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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. Defe... See more...
Aliases for KCNJ8 Gene
Aliases for KCNJ8 Gene
External Ids for KCNJ8 Gene
- HGNC: 6269
- NCBI Entrez Gene: 3764
- Ensembl: ENSG00000121361
- OMIM®: 600935
- UniProtKB/Swiss-Prot: Q15842
Previous GeneCards Identifiers for KCNJ8 Gene
- GC12M022204
- GC12M021920
- GC12M021818
- GC12M021809
- GC12M021692
- GC12M021917
Summaries for KCNJ8 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. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
GeneCards Summary for KCNJ8 Gene
KCNJ8 (Potassium Inwardly Rectifying Channel Subfamily J Member 8) is a Protein Coding gene. Diseases associated with KCNJ8 include Cantu Syndrome and Sudden Infant Death Syndrome. Among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Dopamine-DARPP32 Feedback onto cAMP Pathway. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity and ATP-activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ11.
UniProtKB/Swiss-Prot Summary for KCNJ8 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. Can be blocked by external barium (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.
Additional gene information for KCNJ8 Gene
- HGNC (6269)
- NCBI Entrez Gene (3764)
- Ensembl (ENSG00000121361)
- OMIM® (600935)
- UniProtKB/Swiss-Prot (Q15842)
- Open Targets Platform(ENSG00000121361)
- Monarch Initiative
- Search for KCNJ8 at DataMed
- Search for KCNJ8 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNJ8 Gene
Genomics for KCNJ8 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KCNJ8 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 KCNJ8 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNJ8
- Top Transcription factor binding sites by QIAGEN in the KCNJ8 gene promoter:
-
- Gfi-1
- GR
- GR-alpha
- HOXA9
- HOXA9B
- ISGF-3
- Meis-1
- Meis-1a
- Olf-1
- PPAR-gamma2
Genomic Locations for KCNJ8 Gene
Latest Assembly
- chr12:21,764,955-21,775,600
- (GRCh38/hg38)
- Size:
- 10,646 bases
- Orientation:
- Minus strand
Previous Assembly
- chr12:21,917,889-21,927,640
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 9,752 bases
- Orientation:
- Minus strand
- chr12:21,917,889-21,928,515
- (GRCh37/hg19 by Ensembl)
- Size:
- 10,627 bases
- Orientation:
- Minus strand
Genomic View for KCNJ8 Gene
Genes around KCNJ8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p12.1 by HGNC
- 12p12.1 by Entrez Gene
- 12p12.1 by Ensembl
KCNJ8 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 KCNJ8 Gene
Proteins for KCNJ8 Gene
-
Protein details for KCNJ8 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15842-KCNJ8_HUMAN
- Recommended name:
- ATP-sensitive inward rectifier potassium channel 8
- Protein Accession:
- Q15842
- O00657
Protein attributes for KCNJ8 Gene
- Size:
- 424 amino acids
- Molecular mass:
- 47968 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for KCNJ8 Gene
Other Protein References for KCNJ8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences KCNJ8 / Kir6.1 Antibody
- G Biosciences Immunotag™ KCNJ8 Antibody
-
Custom Antibody ServicesOriGene Antibodies for KCNJ8
- Novus Biologicals Antibodies for KCNJ8
- Invitrogen Antibodies for KCNJ8 (AFLGC-KCNJ8)
-
Custom Antibody ServicesProSci Antibodies for KCNJ8
Protein products for research
-
OriGene Purified Proteins for KCNJ8
- Search Origene for MassSpec and Protein Over-expression Lysates for KCNJ8
- Origene Custom Protein Services for KCNJ8
- antibodies-online: Show 4 available KCNJ8 Proteins ranked by validation data
- Compare Top KCNJ8 Proteins
-
Quality Products:
Assay products for research
No data available for DME Specific Peptides for KCNJ8 Gene
Domains & Families for KCNJ8 Gene
Gene Families for KCNJ8 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
- Transporters
- Voltage-gated ion channels
Protein Domains for KCNJ8 Gene
- InterPro:
- Blocks:
-
- Inward rectifier K+ channel superfamily signature
- Kir6.1 inward rectifier K+ channel signature
- ProtoNet:
Suggested Antigen Peptide Sequences for KCNJ8 Gene
- GenScript: Design optimal peptide antigens:
-
- uKATP-1 (IRK8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q15842UniProtKB/Swiss-Prot:
KCNJ8_HUMAN :- Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily.
