ3 at DataMed
- Search for KCNJ3 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNJ3 Gene
Genomics for KCNJ3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KCNJ3 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH02J154696 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 600.7 | +0.7 | 668 | 5 | TEAD4 KDM1A SP1 EZH2 CTCF FOXA2 YY1 ZBTB17 SIN3A NFIB | ENSG00000287900 KCNJ3 | |
| GH02J154486 | Promoter | 0.4 | EPDnew | 600.1 | -211.5 | -211463 | 0.1 | RELB | LOC105373693 lnc-GALNT13-4 KCNJ3 ENSG00000238004 LOC100144595 LOC105373694 lnc-RPRM-4 LOC105373692 GALNT13 | |
| GH02J155145 | Enhancer | 1 | FANTOM5 dbSUPER | 5 | +448.0 | 448026 | 0.3 | SP1 BACH1 STAT3 JUND RELA RAD21 TCF12 IKZF2 RCOR1 TRIM22 | HSALNG0019728 KCNJ3 piR-32470-035 | |
| GH02J155099 | Enhancer | 0.8 | Ensembl ENCODE | 4.1 | +402.2 | 402154 | 1.2 | NFE2 USF1 ESRRA MAFG NFIC DPF2 TCF7L2 NFIB USF2 FOSL2 | KCNJ3 RF00026-586 RNU6-1001P HSALNG0019728 | |
| GH02J154963 | Enhancer | 0.3 | Ensembl | 9.3 | +266.1 | 266146 | 0.4 | ESR1 | KCNJ3 CBX3P6 ENSG00000230991 LOC105373696 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around KCNJ3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNJ3
- Top Transcription factor binding sites by QIAGEN in the KCNJ3 gene promoter:
-
- GATA-1
- GR
- GR-alpha
- HOXA9
- HOXA9B
- Meis-1
- Meis-1b
- NF-1
- NF-1/L
- PPAR-alpha
Genomic Locations for KCNJ3 Gene
Genomic Locations for KCNJ3 Gene
- chr2:154,697,855-154,858,354
- (GRCh38/hg38)
- Size:
- 160,500 bases
- Orientation:
- Plus strand
- chr2:155,554,811-155,714,863
- (GRCh37/hg19)
- Size:
- 160,053 bases
- Orientation:
- Plus strand
Genomic View for KCNJ3 Gene
Genes around KCNJ3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q24.1 by HGNC
- 2q24.1 by Entrez Gene
- 2q24.1 by Ensembl
KCNJ3 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 KCNJ3 Gene
Proteins for KCNJ3 Gene
-
Protein details for KCNJ3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P48549-KCNJ3_HUMAN
- Recommended name:
- G protein-activated inward rectifier potassium channel 1
- Protein Accession:
- P48549
- B4DEW7
- Q8TBI0
Protein attributes for KCNJ3 Gene
- Size:
- 501 amino acids
- Molecular mass:
- 56603 Da
- Quaternary structure:
-
- Associates with GIRK2, GIRK3 or GIRK4 to form a G-protein activated heteromultimer pore-forming unit. The resulting inward current is much larger (By similarity).