- Family:
-
- Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily.
Function for KCNJ8 Gene
Molecular function for KCNJ8 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. Can be blocked by external barium (By similarity).
- GENATLAS Biochemistry:
- potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 8,involved in the regulation of membrane potential,preferentially expressed in the heart,component with SER2 of an ATP dependent potassium channel
Phenotypes From GWAS Catalog for KCNJ8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005242 | inward rectifier potassium channel activity | IEA,IBA | 21873635 |
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 32296183 |
| GO:0005524 | ATP binding | ISS | -- |
| GO:0015272 | ATP-activated inward rectifier potassium channel activity | IEA,NAS | 28842488 |
Phenotypes for KCNJ8 Gene
- MGI mutant phenotypes for KCNJ8:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for KCNJ8:
-
- no effect
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Synthetic lethal with vaccinia virus (VACV) infection
- Increased homologous recombination repair frequency
- Small cells
Animal Models for KCNJ8 Gene
- MGI Knock Outs for KCNJ8:
-
- Kcnj8 Kcnj8<tm1Sse>
Animal Models for research
-
Taconic Biosciences Mouse Models for KCNJ8
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KCNJ8 - Starting at $85 >
- * KCNJ8 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KCNJ8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ8
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ8
miRNA for KCNJ8 Gene
- miRTarBase miRNAs that target KCNJ8
-
- hsa-miR-556-3p (MIRT536535)
- hsa-miR-512-3p (MIRT536536)
- hsa-miR-5003-3p (MIRT536537)
- hsa-miR-93-5p (MIRT536538)
- hsa-miR-526b-3p (MIRT536539)
- hsa-miR-519d-3p (MIRT536540)
- hsa-miR-20b-5p (MIRT536541)
- hsa-miR-20a-5p (MIRT536542)
- hsa-miR-17-5p (MIRT536543)
- hsa-miR-106b-5p (MIRT536544)
- hsa-miR-106a-5p (MIRT536545)
- hsa-miR-302a-3p (MIRT536546)
- hsa-miR-302b-3p (MIRT536547)
- hsa-miR-520e (MIRT536548)
- hsa-miR-520d-3p (MIRT536549)
- hsa-miR-520b (MIRT536550)
- hsa-miR-302e (MIRT536551)
- hsa-miR-520c-3p (MIRT536552)
- hsa-miR-520a-3p (MIRT536553)
- hsa-miR-373-3p (MIRT536554)
- hsa-miR-372-3p (MIRT536555)
- hsa-miR-302d-3p (MIRT536556)
- hsa-miR-302c-3p (MIRT536557)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNJ8
- Browse OriGene Inhibitory RNA Products For KCNJ8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ8
Clone products for research
- Applied Biological Materials (abm): Clones for KCNJ8 - Starting at $45 >
- * KCNJ8 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KCNJ8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNJ8
Cell Lines for research
- ESI BIO PureStem ES-209, Meso-prx/latp Progenitor for KCNJ8
-
Horizon Cell Lines for KCNJ8
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNJ8 Gene
Localization for KCNJ8 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KCNJ8 Gene
- Membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 3 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0008076 | voltage-gated potassium channel complex | TAS | 7890693 |
| GO:0008282 | inward rectifying potassium channel | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNJ8 Gene
Pathways & Interactions for KCNJ8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Inwardly rectifying K+ channels | ||
| 2 | cGMP-PKG signaling pathway | ||