Protein Expression for KCNJ3 Gene
Post-translational modifications for KCNJ3 Gene
Other Protein References for KCNJ3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences KCNJ3 / GIRK1 Antibody
- G Biosciences Immunotag™ KIR3.1 Antibody
- Alomone Labs, Ltd. Anti-KV11.1 (HERG) (extracellular)-FITC Antibody
- Creative Diagnostics Anti-KCNJ3 monoclonal antibody, clone FQS7474
- GeneTex Anti-GIRK1 antibody [N3C3]
-
Custom Antibody ServicesOriGene Antibodies for KCNJ3
- Novus Biologicals Antibodies for KCNJ3
-
Abcam antibodies for KCNJ3
- Invitrogen Antibodies for KCNJ3 (AFLGC-KCNJ3)
-
Boster Bio Antibodies for KCNJ3
-
Santa Cruz Biotechnology (SCBT) Antibodies for KCNJ3
Protein Products
-
OriGene Purified Proteins for KCNJ3
- Search Origene for MassSpec and Protein Over-expression Lysates for KCNJ3
- Origene Custom Protein Services for KCNJ3
- antibodies-online: Show 5 available KCNJ3 Proteins ranked by validation data
- Compare Top KCNJ3 Proteins
-
Quality Products:
Assay Products
- antibodies-online: Show 4 available KCNJ3 Elisa Kits ranked by validation data
- Compare Top KCNJ3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for KCNJ3 Gene
Domains & Families for KCNJ3 Gene
Gene Families for KCNJ3 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted membrane proteins
- Transporters
- Voltage-gated ion channels
Protein Domains for KCNJ3 Gene
- InterPro:
- Blocks:
-
- Inward rectifier K+ channel superfamily signature
- Kir3.1 inward rectifier K+ channel signature
- ProtoNet:
Suggested Antigen Peptide Sequences for KCNJ3 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ56567, highly similar to G protein-activated inward rectifier potassium channel 1 (B4DEW7_HUMAN)
- Potassium inwardly-rectifying channel subfamily J member 3 splice variant 1c (D2X9V0_HUMAN)
- Potassium inwardly-rectifying channel subfamily J member 3 splice variant 1e (D2XBF0_HUMAN)
- Potassium channel, inwardly rectifying subfamily J member 3 (IRK3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P48549UniProtKB/Swiss-Prot:
KCNJ3_HUMAN :- Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ3 subfamily.
- Family:
-
- Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ3 subfamily.
Function for KCNJ3 Gene
Molecular function for KCNJ3 Gene
- UniProtKB/Swiss-Prot Function:
- This potassium channel is controlled by G proteins. 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. This receptor plays a crucial role in regulating the heartbeat.
- GENATLAS Biochemistry:
- potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 3,expressed in heart,unlikely to be involved in juvenile myoclonic epilepsy
Phenotypes From GWAS Catalog for KCNJ3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005242 | contributes_to inward rectifier potassium channel activity | IDA | 12297500 |
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 12297500 |
| GO:0015467 | G-protein activated inward rectifier potassium channel activity | TAS,IEA | -- |
| GO:0086089 | voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization | IC | 20560207 |
Phenotypes for KCNJ3 Gene
- MGI mutant phenotypes for KCNJ3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for KCNJ3:
-
- Decreased hepcidin::fluc mRNA expression
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Increased ionizing radiation sensitivity
- Decreased homologous recombination repair frequency
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased HPV16-GFP infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
Animal Models for KCNJ3 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for KCNJ3
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KCNJ3 - Select products 50% OFF >
- * KCNJ3 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 KCNJ3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ3
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ3
miRNA for KCNJ3 Gene
- miRTarBase miRNAs that target KCNJ3
-
- mmu-miR-223-3p (MIRT009554)
- mmu-miR-340-5p (MIRT010200)
- mmu-miR-297a-5p (MIRT012978)
- mmu-miR-24-3p (MIRT013719)
- mmu-miR-149-5p (MIRT014533)
- hsa-miR-1277-5p (MIRT506902)
- hsa-miR-297 (MIRT506903)
- hsa-miR-3924 (MIRT506904)
- hsa-miR-190a-3p (MIRT506905)
- hsa-miR-223-5p (MIRT506906)
- hsa-miR-567 (MIRT506907)
- hsa-miR-511-3p (MIRT506908)
- hsa-miR-5011-5p (MIRT506909)
- hsa-miR-374a-3p (MIRT522896)
- hsa-miR-6867-5p (MIRT522897)
- hsa-miR-2115-3p (MIRT522898)
- hsa-miR-361-5p (MIRT522899)
- hsa-miR-3941 (MIRT556827)