| 3 | Antiarrhythmic Pathway, Pharmacodynamics | ||
| 4 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Dopamine-DARPP32 Feedback onto cAMP Pathway
-
|
|
| 5 | Transmission across Chemical Synapses |
.62
|
|
Pathways by source for KCNJ8 Gene
1 BioSystems pathway for KCNJ8 Gene
4 Reactome pathways for KCNJ8 Gene
1 PharmGKB pathway for KCNJ8 Gene
1 KEGG pathway for KCNJ8 Gene
1 GeneGo (Thomson Reuters) pathway for KCNJ8 Gene
- CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
1 Qiagen pathway for KCNJ8 Gene
- Dopamine-DARPP32 Feedback onto cAMP Pathway
Interacting Proteins for KCNJ8 Gene
Selected Interacting proteins:
Q15842-KCNJ8_HUMAN
ENSP00000240662
for KCNJ8 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for KCNJ8
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001822 | kidney development | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | IEA,TAS | 7890693 |
| GO:0007507 | heart development | IEA | -- |
| GO:0032496 | response to lipopolysaccharide | IEA | -- |
Drugs & Compounds for KCNJ8 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Glyburide | Approved | Pharma | Inhibitor, Target, blocker | Kir6 (KATP) channel blocker | 126 | |
| Thiamylal | Approved, Vet_approved | Pharma | Target, inhibitor, antagonist | 0 | ||
| Minoxidil | Approved, Investigational | Pharma | Activator | Kir6 channel (KATP) opener | 50 | |
| Gliquidone | Approved, Investigational | Pharma | Target, inhibitor | 5 | ||
| Levosimendan | Approved, Investigational | Pharma | Target, inducer | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(5) Tocris Compounds for KCNJ8 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 KCNJ8 Gene
mRNA/cDNA for KCNJ8 Gene
- 1 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000240662 2274 nts (view in UCSC)
- ENST00000537950 507 nts (view in UCSC)
- ENST00000657855 2154 nts (view in UCSC)
- ENST00000665145 2336 nts (view in UCSC)
- ENST00000667884 2265 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KCNJ8 - Starting at $85 >
- * KCNJ8 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KCNJ8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ8
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ8
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNJ8
- Browse OriGene Inhibitory RNA Products For KCNJ8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ8
Clone products for research
- Applied Biological Materials (abm): Clones for KCNJ8 - Starting at $45 >
- * KCNJ8 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KCNJ8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNJ8
Relevant External Links for KCNJ8 Gene
- GeneLoc Exon Structure for
- KCNJ8
Expression for KCNJ8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Pericytes Splanchnic Mesoderm
-
Brain (Nervous System)
- Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Endothelial Cells Blood Brain Barrier
- Intermediate Mesoderm (Gastrulation Derivatives)
- Kidney (Urinary System)
- Eye (Sensory Organs)
- Liver (Hepatobiliary System)
- Lung (Respiratory System)
mRNA differential expression in normal tissues according to GTEx for KCNJ8 Gene
This gene is overexpressed in Heart - Left Ventricle (x6.0).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNJ8
SOURCE GeneReport for Unigene cluster for KCNJ8 Gene:
Hs.102308mRNA Expression by UniProt/SwissProt for KCNJ8 Gene:
Q15842-KCNJ8_HUMAN
Tissue specificity:
Predominantly detected in fetal and adult heart.