- hsa-miR-603 (MIRT556828)
- hsa-miR-362-3p (MIRT556829)
- hsa-miR-329-3p (MIRT556830)
- hsa-miR-8485 (MIRT556831)
- hsa-miR-129-5p (MIRT762365)
- hsa-miR-1273f (MIRT783306)
- hsa-miR-143-3p (MIRT783805)
- hsa-miR-4708-5p (MIRT786476)
- hsa-miR-4770 (MIRT786690)
- hsa-miR-6088 (MIRT788032)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNJ3
- Browse OriGene Inhibitory RNA Products For KCNJ3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ3
Clone Products
- Applied Biological Materials (abm): Clones for KCNJ3 - Select products 50% OFF >
- * KCNJ3 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
- Sino Biological Human cDNA Clone for KCNJ3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNJ3
Cell Line Products
-
Horizon Cell Lines for KCNJ3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNJ3 Gene
Localization for KCNJ3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KCNJ3 Gene
- Membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0008076 | voltage-gated potassium channel complex | IDA | 20560207 |
| GO:0009897 | external side of plasma membrane | IEA | -- |
| GO:0009986 | cell surface | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNJ3 Gene
Pathways & Interactions for KCNJ3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Circadian entrainment | ||
| 2 | Inwardly rectifying K+ channels | ||
| 3 | GABA receptor activation | ||
| 4 | Transmission across Chemical Synapses |
.62
|
|
| 5 | GABAergic synapse | ||
Pathways by source for KCNJ3 Gene
2 BioSystems pathways for KCNJ3 Gene
11 Reactome pathways for KCNJ3 Gene
1 PharmGKB pathway for KCNJ3 Gene
10 KEGG pathways for KCNJ3 Gene
2 Qiagen pathways for KCNJ3 Gene
- Dopamine-DARPP32 Feedback onto cAMP Pathway
- G-Beta Gamma Signaling
Interacting Proteins for KCNJ3 Gene
GPS-Prot Interaction Network for KCNJ3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | TAS | 8804710 |
| GO:0034220 | ion transmembrane transport | IEA | -- |
| GO:0034765 | regulation of ion transmembrane transport | IBA | 21873635 |
| GO:0051602 | response to electrical stimulus | IEA | -- |
Drugs & Compounds for KCNJ3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Ethanol | Approved | Pharma | Target | 3266 | ||
| Atomoxetine | Approved | Pharma | Target, inhibitor | 0 | ||
| Dronedarone | Approved | Pharma | Target, inhibitor | 34 | ||
| Halothane | Approved, Vet_approved | Pharma | Activator, Inhibitor, Target, inhibitor | 3 | ||
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 |
(5) Tocris Compounds for KCNJ3 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Glibenclamide | Kir6 (KATP) channel blocker | 10238-21-8 |
| Minoxidil | Kir6 channel (KATP) opener | 38304-91-5 |
| Nicorandil | Kir6 (KATP) channel opener and NO donor | 65141-46-0 |
| P1075 | Potent Kir6 (KATP) channel opener | 60559-98-0 |
| ZM 226600 | Kir6 (KATP) channel opener | 147695-92-9 |
Transcripts for KCNJ3 Gene
mRNA/cDNA for KCNJ3 Gene
- 4 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000295101 4628 nts (view in UCSC)
- ENST00000493505 564 nts (view in UCSC)
- ENST00000544049 4523 nts (view in UCSC)
- ENST00000651198 3691 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KCNJ3 - Select products 50% OFF >
- * KCNJ3 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 KCNJ3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ3
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNJ3
- Browse OriGene Inhibitory RNA Products For KCNJ3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ3
Clone Products
- Applied Biological Materials (abm): Clones for KCNJ3 - Select products 50% OFF >
- * KCNJ3 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
- Sino Biological Human cDNA Clone for KCNJ3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNJ3
Relevant External Links for KCNJ3 Gene
- GeneLoc Exon Structure for
- KCNJ3
Expression for KCNJ3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Epiblast (Early Embryonic Tissues)
-
Eye (Sensory Organs)
- nGnG Amacrine Cells Inner Nuclear Layer
-
Neurons
- nGnG Amacrine Cells Inner Nuclear Layer
- Brain (Nervous System)
-
Prostate (Endocrine System)
-
Testis (Reproductive System)
-
Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for KCNJ3 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x10.3), Brain - Cerebellum (x7.8), Brain - Frontal Cortex (BA9) (x5.3), Brain - Anterior cingulate cortex (BA24) (x4.5), and Heart - Atrial Appendage (x4.2).