Evidence on tissue expression from TISSUES for KCNJ8 Gene
- Nervous system(4.5)
- Lung(4.3)
- Heart(3.4)
- Muscle(3)
- Liver(2.6)
- Pancreas(2.6)
- Kidney(2.4)
- Skin(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ8 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- lymphatic
- nervous
- reproductive
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- scalp
- skull
Thorax:
- aorta
- chest wall
- clavicle
- heart
- heart valve
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- lymph node
- lymph vessel
- red blood cell
- skin
- spinal column
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for KCNJ8
-
OriGene qPCR primer pairs and template standards for KCNJ8
Gene Expression Assays for research
No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KCNJ8 Gene
Orthologs for KCNJ8 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KCNJ8 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | KCNJ8 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KCNJ8 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KCNJ8 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Kcnj8 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kcnj8 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ8 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KCNJ8 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | KCNJ8 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | kcnj8 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001284 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Irk2 31 32 |
|
ManyToMany | |
| Irk3 32 |
|
|
|||
| Ir 31 |
|
ManyToMany |
- Species where no ortholog for KCNJ8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for KCNJ8 Gene
- ENSEMBL:
- Gene Tree for KCNJ8 (if available)
- TreeFam:
- Gene Tree for KCNJ8 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KCNJ8: view image
Paralogs for KCNJ8 Gene
Paralogs for KCNJ8 Gene
(16) SIMAP similar genes for KCNJ8 Gene using alignment to 2 proteins:
- IRK8_HUMAN
- F5GY12_HUMAN
Variants for KCNJ8 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNJ8 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 953104 | Uncertain Significance: Brugada syndrome | 21,765,853(-) |
T/C NM_004982.4(KCNJ8):c.1145A>G (p.Lys382Arg) |
MISSENSE | |
| rs1057521051 | Likely Benign: not specified | 21,766,533(-) |
G/A NM_004982.4(KCNJ8):c.465C>T (p.Ala155=) |
SYNONYMOUS | |
| rs1057522254 | Likely Benign: not specified | 21,773,563(-) |
G/A NM_004982.4(KCNJ8):c.54C>T (p.Ala18=) |
SYNONYMOUS | |
| rs112604741 | Benign: Brugada syndrome | 21,773,506(-) |
G/A NM_004982.4(KCNJ8):c.111C>T (p.Ile37=) |
SYNONYMOUS | |
| rs114704386 | Benign: not specified | 21,773,656(-) |
C/T NM_004982.4(KCNJ8):c.-40G>A |
FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.61;
45.19% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KCNJ8 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ8 Gene
Disorders for KCNJ8 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cantu syndrome |
|
|
| sudden infant death syndrome |
|
|
| brugada syndrome |
|
|
| hypertrichosis |
|
|
| coronary artery vasospasm |
|
|
Search KCNJ8 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KCNJ8_HUMAN- Note=Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG). The J point denotes the junction of the QRS complex and the ST segment on the ECG, marking the end of depolarization and the beginning of repolarization. An abnormal J wave is a deflection with a dome or hump morphology immediately following the QRS complex of the surface ECG. Examples of J-wave disorders are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases of idiopathic ventricular fibrillation (VF) with an early repolarization pattern in the inferior, inferolateral or global leads, as well as arrhythmias associated with hypothermia. {ECO:0000269 PubMed:20558321}.
- Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. {ECO:0000269 PubMed:21836131}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]: A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability. {ECO:0000269 PubMed:24176758, ECO:0000269 PubMed:24700710, ECO:0000269 PubMed:28842488}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
Additional Disease Information for KCNJ8
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
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- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for KCNJ8 Gene
Publications for KCNJ8 Gene
- cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8). (PMID: 8595887) Inagaki N … Seino S (Genomics 1995) 2 3 4 23
- Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. (PMID: 20558321) Medeiros-Domingo A … Ackerman MJ (Heart rhythm 2010) 3 4 41
- Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KCNJ8 and ABCC9. (PMID: 19952277) Ellis JA … Harrap SB (Physiological genomics 2010) 3 23 41
- Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. (PMID: 28842488) Cooper PE … Nichols CG (The Journal of biological chemistry 2017) 3 4
- Cantú syndrome resulting from activating mutation in the KCNJ8 gene. (PMID: 24700710) Cooper PE … Nichols CG (Human mutation 2014) 3 4
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Products for KCNJ8 Gene
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Sources for KCNJ8 Gene
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