This gene is overexpressed in Heart (44.6), Cerebral cortex (14.7), and Urine (9.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNJ3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNJ3
SOURCE GeneReport for Unigene cluster for KCNJ3 Gene:
Hs.591606Evidence on tissue expression from TISSUES for KCNJ3 Gene
- Nervous system(4.7)
- Heart(2.9)
- Muscle(2.8)
- Kidney(2.4)
Primer Products
-
OriGene qPCR primer pairs for KCNJ3
-
OriGene qPCR primer pairs and template standards for KCNJ3
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ3 Gene
Orthologs for KCNJ3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KCNJ3 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KCNJ3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KCNJ3 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ3 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kcnj3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Kcnj3 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | KCNJ3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KCNJ3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | KCNJ3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kcnj3 30 |
|
||
| Str.12058 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | KCNJ3 (2 of 2) 31 |
|
OneToMany | |
| KCNJ3 (1 of 2) 31 |
|
OneToMany | |||
| si:ch73-83c10.1 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ir 32 |
|
|
|
| Irk2 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | irk-1 32 |
|
|
|
| irk-2 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for KCNJ3 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)
- 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)
- 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 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 KCNJ3 Gene
- ENSEMBL:
- Gene Tree for KCNJ3 (if available)
- TreeFam:
- Gene Tree for KCNJ3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KCNJ3: view image
Paralogs for KCNJ3 Gene
Paralogs for KCNJ3 Gene
(16) SIMAP similar genes for KCNJ3 Gene using alignment to 4 proteins:
- IRK3_HUMAN
- D2X9V0_HUMAN
- D2XBF0_HUMAN
- Q53R59_HUMAN
Variants for KCNJ3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNJ3 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 710586 | Benign: not provided | 154,855,301(+) | T/C | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
| rs16838016 | - | p.Lys40Arg |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv7127n54 | CNV | loss | 21841781 |
| dgv747e214 | CNV | loss | 21293372 |
| esv3593001 | CNV | gain | 21293372 |
| nsv1003775 | CNV | loss | 25217958 |
| nsv2984 | CNV | insertion | 18451855 |
| nsv583426 | CNV | loss | 21841781 |
| nsv7331 | OTHER | inversion | 18451855 |
| nsv834429 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.63;
13.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KCNJ3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ3 Gene
Disorders for KCNJ3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epilepsy |
|
|
| myasthenic syndrome, congenital, 8 |
|
|
| long qt syndrome |
|
|
| night blindness, congenital stationary, type 1h |
|
|
| charcot-marie-tooth disease, dominant intermediate f |
|
|
Search KCNJ3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KCNJ3
- 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 KCNJ3 Gene
Publications for KCNJ3 Gene
- Genetic variation in the inwardly rectifying K channel subunits KCNJ3 (GIRK1) and KCNJ5 (GIRK4) in patients with sinus node dysfunction. (PMID: 20110696) Holmegard HN … Svendsen JH (Cardiology 2010) 3 23 41
- Cloning of a G protein-activated inwardly rectifying potassium channel from human cerebellum. (PMID: 8804710) Schoots O … Van Tol HH (Brain research. Molecular brain research 1996) 3 4 23
- Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism. (PMID: 8088798) Stoffel M … Bell GI (Genomics 1994) 2 3 23
- Cloning and characterisation of GIRK1 variants resulting from alternative RNA editing of the KCNJ3 gene transcript in a human breast cancer cell line. (PMID: 20512921) Wagner V … Schreibmayer W (Journal of cellular biochemistry 2010) 3 23
- Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41
ExternalLinks
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Sources for KCNJ3 Gene
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